Anal fissures are frequent, simple to diagnose, and often overlooked. A fissure is a longitudinal tear/wound/ulceration between the dentate line and the anal verge, typically located in the midline, associated with high anal sphincter tone. Risk factors: constipation, chronic diarrhea (idiopathic, IBD, post–gastric bypass), but fissure may also occur with normal bowel movements.
- • Acute fissure is defined as new onset, no signs of chronicity, typically related to identifiable acute episode of constipation or diarrhea.
- • Chronic fissure is defined as either > 3 months of symptoms or morphologic signs of chronicity (elevated/indurated wound edges, exposed sphincter muscle, sentinel skin tag, hypertrophic anal papilla).
Complications are rare: development of a perirectal fistula/abscess, chronic pain (even if fissure healed), ie, anismus.
Pathophysiology: acute or chronic stress/trauma to the anal canal (constipation, diarrhea) results in superficial tear; acute fissure will heal in 40–60% with appropriate improved stool management, or may turn into chronic anal fissure and result in a vicious circle: increasing sphincter tone, hypertonicity of internal anal sphincter muscle (resting tone) → fissure hiding between anal canal folding such that it cannot clean out → pain → increased sphincter spasm → etc.
Treatment of fissure aims at normalizing stool regularity and decreasing sphincter tone.
Exact prevalence and incidence are unknown (referral bias); in a specialist clinic, 3–5% of patients have a fissure as presenting symptom. More common in young and middle-aged adult patients; most frequent cause of rectal bleeding in children.
Patients often present with “painful hemorrhoids” as they feel the sentinel skin tag and notice the pain during and after bowel movements.
Pain: typically post defecation, varying degrees, ranging from mild itching to discomfort to massive excruciating pain periods. But an estimated 10% of patients do not complain of pain, or they just have pruritus or mild discomfort.
Duration of pain: typically during and post bowel movements, occasionally several hours thereafter, or permanent/constant pain.
Bleeding: acute fissure—sometimes significant bright red bleeding; chronic fissure—more often just traces of blood on toilet paper. Severe hemorrhage or anemia unlikely related to fissure.
Lump: “irritated” external hemorrhoids (sentinel skin tag), but absence of dynamic protrusion during bowel movement.
Pain: thrombosed external hemorrhoid, abscess, levator ani spasm, anismus.
HIV-associated ulcer: HIV infection+; ulceration: often in the same location and/or eccentric; sphincter tone typically not increased, or even decreased.
Crohn disease: anal symptoms may be the only manifestation or be associated with other signs/locations of active Crohn disease.
STDs: syphilis, herpes.
Perirectal fistula/abscess: particularly horseshoe fistula characteristically originates from posterior midline.
Tuberculosis: clinical suspicion, atypical presentation, associated pulmonary symptoms, positive PPD test.
Malignancy-associated lesion: cancer, melanoma, leukemia, lymphoma, plasmocytoma.
History: onset/pattern of symptoms, reversible prolapse or persistent “lump,” bowel habits, preexisting incontinence?
Clinical examination:
- • External inspection (skin tags, thrombosed external hemorrhoid, erythema/induration)? Lateral traction to the buttocks → exposure of posterior and anterior midline: often sufficient to diagnose the fissure (Figure 4–1). If fissure confirmed and significant pain reported, digital exam or instrumentation at the first presentation is not indicated!
- • External palpation: tight sphincter tone, hypertonic internal sphincter muscle with well-palpable intersphincteric groove.
Full/partial colonic evaluation as per general screening guidelines (if history and findings consistent: may be deferred for 3–4 weeks until acute symptoms controlled).
Anoscopy/proctoscopy: rule out tumor, hemorrhoids, proctitis, etc; if fissure is confirmed, these exams are only indicated if there are inconsistencies of complaints and findings!
Atypical (eccentric) fissures: cultures, biopsy.
Acute vs chronic anal fissure.
Improving stool regularity (increased supplemental fibers, increased fluid intake, stool softener, temporary mild laxative).
Sitz baths: to help patient relax, to wash off area.
Chemical sphincterotomy:
- • Topical 0.2% nitroglycerin ointment (fingertip amount applied to anal verge twice daily): 40–60% chance of healing fissure within 4–8 weeks; side effects: headaches (particularly in the beginning, may respond to acetaminophen), tachycardia. Contraindicated with concomitant sildenafil (Viagra): risk of malignant arrhythmias. If no improvement/healing in 4–8 weeks, or significant side effects → Botox.
- • Topical 2% diltiazem or 0.2% nifedipine ointment: applied twice or three times per day to anal verge; same cure rate as NTG, less headache, but local irritation may occur.
- • Injection of Botox into internal anal sphincter muscle: local disinfection and injection of 10–20 units of botulinum toxin A (suspended in 1 mL 0.9% NaCl) directly into internal anal sphincter muscle on each side (total amount: 20–40 units): estimated 80–85% chance of curing the fissure within 6–12 weeks; may repeat one time.
- • Severe acute symptoms: surgery by far providing the fastest relief.
- • Failure of nonoperative management (including pharmacologic sphincterotomy).
- • Lateral internal sphincterotomy (gold standard): 95% cure, 5(–15)% incontinence to stool or gas (often recovering within 1 year).
- • Lateral internal sphincterotomy with excision of fissure and sentinel skin tag: indicated if fissure is very deep and/or hiding underneath a large redundant sentinel skin tag.
- • Fissurectomy alone in combination with injection of Botox, potentially with external skin flap: in patients in whom weakening of the sphincter should be avoided (preexisting incontinence, chronic diarrhea, status post gastric bypass, IBD with potential need for future IPAA).
- • Obsolete procedure: manual anal dilation; uncontrolled dilation results not only in stretching of the internal sphincter muscle but also of the external sphincter muscle → high risk of fecal incontinence. Possible renaissance of concept with use of controlled dilatation?
Comment: fissurectomy and sphincterotomy in the area of the ulcer/fissure → risk of keyhole deformity, generally better to perform sphincterotomy through separate lateral incision.
Combined efforts should result in 95–100% of healing. Benchmark: < 10% problems with fecal control, rapid ability to return to workforce.
Recheck patient after 4–6 weeks of initiated treatment. Order appropriate tests (eg, cultures/biopsies) if no response or atypical presentation. Once resolved, no specific follow-up needed.
Skin tags represent focal redundancy of the perianal skin. They may be solitary or form excessive changes of the anal landscape with deep troughs, hence causing a potential problem for local hygiene. Uncomplicated skin tags may develop spontaneously or result from known episodes of thrombosed external hemorrhoids. Sentinel skin tags result from a persistent chronic problem (eg, chronic anal fissure). Most commonly, anal skin tags have no disease character and, if a problem, are more a cosmetic/emotional one.
Most commonly asymptomatic. Occasionally negative interference with local hygiene.
Occasionally itching/irritation or “painful hemorrhoid” → high index of suspicion that chronic fissure is hiding underneath.
Sentinel skin tags (with underlying chronic anal fissure).
External hemorrhoid (visible vascular component with continuum to internal hemorrhoids).
Condylomata.
Tumor (malignant, benign).
History: patient to define the actual problem: constant vs dynamic presence, need for reduction, associated symptoms (bleeding, pain, itching etc), daily bowel habits, constipation? Previous colonic screening?
Clinical examination: anal configuration (location and number of skin tags)? Underlying pathology (fissure, fistula, hemorrhoids, rectal prolapse)? Sphincter tone?
Anoscopy/proctoscopy: tumor, hemorrhoids, proctitis, etc.
Full/partial colonic evaluation: not because of the tag as such but as indicated per general screening guidelines.
No treatment needed for uncomplicated skin tag.
Treatment of underlying fissure in sentinel skin tag.
- • Patient desire to have skin tag removed (no medical necessity).
- • Patient desire to improve local hygiene (medically justifiable for extensive tags).
- • Sentinel skin tag in treatment-refractory anal fissure.
- • Simple excision (office vs OR setting).
- • Fissure: sphincterotomy alone vs sphincterotomy with fissurectomy and excision of skin tag.
In patients bothered aesthetically by the presence of a skin tag: low success rate of talking them out of a medically unnecessary surgical excision.
“Hemorrhoids” remain the most common colorectal complaint; however, a majority of patients associate any type of anorectal symptoms with “hemorrhoids” even though they do not necessarily have a hemorrhoid problem. “Hemorrhoidal cushions” are a component of normal anal anatomy and contribute to physiologic continence mechanism. Anatomic primary locations: right anterior, right posterior, left lateral.
Hemorrhoidal disease: pathologic engorgement of submucosal vascular plexus, often asymptomatic, increasingly resulting in bleeding (superficial erosions), progressive prolapse, less commonly, pain. Contributing factors: constipation with straining, diarrhea, pregnancy, familial clustering, age.
Important distinction between internal/mixed hemorrhoids and external hemorrhoids (Figure 4–2A).
Appropriate hemorrhoid treatment depends on (1) a correct clinical diagnosis that rules out alternative differential diagnoses, (2) the patient’s type and severity of symptoms, and (3) the grade, extent, and location of the hemorrhoid at the time of presentation.
Special circumstances: pregnancy, HIV infection, IBD, liver disease.
(Note: liver cirrhosis is not associated with increased incidence of hemorrhoids but may result in rectal varices!)
Prevalence: 3–6%; peak age: between 45 and 65 years, unusual before adolescence; approximately one-third of patients will seek medical treatment.
Internal hemorrhoids: bleeding and dynamic prolapse associated with bowel movement. Other symptoms generally unspecific: pain/discomfort (only when partially thrombosed or incarcerated [grade IV, Figure 4–2B]), itching (from moisture).
External hemorrhoids: most commonly no symptoms; pain (only if thrombosed); difficulty with hygiene (if very redundant); psychological aversion; bleeding only if spontaneous rupture of acute thrombosis.
Rectal prolapse (concentric pattern).
Skin tags.
Anal fissure with sentinel skin tag (“painful hemorrhoid”).
Condylomata.
Tumor (malignant, benign).
Hypertrophic anal papilla.
Abscess/fistula.
Proctitis (IBD, infectious, radiation etc).
Rectal varices.
Dieulafoy ulcer of the rectum.
Enlarged hemorrhoidal plexus, focal areas of thrombosis. Internal hemorrhoids: proximal to dentate line, covered with columnar/transitional epithelium. External hemorrhoids: distal to dentate line, covered with squamous-cell anoderm.
History: description (presence/absence and extent of prolapse, need for reduction), pattern of occurrence, associated symptoms (bleeding, pain, etc), daily bowel habits, constipation, preexisting incontinence?
Clinical examination: anal configuration (tags, etc)? Visible fissure or local skin pathology? Extent of prolapse (differentiation from rectal prolapse). Axial location with regard to dentate line (internal, external, mixed). Radial location and number of affected hemorrhoidal piles (1–3), presence/absence of complications (thrombosis, necrosis, ulceration, active bleeding). Sphincter tone?
Anoscopy/proctoscopy: tumor, hemorrhoids, proctitis, etc.
Except in emergency: full/partial colonic evaluation as per general screening guidelines and prior to any planned intervention.
If other diagnoses more likely.
- • Internal hemorrhoid grading: descriptive clinical parameters for hemorrhoids (Table 4–1) should include patient-reported extent of prolapse (grade I–IV), objective axial location with regard to the dentate line (internal, external, mixed), objective radial location and extent in 1–3 of the hemorrhoidal piles, presence or absence of complications such as thrombosis, necrosis/gangrene, ulceration, or active bleeding.
- • External hemorrhoid grading available only for thrombosis: ie, acute (< 72 hours post onset), subacute (> 72 hours, still inflammatory changes).
| Grade of Hemorrhoids | Description (Covered with Mucosa) | Symptoms | Treatment Options |
|---|---|---|---|
| Internal grade I | Bulging into anal canal | Painless bleeding | Diet |
| Local and general drugs | |||
| Rubber band ligation | |||
| Infrared coagulation | |||
| Sclerotherapy | |||
| Internal grade II | Protrusion out of anal canal with bowel movements; reduces spontaneously | Painless bleeding, swelling | Rubber band ligation |
| Infrared coagulation | |||
| Sclerotherapy | |||
| (PPH/stapled hemorrhoidectomy) | |||
| Internal grade III | Protrusion; requires manual reduction | Above + possible strangulation | Rubber band ligation PPH/stapled hemorrhoidectomy |
| Excisional hemorrhoidectomy | |||
| Internal grade IV | Constant protrusion; irreducible, or instantaneous reprolapse | Above + high risk of strangulation with pain, necrosis, sepsis | Excisional hemorrhoidectomy (PPH/stapled hemorrhoidectomy) |
| Mixed hemorrhoids | Internal and external components | According to the predominant component | Treatment according to predominant component: |
| • Excisional hemorrhoidectomy | |||
| • PPH/stapled hemorrhoidectomy | |||
| External hemorrhoids | Skin-covered “protrusions” | Discomfort, itching | Symptomatic conservative treatment |
| Severe pain if thrombosed | Incision and enucleation of thrombus | ||
| Excisional hemorrhoidectomy |
Indicated for:
- • All grades of internal hemorrhoids, potentially sufficient for grades I/II, occasionally even grade III (and IV).
- • Thrombosed external hemorrhoid > 72 hours post onset (individualized exceptions from this rule).
- • Coagulopathy.
- • HIV infection with manifest AIDS.
- • Underlying IBD.
- • Pregnancy (relative contraindication for surgical intervention).
→ Dietary/lifestyle modification: fiber-rich diet, sufficient fluid intake, stool softener, decreased time spent on the toilet, Sitz baths for acute symptoms.
→ Topical treatments: short-term (!) use of glycerin suppositories with/without topical steroids or local anesthetics, numerous over-the-counter preparations with unproven effect.
- • General: lack of contraindications; in presence of risk factors (coagulopathy, portal hypertension, pregnancy, etc) → perioperative optimization, possible need for inpatient monitoring.
- • Internal hemorrhoids: symptomatic, failure of conservative management, complications (bleeding, anemia, incarceration).
- • External hemorrhoid: Acute thrombosis (< 72 hours post onset).
- • Office interventions: hemorrhoid banding, sclerosing, infrared coagulation of internal hemorrhoids; excision/enucleation of thrombosed external hemorrhoid.
- • Surgical procedures: excisional hemorrhoidectomy (Ferguson, Milligan-Morgan, Whitehead), stapled hemorrhoidectomy (PPH), doppler-guided hemorrhoid artery ligation.
Obsolete hemorrhoid procedures: cryoablation → foul-smelling discharge, uncontrolled tissue injury, incontinence.
Conservative treatment and office management: 70% chance of success (depending on grade of symptoms). Interventional/operative treatment: 90–95% chance of success. Recurrence rates with PPH unknown.
Complications of surgical management: delayed wound healing, pain, postoperative bleeding, urinary retention, fecal impaction, infection/perineal sepsis, incontinence to stool/gas, stricture formation. Whitehead hemorrhoidectomy: important conventional tool for circumferential hemorrhoids, but risk of ectropion if done improperly.
Recheck patient after 2–4 weeks of initiated or performed treatment. Once hemorrhoidal problem has resolved, no specific follow-up is needed.
Perirectal abscess is a frequent, commonly not life-threatening but very annoying problem that is associated with pain, risk of recurrence, and fear. Among various causes of an abscess in this area, the most common ones are cryptoglandular in origin.
Pathogenesis of cryptoglandular abscess: 8–12 anal glands entering anal canal in anal crypts at the dentate line → plugging of duct? → retention/entry of bacteria → amplification and expansion along anatomic perirectal spaces → liquefaction (abscess formation). No specific risk factors identified.
Etiologies:
- • Local origin: cryptoglandular, Crohn disease, Bartholin cyst, sebaceous glands, anastomotic leak (LAR, IPAA), status post anorectal surgery, locally advanced cancer, tuberculosis, chronic form of LGV, trauma (impalement, foreign body, etc).
- • Supralevator origin (very rare): diverticulitis, Crohn disease, malignancy.
Severity of perirectal abscess: varying size of localized abscess, horseshoe abscess (involving postanal space and both ischioanal fossae; caveat: not to be mistaken for supralevator abscess), varying degrees of perifocal phlegmon, Fournier gangrene.
Worsening perianal/perirectal or deep rectal pain: constant, not related to bowel activity; increasing local pressure, increasing perianal swelling (may be hidden in ischioanal abscess); positional aggravation (sitting, walking).
Associated symptoms: possible fever, urinary retention; rarely sepsis (maximum: Fournier gangrene, Figure 4–3A).
Symptoms may be masked in immunocompromised patients (neutropenia, leukemia) → pain only, but no abscess formation.
Pain: anal fissure, thrombosed external hemorrhoid, incarcerated prolapsed internal hemorrhoids, levator ani spasm, anismus, STDs (syphilis, herpes, etc).
Fever: other sources of infection—pelvic, extrapelvic.
Fistula system: hidradenitis suppurativa, Crohn disease, anorectal tuberculosis, actinomycosis, chronic LGV.
Location within the perirectal spaces:
- • Perianal/subcutaneous: 40–65%.
- • Intersphincteric/submucosal: 15–25%.
- • Ischioanal and deep postanal: 20–35%.
- • High intramuscular: 5–10%.
- • Supralevator: 5%.
History: gradual onset, absence of prolapse as primary symptom, bowel habits, preexisting incontinence, symptoms suggestive of Crohn disease (abdominal pain, diarrhea, bleeding), previous abdominal/pelvic/anorectal surgeries?
Clinical examination:
- • External inspection: possible erythema/induration, possible fistula opening, absence of thrombosed external hemorrhoid or fissure.
- • Digital rectal exam (only if diagnosis not already obvious): induration/tenderness of perirectal spaces, including ischioanal fossae and/or deep postanal space? Caveat: even large abscesses may never show fluctuance!
Further tests typically are not indicated in emergency situations (unless patient is under anesthesia):
- • Anoscopy/proctoscopy: rule out tumor, proctitis, potential assessment for primary opening (eg, fissure), potential intraluminal bulging of abscess (high intersphincteric/submucosal location).
- • Not indicated (unless for special reasons): blood work, imaging studies eg, CT (Figure 4–3B) or ERUS, cultures (unless atypical circumstances/presentation).
Not indicated.
Antibiotics only for special circumstances: immunosuppressed patient, severe phlegmonous component, valvular heart disease.
Any perirectal abscess or suspected abscess (caveat: don’t look or wait for “fluctuance”).
- • Office: incision and drainage of perirectal abscess in local anesthesia, no search for fistula.
- • OR: Larger abscess, inability to tolerate local procedure:
- – Incision(s) and possible counter-incisions with placement of drain(s), possible mushroom catheter.
- – Simultaneous evaluation and treatment for fistula (caveat: creation of iatrogenic fistula tract in altered tissue).
- – Incision(s) and possible counter-incisions with placement of drain(s), possible mushroom catheter.
- • Fournier gangrene: aggressive debridement, possible second look operations, possible ostomy.
Adequate drainage results in rapid improvement; ~50% probability of persistent fistula tract after first time I&D.
Recheck patient after 1–2 weeks (resolution of acute inflammation?) and after 4–6 weeks (persistence of fistula?).
Planning of elective fistula surgery.
Full/partial colonic evaluation as per general screening guidelines.
Perirectal fistula is closely associated with perirectal abscesses. The fistula tract, which connects the primary opening(s) with one or more secondary opening(s), becomes fully manifest upon spontaneous or surgical opening of a perirectal abscess. A significant number of patients do not recall episode of an abscess. In an estimated 50% of drained abscesses (first episode), the inflammatory process may obliterate the fistula tract. Blind-ending sinuses may complicate the picture and become the source of recurrences.
Course of fistula may vary significantly, but some repetitive pattern (Goodsall rule):
- • Fistula opening anterior to transverse line and < 3 cm from anal verge → straight radial course to dentate line.
- • Fistula opening posterior to transverse line → curved course to the posterior midline.
- • Fistula opening anterior to transverse line and > 3 cm from anal verge → curved course to posterior midline.
Population-based epidemiologic data are limited; one Scandinavian study suggests prevalence of 6–12% per 100,000 people.
Cyclic symptoms: abscess with increasing pain → rupture/surgery with drainage of pus → cooling off with closure of skin (“healing”) → beginning of smoldering infection → abscess…
Persistent symptoms: continued drainage, moisture, itching.
Cryptoglandular origin: overwhelming majority of fistulae.
Noncryptoglandular origin: Crohn disease, anastomotic leak (LAR, IPAA), status post anorectal surgery/trauma, locally advanced neoplasm, tuberculosis, actinomycosis, chronic form of LGV, hidradenitis suppurativa.
Congenital fistulae.
Location defined by anatomic perirectal spaces:
- • Subcutaneous/-mucosal fistula.
- • Intersphincteric fistula (45–60% of all fistulae): through distal internal sphincter → intersphincteric space → external opening.
- • Transsphincteric fistula (25–30%): through both internal and external sphincters.
- • Suprasphincteric fistula (< 3%): originates in intersphincteric plane and tracks up and around entire external sphincter complex.
- • Extrasphincteric fistula (< 3%): rectal wall above dentate line → around both sphincters: most commonly seen in trauma, Crohn disease, or PID.
- • Ischioanal (horseshoe) fistula (20–35%): primary defect most commonly in posterior midline → deep postanal space and extends to bilateral ischioanal fossae with possible multiple secondary openings.
History: characterization of symptoms, bowel habits, preexisting incontinence, symptoms suggestive of Crohn disease (abdominal pain, diarrhea, bleeding), previous abdominal/pelvic/anorectal surgeries?
Clinical examination:
- • External inspection: identification of possible fistula opening, possibly limited probing, but it is not relevant to preoperatively identify exact course of fistula.
- • Anoscopy/proctoscopy: rule out tumor, hemorrhoids, proctitis, etc.
Full/partial colonic evaluation as per general screening guidelines.
Imaging studies: only for recurrent or more complex appearing fistula—conventional fistulogram, MRI fistulogram, endorectal ultrasound with H2O2 injection.
- • Park classification → combinations possible:
- – Intersphincteric fistula.
- – Transsphincteric fistula.
- – Suprasphincteric fistula.
- – Extrasphincteric fistula.
- – Intersphincteric fistula.
- • Simple fistula vs complex fistula (eg, horseshoe fistula, branching fistula, multiple secondary openings etc; Figure 4–4).
Any symptomatic fistula.
General: intraoperative evaluation: insertion of silver probe, injection of peroxide/dye, etc.
Selection of appropriate method based on location and extent of sphincter involvement:
- • Fistulotomy, fistulectomy: if < 10–20% of sphincter involvement.
- • Seton management: draining vs cutting seton—complex or recurrent fistulae.
- • Endorectal advancement flap with/without fistulectomy.
- • Plugging of fistula tract (fibrin glue, collagen plug): long, narrow tract, no active suppurations.
- • Rerouting of fistula tract.
- • External skin advancement flap.
Recurrence of fistula: > 10–35% for all methods → no perfect solution.
Risk of incontinence: 0–15% (stool), 0–25% (flatus); even higher in some series!
Recheck patient every 2–4 weeks for outpatient management:
- • Open wound: check in regular intervals until healed by secondary intention.
- • Draining setons: unless they are intended for long-term use (eg Crohn disease), removal can be considered after 3–4 weeks if inflammation and drainage are decreased.
- • Cutting seton: tightening every 3–4 weeks until migrated through the involved muscle.
- • Collagen plug: check every 3–4 weeks until fistula opening is dried off.
Pilonidal disease (“hair nest”) is most common in young adults, essentially nonexistent in those > 45–50 years. Males:females = 3:1. Overweight common but not exclusive. Condition is not life-threatening but is annoying and causes significant work/school absences. Range of presentations: asymptomatic pits in the sacrococcygeal region that cause a local infection with acute abscess, recurring abscesses, draining sinus or fistula.
Pathogenesis: hair penetration/development beneath the skin results in foreign body–type infection. Two theories:
- 1. Congenital: embryologic skin fusion error with resultant entrapment of hair follicles in the sacrococcygeal region.
- 2. Acquired: external origin (maceration, microtrauma, ingrowth) introduces hair follicles into the subdermal area.
Prevalence of asymptomatic pilonidal disease unknown. Risk of recurrent abscess: ~30–50% after resolved first episode, 80–90% after two episodes.
Pain (inability to sit down), erythema, swelling, purulent drainage from pits or secondary openings, chronic/intermittent discomfort, chronic/intermittent drainage, secondary skin irritation.
Complications: squamous cell carcinoma (after 20–30 years), sacral osteomyelitis, necrotizing fasciitis, toxic shock syndrome, and meningitis.
Hidradenitis suppurativa: not uncommonly overlap between and coexistence of both.
Perirectal fistula: cryptoglandular origin.
Presacral tumor.
Meningomyelocele.
Lipoma.
Sebaceous cyst.
Acne inversa.
Cystic structure of varying size, containing hairs, debris. Fistulous tracts extending to the skin (midline pits). Varying degrees of acute and chronic inflammatory reaction (neutrophils, lymphocytes). Abscess rupture and/or incision resulting in off-midline openings.
Clinical examination: midline pits, off-midline openings, induration, erythema, tenderness.
Digital rectal exam: rule out presacral tumor.
If presentation not classical → x-ray or CT/MRI to rule out spinal fusion malformation.
- • Asymptomatic/quiescent pilonidal disease.
- • Acute pilonidal abscess.
- • Recurrent acute pilonidal disease.
- • Chronic pilonidal sinus/fistula.
Asymptomatic or quiescent pilonidal disease: no treatment needed, prophylaxis impossible.
Mild acute flare-up: suppression with antibiotics (avoid antibiotic abuse).
- • Acute pilonidal abscess.
- • History of recurrent acute pilonidal disease (two or more episodes).
- • Chronic pilonidal sinus/fistula.
- • Cancer (→ combined-modality treatment).
Acute abscess → incision and drainage (in local anesthesia if possible).
Treatment parameters = simplicity, associated pain, hospitalization/down time, recurrence rates, wound care, return to normal activity; no surgical approach meets all goals!
Unroofing sinus tracts including pits and secondary openings → conversion to open wound for healing by secondary intention. Advantage: easiness, no limitations to physical activity. Disadvantage: prolonged wound care, requires patient cooperation (meticulous wound care, hair shaving). Time to healing 4–6 weeks; recurrence rates 5–20%.
Excision of pits, removal of hairs, brushing out the tracts.
En-bloc excision of cyst, pits, secondary openings, inflammation with creation of shallow funnel-shaped wound, possible marsupialization of skin edges. Advantage: easiness of surgery, easiness of wound care (showers, scrubbing, no packing), no limitations to physical activity, lowest recurrence rates. Disadvantage: prolonged open wound, requires patient cooperation (scrubbing of wound, hair shaving). Time to healing 1–5 months; recurrence rates 1–6%.
- • Midline approach: symmetrical excision, primary closure, possibly with deep retention sutures and external compression roll. Advantage: faster overall recovery (if uncomplicated healing). Disadvantage: limitations of physical activity (bed rest, minimal walking) for 2 weeks, 30% risk of wound separation → worse outcome of secondarily opened wound compared to primarily left open wound. Time to healing 2 weeks; recurrence rates 15–25%.
- • Lateral approach: lateral incision, unroofing of sinus and fistula tracts, excision of pits with lateral closure. Advantage: faster overall recovery (if uncomplicated healing). Disadvantage: limitations of physical activity (minimal walking) for 2 weeks, risk of separation. Time to healing 2–3 weeks; recurrence rates 10%.
Complete excision with skin grafting (primarily or after wound conditioning). Advantage: accelerated wound closure. Disadvantage: prolonged down time, risk of graft failure, discomfort/wound care at harvest site. Time to healing 2–4 weeks; recurrence rates 5–10%.
Complete removal of all sinus tracts and infected cutaneous and subcutaneous tissue with tension-free closure using healthy tissue. Advantage: reduced midline tension, faster overall recovery (if uncomplicated healing). Disadvantage: limitations of physical activity (bed rest, minimal walking) for 2 weeks, risk of separation, worse outcome of secondarily opened wound compared with primarily left open wound. Time to healing 2 weeks; recurrence rates: not confirmed.
Factors associated with postsurgical recurrence:
- • Primarily open approach: unfavorable wound configuration (deep pockets) with inadequate drainage, hair in the wound, neglected wound care (hair, granulation tissue).
- • Closed approach: undebrided devitalized tissue, suture line tension, activity → shearing forces.
Hidradenitis suppurativa is an inflammatory process originating from the apocrine sweat glands with a high chance of chronicity. Combination of acute infection with multifocal suppuration and abscess formation, as well as chronic smoldering, and fistulizing process, may result in progressive disease extension and significant fibroplastic reaction with occasionally grotesque scarring and tissue deformation. Most common locations are buttocks, groins, perineum, and axillae, but the process may extend to the intergluteal cleft (overlap with pilonidal disease) or the perirectal area (overlap with perirectal fistulae).
Pathogenesis: obstruction of apocrine sweat glands (eg, keratin) → retention of secretions → infection within the dermis and subdermis → formation of granulation tissue, tracts, and sinuses. Mixed pathogens, often skin-type origin.
Risk factors include: male gender (2:1), African-American ethnicity, obesity, smoking, hormones, familial history. Age: typically in young adults < 40–45 years. Not proven to be associated with hidradenitis: shaving, depilatory creams, deodorant usage.
Condition is not life-threatening but is annoying and causes significant work/school absences. If untreated, there is a long-term risk of malignant transformation into squamous cell cancer (after 20–30 years).
Prevalence unknown. Most common in young adults (after puberty to age 45 years, comparable to pilonidal disease). Risk of recurrent abscess: ~30–50% after “successful” treatment.
Pain (inability to sit down), erythema, swelling, purulent drainage from multiple pits or secondary openings, chronic/intermittent discomfort, chronic/intermittent drainage, secondary skin irritation. Relatively rarely: associated lymphadenopathy and systemic signs.
Complications: chronic scarring with deformities, squamous cell carcinoma (after 20–30 years), necrotizing fasciitis, toxic shock syndrome.
Pilonidal disease.
Cutaneous infections: furuncles, carbuncles, erysipelas, tuberculosis, lymphogranuloma venereum, actinomycosis.
Perirectal fistula/abscess of cryptoglandular origin.
Crohn disease.
Folliculitis.
Sebaceous cyst.
Acne inversa.
Squamous cell carcinoma.
Fistulous tracts extending to the skin with varying degrees of acute and chronic inflammatory reaction (neutrophils, lymphocytes) and focal abscess formation. Chronicity with fibrous reaction.
Clinical examination (to include all possible locations): multiple openings, diffuse induration, tenderness, areas of erythema. Palpatory pressure → multifocal release of purulent secretions.
Digital rectal exam and anoscopy if location close to anus.
Cultures: Inconsistent, 50% are culture-negative; most common pathogens: Staphylococcus epidermidis, Streptococcus milleri, Ecoli, mixed anaerobes, Chlamydia trachomatis.
If presentation is not classical: imaging studies, biopsies.
Systemic antibiotics (eg, tetracyclines).
Topical antibiotics (eg, clindamycin).
General measures: weight loss, loose-fitting clothes, antiseptic body care.
Uncertain treatments: isotretinoin (retinoic acid derivative), hormone treatment, leuprolide (gonadotropin-releasing hormone agonist), immunosuppressants (cyclosporine, etc).
- • Symptomatic disease: (sub-)acute suppurations and abscesses.
- • Large disease extent: any but very limited disease unlikely to respond to medical treatment.
- • Refractoriness to conservative treatment.
- • Cancer → appropriate oncologic management with wide excision and combined-modality treatment.
- • Unroofing of multiple tracts (lay-open technique, possible marsupialization) → open wound care.
- • Wide local excision → open wound care (reliable).
- • Wide local excision with skin grafting.
- • Wide local excision with flap reconstruction: particularly in anatomically critical areas.
Recurrences or persistent disease very common: perianal < perineal < inguinoperineal. Proactive re-debridements to be anticipated and planned.
Fecal incontinence is the common final pathway of multiple independent etiologies. It is defined as the involuntary loss of rectal contents (feces, gas) through the anal canal and the inability to postpone an evacuation until socially convenient. Consequences of incontinence are significant: (1) secondary medical morbidity (eg, skin maceration, urinary tract infections, decubitus ulcers), (2) substantial direct and indirect financial expenses (to patients, employer, insurance), (3) impact on quality of life (self-esteem, embarrassment, shame, depression, need to organize life around easy access to bathroom, avoidance of enjoyable activities, etc).
Problem: lack of standardization of definitions, lack of correlation between subjective and objective parameters, lack of knowledge about anorectal and continence physiology.
Scoring systems: do not include physiologic components to accurately reflect clinical severity, mostly based on subjective patient-reported assessment of severity and frequency. Easiest and most commonly used score: Cleveland Clinic Florida (Wexner) fecal incontinence score: frequency of incontinence to gas, liquid, solid, of need to wear pad, and of lifestyle changes.
Very common but difficult to assess (taboo). Estimated prevalence: only known for subsets of population → wide variability depending on method of assessment and target population. International population-based studies: 0.4–18%. US telephone survey: 2.2% (30% > 65 years old, female/male 63%/37%), clinic patients: 5.6% (general outpatients) and 15.9% (urogynecology patients). Disproportionate 45–50% of affected individuals have severe physical and mental disabilities.
Primary symptom: worsening lack of control for different components: solid stool, liquid/semi-formed stool, gas. Descriptive grades: staining < soilage < seepage < accidents.
Daytime/nighttime variation. Reduced sensation for arriving stool, reduced urge-suppressing capacity, shortened maximal deferability.
Associated symptoms: urinary incontinence, vaginal bulging (rectocele, cystocele), prolapse (hemorrhoidal, mucosal, full-thickness rectal), altered bowel habits.
Secondary symptoms: pruritus, perianal skin irritation.
Typically less doubts about the diagnosis of “fecal incontinence” than its underlying etiology.
Rectovaginal fistula.
Colovaginal fistula.
Perirectal fistula.
- • Insufficient outlet resistance (pressure, pressure profile): defect or dysfunction of sphincter muscles (IAS, EAS, puborectalis muscle), anal canal disconfiguration.
- • Excessive endoluminal pressure or propulsive force: visceral hyperactivity (diarrhea, IBD, IBS), overflow incontinence (incomplete evacuation, fecal impaction).
- • Decreased consistency (diarrhea): dietary, drug-induced, irritants (bile acids), infectious, IBD, IBS.
- • Increased gas formation: IBS, dietary, bacterial overgrowth.
- • Decreased rectal compliance: proctocolitis, rectal scar/anastomosis, radiation-induced.
- • Increased rectal compliance: rectocele, megarectum.
- • Central neurologic deficit: focal (stroke, tumor, trauma, multiple sclerosis); diffuse (dementia, multiple sclerosis, infection, drug-induced)
- • Peripheral neuropathy: localized (parity-induced pudendal neuropathy, pelvic radiation), diffuse (diabetes mellitus, drug-induced).
- • Functional dysfunction: visceral hypersensitivity (IBS).
History: quantitation of complaint and its impact, time of onset, number and type of vaginal deliveries, history of anorectal or spine surgeries, length of interval, underlying diseases (diabetes, stroke, etc), current medications, stool quality, passage of stool/gas through vagina, incomplete evacuation? Prolapse? History of previous colonoscopies? Past treatment failures, current management?
Clinical examination:
- • Visual inspection: stool smearing, skin irritation, perineal descent, patulous anus, gapping to lateral traction, preserved anocutaneous sensation and reflex, radial folds, perineal body, keyhole deformity, prolapse or ectropion, etc?
- • Digital rectal exam: sphincter integrity, sphincter tone (rest/squeeze), compensatory auxiliary muscle contraction (gluteus muscle), length of anal canal, rectocele, palpable mass?
- • Anoscopy/proctoscopy: rule out other pathologies: anorectal cancer, hemorrhoids, proctitis, etc.
Full or at least partial colonic evaluation as per general screening guidelines prior to further investigation or intervention.
Administration of quality of life instruments: eg, FIQL.
Anorectal ultrasound: method of choice to assess sphincter defect.
Anophysiology studies (highly recommended where available): manometry including sensation/compliance, pudendal nerve terminal latency.
Assessment for suspected associated pelvic floor dysfunction:
- • Defecating proctogram.
- • Dynamic MRI.
- • Urodynamics.
- • GYN evaluation.
- • Structural vs functional incontinence.
- • Based on etiology of incontinence: see above.
- • Based on severity: mild, moderate, severe incontinence.
- • Based on onset: acquired vs congenital incontinence.
Dietary changes:
- • Avoidance of foods that cause diarrhea or urgency.
- • Supplementary fiber.
Bowel habit training: timing after meals.
Supportive measures:
- • Barrier creams (zinc oxide based).
- • Rectal washouts, scheduled enemas.
Medications:
- • Antidiarrheal medications (loperamide, diphenoxylate, opiates).
- • Bile-acid binders (cholestyramine).
- • Amitriptyline (antidepressant).
- • Caveats: Patients with overflow incontinence (eg, fecal impaction) may rather need routine enemas or laxatives.
- • Hormonal replacement therapy? → role not defined.
Physical therapy and biofeedback training: simple, cheap, no adverse physical effects:
- • Improve contraction of the external anal sphincter in response to rectal distention.
- • Coordination training.
- • Sensory training.
- • Strength training.
- • Treatment-refractory fecal incontinence.
- • Incontinence with obvious and correctable deformity: cloaca-like deformity, keyhole deformity.
- • Sphincter repair (sphincteroplasty) where structural defect identifiable → ultrasound = most important diagnostic tool.
- • Correction of visible deformities (anus, rectum).
- • Sacral nerve stimulation: restimulation of dysfunctional, but anatomically intact anal sphincter muscle.
Narrowing of anal canal: → increase of outlet resistance, but no functional element:
- • Thiersch, related procedures: anal encirclement (silver wire, silastic band): even if foreign body has to be removed due to infection ~50% improvement (scar-related).
- • Secca procedure: radiofrequency ablation to create controlled scar in anal canal.
- • Nondynamic graciloplasty: “bio-Thiersch,” high risk of complications, lack of functional component.
- • Implantation/injection (eg, ultrasound-guided) of implantable microballoons, carbon-coated beads, autologous fat, silicone, collagen.
Dynamic sphincter replacement:
- • Implantation of artificial bowel sphincter: functional/dynamic solution, risk of infection/erosion.
- • Dynamic graciloplasty: electrical stimulation via an implantable pulse generator → conversion of the fast-twitch, fatigable gracilis muscle to a slow-twitch, fatigue-resistant muscle.
→ Reduce fecal load:
- • Appendicostomy or continent colostomy (if appendix already gone!).
- • Timed washout of the whole colon.
- • Problem: leakage of residual colonic fluid during several hours following the irrigation.
If other therapies have failed or if comorbidities preclude more aggressive therapy → colostomy: does not restore continence, but allows control of bowel evacuation:
- • Fecal diversion = excellent alternative (if done well).
- • Permits resumption of a normal personal and social life.
- • Caveat: A poorly constructed or located ostomy may even be worse → emphasis to create a well-constructed stoma at an appropriate site.
Sphincteroplasty: 60–88% of patients: excellent or good short-term outcome, 15–20%: no change or worsening. Long-term success deteriorating → < 50% continence after 5 years.
Predictors of failure: multilevel fragmentation of anal sphincter muscle, atrophic sphincter muscle during sphincteroplasty, extensive traumatic damage, extensive scaring, neurologic etiologies with intact sphincter muscle, combination of sphincter defect with underlying colorectal disease (IBD, IBS, etc), potential impact of pudendal neuropathy.
Failure after surgical treatment: → biofeedback training → reevaluation and repeat repair after > 6–12 months? → alternative vs repeat strategy?
Chronic itching in the perianal area which often triggers an irresistible urge to scratch. May be secondary to a true local anorectal pathology or a perianal manifestation of systemic disease (eg, dermatoses, leukemia, etc), or may be idiopathic pruritus ani. Most common underlying problem is fecal incontinence, chronic moisture in the area (prolapsing hemorrhoids, rectal prolapse, fistulae, obesity with deep anal cleft, urinary incontinence, vaginal discharge, etc). Idiopathic pruritus is not associated with detectable underlying disease, but most commonly the result of dietary and hygiene habits.
Very frequent complaint; however, only a minority of individuals will seek medical attention. Male:female ratio = 4:1.
Itching, constant or sporadic, cycles (eg, at nighttime). Look for associated symptoms: moisture, drainage, prolapse, pain/discomfort (particularly after bowel movements).
Idiopathic pruritus ani: no detectable underlying pathology.
Secondary pruritus ani: result of underlying primary pathology:
- • Local diseases: fistula, fissure, incontinence, condylomata and other STDs, prolapse, neoplasm, pinworm infection, etc.
- • Dermatoses: psoriasis, lichen sclerosus, allergic/contact dermatitis (often secondary to use of topical medications), radiation injury, etc.
- • Systemic diseases: diabetes, lymphoma/leukemia, renal failure, jaundice.
History: Onset, pattern of occurrence, associated symptoms, daily habits?
Clinical examination: anal configuration? Local skin pathology visible (Figure 4–5) or not visible? Symmetric vs asymmetric, secondary pathology (eg, scratch excoriations, skin atrophy from chronic steroid use). Signs of chronicity (lichenification)? Evidence of skin pathology in other body areas? Sphincter function?
Anoscopy/proctoscopy: Tumor, hemorrhoids, proctitis, etc.
Full colonic evaluation only necessary if indicated as per general screening guidelines.
Cultures: fungal, viral (herpes), chlamydia, HPV.
Biopsy: Bowen disease, Paget disease, dermatoses, etc.
Stool cultures, O&P, perianal tape test (pinworms).
Indicated for idiopathic pruritus and for symptomatic improvement in secondary pruritus:
- • Elimination of current topical creams/ointments.
- • Elimination of soaps, overzealous hygiene, recycled toilet paper, alcohol wipes, deodorants, etc.
- • Application of barrier ointment (zinc oxide based, etc), consider KMnO7 sitz baths (2 crystals per bath tub such that water is minimally stained, not purple).
- • Corticosteroids creams: only indicated for very short period (< 1 week).
- • Weight reduction.
- • Elimination of foods: caffeine (including chocolate, tea, etc), spices, alcohol, tomatoes, citrus fruits, nuts.
Only if needed for elimination of underlying pathology (see respective topics). Never indicated for idiopathic pruritus.
Depending on the primary pathology (see respective chapters).
Dependent on success of treating underlying pathology. Idiopathic pruritus commonly responds to change of daily habits.
Recheck patient after 4–6 weeks of initiated treatment. Order appropriate tests (eg, cultures/biopsies) if no response. Once resolved, no follow-up needed.
Solitary rectal ulcer syndrome is a distal rectal pathology resulting from recurrent mechanical stress, most commonly rectal prolapse, recurrent digital manipulations, or recurrent autoinstrumentations, etc. The name is misleading: SRUS is not required to be solitary and not even required to include an ulcer; other, hyperplastic/polypoid changes may be present.
Rare, but prevalence is underestimated. Affects all ages depending on underlying pathology/behavior.
SRUS symptoms: bleeding, mucous discharge, pain, tenesmus, incomplete evacuation, urgency.
Associated symptoms from underlying pathology: eg, recurrent rectal prolapse, incontinence, outlet obstruction (eg, paradoxical puborectalis contraction).
IBD: ulcerative colitis, Crohn colitis.
Radiation proctitis.
STDs: eg, lymphogranuloma venereum, herpes simplex, HIV-associated ulcers, primary syphilis, chancroid, etc.
Endometriosis.
Adenomatous changes.
Characteristic myofibrosis of lamina propria with paucicellular stroma (ie, striking absence of inflammatory cells, particularly neutrophils). In addition, thickened mucosa, distorted crypt architecture.
History: symptoms? Evidence of external prolapse (length)? Underlying bowel function (constipation/diarrhea, need for manual support)? Change in bowel habits? Incontinence (fecal/urinary)? Sexual practices? Previous surgeries (eg, prolapse, hysterectomy, etc)? Previous colonic evaluations (flex sigmoidoscopy, colonoscopy, BE)?
Clinical examination: triggerable rectal prolapse? Rectal mass?
Rigid sigmoidoscopy: lead point? Visible mucosal changes (ulcerations, thickening?)
Full/partial colonic evaluation prior to elective surgery.
Defecating proctogram.
Dynamic MRI.
ERUS: thickening of the mucosa and rectal wall.
SRUS without prolapse and manageable symptoms: counseling, dietary changes, fibers, laxatives, abstain from manual or instrument manipulation, possible biofeedback training.
- • Any SRUS with identifiable prolapse.
- • SRUS without identifiable prolapse, but significant treatment-refractory symptoms.
- • Prolapse: abdominal or perineal prolapse repair.
- • No prolapse: local transanal excision; in severe cases need for low anterior resection with coloanal anastomosis.
Natural course of SRUS not completely documented; some changes are reversible upon correction of cause.
Retained or stuck foreign bodies pose a special challenge for defining when surgical intervention is needed. The rate of successful intestinal passage and of spontaneous rectal expulsion is unknown; the problem hence likely is more frequent than reported. Patients only seek medical advice for manifest or pending intestinal obstruction or perforation, pain/discomfort, or if, despite prolonged efforts, they are unable to retrieve the object from the rectum.
Rectal foreign bodies: autoeroticism with lost control because anus/rectum function as a trap that make retrieval difficult: (1) sphincter muscle results in high-pressure closure behind inserted object and causes further proximal dislocation of the object; (2) presacral and puborectalis curvatures result in a change of direction; (3) valves of Houston form additional obstacles. Complications: obstruction, perforation, sphincter injury.
Oral ingestion of foreign bodies (subentity: hair bezoars): young children, underlying psychopathology (Figure 4–6), or intentional body packing. Common GI obstacles: gastroesophageal junction, pylorus, ligament of Treitz, terminal ileum, rectosigmoid, anal canal; in addition, anastomotic sites (recurrent ingestions/explorations), adhesive kinks.
Complications: obstruction, perforation, abscess formation, internal injury, bleeding, corrosion, rupture of body packs with acute intoxication/death.
Oral ingestion: incidence unknown, spontaneous passage rate unknown.
Rectal insertion: incidence unknown, spontaneous expulsion rate unknown.
Oral ingestion of foreign object: passage dependent on form, size → possible obstruction, possible perforation, possible bleeding, possible complete passage.
Intracorporeal rupture of body packs → acute toxicity and cardiopulmonary collapse.
Rectal insertion of foreign object: pain, discomfort, bleeding, abdominal pain (ominous sign).
Intoxication → other routes of administration, other causes of loss of consciousness.
Obstruction → other causes of SBO/LBO.
History: often not revealing (altered story, denial, psychosis); social and psychological background?
Clinical examination:
- • Vital signs: evidence of intoxication?
- • Abdominal exam: distention, peritoneal signs?
Initial abdominal and pelvic x-rays: free air, obstructive pattern, identification and characterization of objects (primary and unreported).
Chest-x-ray in two projections: esophageal foreign body, free subdiaphragmatic air, mediastinal air.
Serial abdominal x-rays: change of foreign body position?
Caution with digital rectal exam: potential for sharp objects?
Clinical examination: careful anal (and vaginal) evaluation: risk of laceration, risk to examiner. Gentle digital rectal exam: avoid pushing object more proximally!
None.
Orally ingested foreign bodies: EGD with attempted endoscopic removal (through protector sheath), or watchful waiting (serial clinical and radiological exam).
Rectal foreign bodies: attempt at bedside extraction (70–75% successful).
- • Irretrievable foreign body.
- • Foreign body with complication.
- • Attempt at extraction under anesthesia.
- • Laparotomy with either bimanual expulsion (milking) or enterotomy and retrieval of foreign body.
Nonsurgical retrieval or passage of foreign bodies in 75–80%; need for surgical intervention in 20–25%. Unspecified risk of recurrent episodes.
Coined in the pre-HIV era, the term “gay bowel syndrome” comprised a rather unselective potpourri of unusual anorectal and GI symptoms experienced by homosexual males: abdominal pain, cramps, bloating, flatulence, nausea, vomiting, diarrhea, enteric infections (bacterial, viral, fungal, parasitic), trauma.
With better understanding of the underlying causes, this term is outdated: the derogatory terminology should be abandoned and more specific entities and terms recognized and used:
- • Condylomata acuminata, mollusca contagiosa.
- • Hemorrhoids.
- • Proctitis (lymphogranuloma venereum, gonorrhea, syphilis, herpes simplex, etc).
- • Perirectal abscess/fistula.
- • Anorectal ulcer/fissure.
- • Acute enteritides (salmonella, shigellosis, Campylobacter, Clostridium difficile, E coli, viral pathogens, Staphylococcus aureus, etc).
- • Chronic diarrhea (Cryptosporidium, Microsporidium, Cyclospora, Giardia, Isospora, Entamoeba histolytica, Mycobacterium avium complex [MAC], CMV, HIV enteropathy).
- • Benign polyps.
- • Lymphoma.
- • Viral hepatitis.
- • Anorectal trauma and foreign bodies.
- • Tuberculosis, atypical mycobacteriosis (MAC).
- • Associated symptoms (urethritis, etc).
Anorectal disorders are frequent in HIV-positive men who have sex with men (MSM) and may represent the original reason to seek medical attention. Improved treatment options with availability of HAART (highly active antiretroviral therapy) have dramatically changed the previously universally fatal HIV infection as such, and opportunistic infections and HIV-associated tumors (lymphoma, Kaposi sarcoma) have decreased since 1994. Yet, despite HAART, the incidence of anorectal problems has not changed, and anal dysplasia and cancer are on the rise. The original risk constellation (unprotected anorectal intercourse) appears to be primarily responsible for a majority of the problems.
Most common clinical presentations (frequently multiple synchronous problems) are:
- • One-third anal condylomata.
- • One-third HIV-associated ulcers.
- • One-third other problems: abscess and fistula-in-ano, hemorrhoids, STDs, trauma/foreign body, anal dysplasia/neoplasia, molluscum contagiosum, tuberculosis (typical, atypical).
HIV-associated ulcer: painful flat and often eccentric lesion at the anal verge, caused by combination of mechanical trauma, multibacterial and viral infection.
Surgical treatment in HIV-positive patients, which historically (1986) had unacceptably high morbidity/mortality, has become safer: healing time is prolonged and poor outcomes are still possible, but overall symptom relief and eventual healing rate approximates that of HIV-negative patients.
Depending on pathology → worsening and increasingly constant perianal and/or deep rectal pain, possible fever, possible urinary retention, bleeding/discharge, growth:
- • Condylomata: lumps or bumps, itching, bleeding.
- • HIV-associated ulcer: pain, purulent discharge, bleeding.
- • STDs: perirectal pain (HSV), mucopurulent discharge and urgency/tenesmus (lymphogranuloma venereum), diarrhea, etc.
- • Abscess: swelling, pain, inflammatory mass, fevers.
- • Anal intraepithelial neoplasia (AIN) → cancer: range between asymptomatic to pain, mass/lesion.
- • Hemorrhoids: bleeding, prolapse.
Other HIV-associated symptoms: wasting, fat redistribution syndrome (fat accumulation, lipodystrophy), lymphadenopathy, seborrheic dermatitis, dementia, etc.
- • Non-HIV related causes: chronic anal fissure, thrombosed external hemorrhoid, abscess, levator ani spasm, anismus.
- • HIV-related: HIV-associated ulcer, HSV infection, abscess, STDs, trauma.
- • Chronic anal fissure (unlikely in MSM): higher location (anal canal), tight sphincter tone, tags very common.
- • Idiopathic HIV-associated ulcer: often also in posterior midline or eccentric/multicentric, low location (anal verge), lax sphincter tone, tags uncommon, possible mucosal bridging.
- • Specific infections: HSV, CMV, chancroid, tuberculosis, Cryptococcus, actinomycosis.
- • Acute trauma (intercourse, foreign bodies).
- • Neoplastic: anal cancer, lymphoma.
- • IBD (ulcerative colitis/Crohn disease).
- • Condylomata.
- • Cancer, lymphoma, Kaposi sarcoma.
- • Actinomycosis, chancroid, etc.
HIV-associated ulcer: epithelial ulceration, unspecific acute and chronic infiltrates.
Other pathologies: dependent on underlying disease.
History: Onset/pattern of symptoms, lumps/bumps, underlying bowel function and habits, preexisting incontinence? HIV test done? Time since HIV infection? Partner diseases? Opportunistic infections and tumors? Weight loss? Current HAART medications?
If not already done: HIV test.
Immune status: CD4 count, viral load.
Clinical examination:
- • External inspection (skin tags, thrombosed external hemorrhoid, erythema/induration)? Lateral traction to the buttocks → visible ulcerations.
- • If significant pain reported, digital exam or instrumentation at the first presentation not indicated!
- • External palpation: normal/reduced sphincter tone?
Rigid/flexible sigmoidoscopy: proctitis, mass, etc.
Further colonic evaluation as per general screening guidelines (if history and findings consistent → may be deferred for 3–4 weeks until acute symptoms improved).
Cultures (viral, bacterial including for gonococcus, fungal, acid-fast bacilli).
Biopsy of anything unusual.
PPD test.
Possible chest x-ray.
- • HIV-/immunosuppression-driven diseases (causal).
- • HIV-associated diseases (linked without direct cause–effect).
- • HIV-independent diseases (coincidental).
General: assessment of immune status (eg, CD4 < 50) → initiation/adjustment of HAART.
HIV-associated ulcer: empirical medication with metronidazole 3 × 500 mg PO and acyclovir 3 × 800 mg PO for 14 days results in 85% resolution; repeat if improved but not resolved.
STDs: antibiotic/antiviral treatment, supportive measures.
Pre-neoplasia: anal canal surveillance.
Hemorrhoids: banding, but contraindicated if evidence for immunosuppression.
- • HIV-associated ulcer: failure of empirical treatment.
- • Condylomata.
- • Lump/mass.
- • Persistent cancer after chemoradiation.
- • Abscess/fistula.
- • Treatment-refractory hemorrhoids.
- • Excision of ulcers, potentially with advancement flap → open wound care.
- • Hemorrhoids: excisional hemorrhoidectomy. Caveat: stapled hemorrhoidectomy contraindicated in MSM (risk of injury from residual staples).
- • Other pathologies: removal of warts, biopsy or excision of lumps, drainage of abscess, etc; persistent cancer after chemoradiation → oncologic resection (see Anal Cancer later in the chapter).
HIV-associated ulcer: 85% improvement with conservative treatment; after surgical excision → improvement of pain and discomfort in 90% of patients despite creation of even larger wounds and varying times of wound healing.
CD4 < 50 → poor wound healing.
Monitoring of HAART.
Immediate follow-up every 2 weeks → control and verification of local treatment success.
Long-term follow-up → health management, HAART, at least annual Pap smear, etc.
STDs are caused by transmission of pathogens during sexual activity. Affected locations: genital, anorectal, oral. Anorectal STDs are an important health issue in patients engaging in anoreceptive intercourse. Risk behavior of either index patient or partner(s) result in frequently repeated acquisitions of STDs. Multiple simultaneous STDs are common and facilitate acquisition of others (eg, HIV).
- • Discharge syndromes: gonorrhea, chlamydia (LGV), HSV.
- • Anogenital ulcerations: herpes simplex, HIV-associated ulcers, primary syphilis, chancroid (Haemophilus ducreyi), LGV, granuloma inguinale (donovanosis: Klebsiella/Calymmatobacterium granulomatis).
- • Pain:
- – Yes: HSV, LGV, chancroid.
- – No: syphilis (chancre), granuloma inguinale.
- – Yes: HSV, LGV, chancroid.
- • Proctitis/proctocolitis: gonorrhea, chlamydia (LGV), syphilis, HSV.
- • Proliferative syndromes: HPV, HHV-8 (Kaposi sarcoma), lymphoma, syphilis (condylomata lata, gumma).
- • Skin rashes: secondary syphilis, disseminated gonorrhea, pediculosis pubis, scabies.
Direct anogenital pathogen infestation: HPV, Neisseria gonorrhoeae, Chlamydia trachomatis (including LGV), Treponema pallidum (syphilis), HSV.
Indirect pathogen infestation (eg, oral or oral-anal route): Giardia lamblia, Campylobacter species, Shigella species, Entamoeba histolytica, C trachomatis, pediculosis pubis, scabies.
HIV-positive patients: CMV, Mycobacterium avium intracellulare complex (MAI/MAC), Microsporidium, Isospora, etc.
US incidence of STDs overall: up to 20 million new infections per year. Active STDs (eg, gonorrhea, syphilis, etc) increase the risk of HIV infection if exposed.
- • Proctitis: pruritus, anorectal pain, tenesmus, rectal bleeding, mucus discharge.
- • Proctocolitis: same as above; in addition: change in bowel habits (diarrhea), abdominal cramps.
- • Enteritis: diarrhea, abdominal cramping without signs of proctocolitis.
- • Proliferation: lump, mass, condylomata.
- • Gonorrhea: asymptomatic carrier (reservoir); PID; monoarthritis; skin rash; urethritis; proctitis with thick, cloudy, or bloody discharge; pain.
- • Syphilis (Lues):
- – Primary: primary complex (chancre)—small, indurated, clean-based, and painless ulcer; proctitis.
- – Secondary: diffuse, nonitching maculopapular skin rash, possible general symptoms (lymphadenopathy, fever, headache), condylomata lata.
- – Latent: status post infection, but no clinical evidence of disease.
- – Tertiary: no primary manifestation, neurologic symptoms, aortitis, gumma.
- – Primary: primary complex (chancre)—small, indurated, clean-based, and painless ulcer; proctitis.
- • Chancroid: deep, purulent, and painful genital ulcer with tender suppurative inguinal lymphadenopathy.
- • Herpes genitalis: multiple and grouped painful vesicular or shallow ulcerative lesions.
- • Chlamydia serovars D–K: proctitis, urethritis.
- • Chlamydia serovars L1–L3 (LGV): tender lymphadenopathy, proctocolitis with bloody/mucous discharge, pain/tenesmus, constipation, fever. Long-term sequelae: lymphedema, fistulae, and strictures.
- • Granuloma inguinale (donovanosis): progressive, very vascular and friable, painless ulceration without regional lymphadenopathy.
Other causes of ulceration, bleeding, pain.
Primary neoplasms: anal cancer, Paget disease, Bowen disease, AIN, rectal cancer, melanoma, Kaposi sarcoma, lymphoma.
Other forms of colitis: ulcerative colitis, Crohn disease, C difficile colitis, etc.
- • Gonorrhea: N gonorrhoeae, intracellular gram-negative diplococci → selective cultures (Thayer-Martin medium), PCR.
- • Syphilis: T pallidum (spirochetes) → darkfield/immunofluorescence microscopy, serology.
- • Chancroid: H ducreyi, gram-negative rod → special culture medium (difficult), PCR-diagnosis.
- • Herpes genitalis: HSV-1 and HSV-2 (herpes genitalis) → isolation in cell cultures, PCR-based diagnosis.
- • C trachomatis serovars D–K and L1, L2, L3 (LGV), intracellular pathogen → serology, culture, immunofluorescence test.
- • Granuloma inguinale (donovanosis): gram-negative K granulomatis (formerly C granulomatis) → culture difficult, diagnosis on biopsy: dark-staining Donovan bodies.
History: risk behavior, HIV status, specific symptoms.
Clinical examination: inspection → mass/lump, ulcers/blisters, fistulae? Digital exam/palpation of inguinal lymph nodes; anoscopy/sigmoidoscopy → HSV, gonorrhea, LGV, syphilis? Examination of oral cavity.
All patients with STDs → HIV testing (unless known positive).
Cultures:
- • Direct cultures: HSV, gonorrhea, chlamydia, H ducreyi, tuberculosis.
- • Stool cultures, including Giardia, cryptosporidiosis, microsporidiosis.
Other examinations:
- • Stool WBCs?
- • Gram-stained smear of anorectal secretions: gram-negative intracellular diplococci?
- • Darkfield light microscopy: T pallidum?
- • Serologic testing: HSV-2, syphilis, LGV, gonorrhea.
Anogenital ulcers: → syphilis serology + darkfield examination or direct immunofluorescence, HSV culture or antigen test, H ducreyi culture.
Reportable diseases: syphilis, gonorrhea, chlamydia, HIV, tuberculosis.
Chest x-ray or PPD: tuberculosis.
Colonoscopy.
Proctitis: ceftriaxone + doxycycline.
HSV: one of the following: acyclovir, famciclovir, valacyclovir.
Syphilis: penicillin G → caveat: Jarisch-Herxheimer in first 24 hours: acute febrile reaction, headache, myalgia; alternatives: doxycycline, tetracycline.
Chlamydia/LGV: doxycycline; alternative: erythromycin.
Gonorrhea: ceftriaxone (plus treatment for chlamydia); alternative: spectinomycin → caveat: drug-resistant gonorrhea.
CMV: ganciclovir.
Chancroid: one of the following: azithromycin, ceftriaxone, ciprofloxacin, erythromycin.
Granuloma inguinale: doxycycline; alternatives: azithromycin, ciprofloxacin, erythromycin, or trimethoprim-sulfamethoxazole.
Idiopathic HIV-associated ulcers: empirical treatment with acyclovir + metronidazole.
HPV: see respective chapters.
- • Uncertain diagnosis → biopsy and culture of tissue specimen (bacterial, viral, acid-fast bacilli).
- • Anogenital condylomata.
- • Treatment-refractory HIV-associated ulcer.
See Chapter 5.
Higher risk of treatment failure in HIV-positive patients, particularly with low CD4 counts.
Risk factors for recurrent infections: continued risk behavior (promiscuity, unprotected intercourse), untreated partner, uncircumcised individuals.
Assessment of infection clearance → follow-up should be based on specific etiology and severity of clinical symptoms. Difficulty in distinguishing reinfection from treatment failure.
Management of sex partners: evaluation and treatment.
Condylomata (“anogenital warts”) are hyperkeratotic and often cauliflower-like, solitary or multiple skin lesions that are caused by sexually transmitted infection of squamous epithelia with highly contagious HPV. Before activating proliferative growth mode, HPV may be dormant within the cells for weeks, months, even years: the exact time and “donor” of the infection can therefore not be determined with certainty.
More than 100 HPV serotypes have been identified: ~30 serotypes are sexually transmitted, serotypes 6/11 in > 90% of cases, but coexistence of different serotypes is possible. Currently, routine serotyping is clinically not relevant:
- • HPV serotypes with malignant potential: 16, 18, 33, 31, 35, 39, 45, 51, 52 → low- and high-grade squamous intraepithelial lesions (LSIL, HSIL) → invasive cancer.
- • HPV serotypes without malignant potential: 6, 11, 42, 43, 44 → genital warts, LSIL
Growth pattern ranging from (1) focal scattered diminutive warts, to (2) large and exophytic warts, (3) carpet-like, often confluent lesions, or (4) inversely growing Buschke-Lowenstein giant condylomata.
In the US: prevalence of 20 million people with genital HPV infections, annual incidence of 5.5 million people infected every year; 50–75% of sexually active general population have genital HPV infection at some time in their life, 15% with evidence of current infection. Majority of infections are subclinical, ie, not detectable by physical exam or cytology. Anogenital warts: in 1–2% of general population, in 3–25% of HIV-positive population; 13–30% of males with anal warts have penile warts; 70–85% of patients with external warts have also internal warts.
Often asymptomatic.
Presence of indolent palpable/visible grayish or flesh-colored skin lesions (papules, nodules, lumps, masses).
Itching: difficulty with hygiene. With increasing size → bleeding when traumatized.
Caveat: pain is not a symptom of anal warts → differential diagnoses: ulcer, fissure, tumor, abscess.
Molluscum contagiosum.
Fibroepitheliomata.
Hypertrophic anal papillae.
Seborrheic keratoses.
Sebaceous glands.
Condylomata lata (secondary syphilis).
Bowen disease.
Anal cancer or other tumors.
Paget disease.
Papillomatous hyperkeratotic acanthotic lesions. Maintained epithelial maturation toward the surface. Characteristic koilocytosis = perinuclear cytoplasmic vacuolization in conjunction with nuclear irregularity.
Low-grade dysplasia (AIN I) → high-grade dysplasia (AIN III): increasing epithelial disorganization, loss of maturation, increased cellularity to the surface. Podophyllin effect: changes similar to high-grade dysplasia.
History: onset, pattern, and sites of occurrence; associated symptoms? HIV status?
Clinical examination: localization and extent of lesions? Confluence of lesions (Figure 4–7)? Estimate of internal and external anoderm involvement. Examination of perineum, penis. GYN exam.
Anoscopy/proctoscopy/sigmoidoscopy: internal involvement, associated STD proctitis, etc.
Full colonic evaluation only necessary if indicated as per general screening guidelines.
Cultures: if suspicion of other STDs.
Biopsy: if diagnosis in doubt, all excised lesions.
HIV test (recommended).
GYN exam.
Partner examination/treatment.
In HIV-infected patients: optimization of immune status (HAART).
Topical treatments for relatively limited and accessible disease, commonly multiple sessions (daily/weekly) needed, recurrence rates > 25%:
- 1. Patient applied:
- a. Imiquimod 5%: topical ointment, unclear mode of action but multilevel enhancement of local immune response which promotes host suppression of HPV proliferation. Red butt: side effect, often associated with later treatment success. Success rate of 60–70% in HIV-negative, 10–20% in HIV-positive patients.
- b. Podophyllin: 0.5 solution topically twice daily for 8 hours (3–4 days/week), protection of healthy skin recommended; antiproliferative cytotoxic properties (cell cycle arrest in metaphase) → potential risk of carcinogenesis, unsuited for anal canal condylomata. Local side effects: irritation, blistering, ulceration; rare systemic toxicity reported: hepatotoxicity, oncogenicity. Caveat: podophyllin effect on pathology specimen.
- c. 5-FU: 60% eradication after 3–7 days but often associated with intolerable discomfort.
- a. Imiquimod 5%: topical ointment, unclear mode of action but multilevel enhancement of local immune response which promotes host suppression of HPV proliferation. Red butt: side effect, often associated with later treatment success. Success rate of 60–70% in HIV-negative, 10–20% in HIV-positive patients.
- 2. Physician applied:
- a. Podophyllin: 25% solution topically once per week (side effects: see above).
- b. Liquid nitrogen: freezing of warts every 1–2 weeks, cheap, discomfort.
- c. Trichloric acid (TCA): chemical burning of warts, once per week.
- d. Intralesional injection of interferon: multiple sessions needed.
- a. Podophyllin: 25% solution topically once per week (side effects: see above).
- 3. Unproven treatments: multiple other regimens.
- • Larger extent and/or number of external condylomata.
- • Internal condylomata.
- • Treatment refractoriness.
- • Excision of larger lesions at their base, possible combination with injection of interferon alpha.
- • Fulguration of smaller/flat lesions, possible combination with injection of interferon alpha.
- • Wide excision with flap reconstruction (not commonly indicated).
Risk of recurrence dependent on extent of disease, completeness of removal, HIV/immune status. HPV also present in adjacent noncondylomatous epithelium → 30–50% recurrence.
Patient education about safer sex practices (avoidance of reinfection, avoidance of associated STDs), management of sex partner recommended.
Role, indication, timing of HPV vaccination (Gardasil) unclear at this point.
Anal dysplasia (like anal cancer) is linked to HPV infection with subtypes HPV16 or HPV18. The concept of AIN in high-risk populations (HIV-positive MSM) is relatively young and still evolving: there is a confusing and nonstandardized overlap between different pathologies and newer vs established terminology:
- • AIN (anal intraepithelial neoplasia): neither visible nor palpable, located in anal canal.
- • LSIL vs HSIL (low-grade vs high-grade squamous intraepithelial lesion).
- • ASCUS (atypical squamous cells of uncertain significance).
- • Carcinoma in situ, intraepithelial carcinoma.
- • Bowen disease: visible erythematous plaque with an irregular but usually sharp demarcation, located in anal margin area.
AIN terminology and management “borrowed” from cervical cancer prevention/management (ie, CIN), but not entirely applicable:
- • Analogies between the two entities:
- – Both are considered STDs: associated with HPV, other HPV manifestations common (condylomata), eradication of HPV difficult (dormant viral genome), identification of precancerous lesions relatively easy.
- • Differences:
- – Cervix: common cancer with decreasing incidence (cervical cancer screening programs), precursor lesion treatable without mutilation, early cancers hidden (not in reach of finger), cancer-specific mortality relatively high (except for earliest stages).
- – Anus: rare cancer with increasing incidence (HIV, HAART), precursor lesion difficult to treat (morbidity, risk of mutilation and functional impairment), early cancer readily visible/palpable (in reach of finger), effective treatment available for established cancer, cancer-specific mortality relatively low.
- – Cervix: common cancer with decreasing incidence (cervical cancer screening programs), precursor lesion treatable without mutilation, early cancers hidden (not in reach of finger), cancer-specific mortality relatively high (except for earliest stages).
- • Problems: the concept of AIN monitoring relies on stepwise progression through different stages. Unfortunately, this concept is not (yet) corroborated by actual data: uncertain whether/when/how AIN can regress or progresses towards cancer or whether therapeutic intervention allows natural course to be changed. Cost-effectiveness of anal screening has not been analyzed.
Ranging from asymptomatic → mild symptoms (eg, pruritus) → visible/palpable lump/mass or skin changes → increasing pain, possible bleeding, etc.
Classification according to revised Bethesda system for cervical cytology:
- • Normal.
- • Atypical squamous cells of uncertain significance (ASCUS).
- • Low-grade squamous intraepithelial lesion (LSIL).
- • High-grade squamous intraepithelial lesion (HSIL).
Biopsy: nuclear polymorphism with hyperchromasia and mitotic figures; increasing replacement of the stratified squamous epithelium architecture with immature cells similar to basal cells, no signs of invasiveness, ie, no disruption of basement membrane.
History: risk stratification → HIV-positive, anal intercourse? Presence/absence of symptoms, lumps/bumps? Time since HIV infection? Current HAART medications? Recent podophyllin applications? Previous Pap smears?
Immune status: CD4 count, viral load.
Clinical examination: external inspection, digital palpation, and anoscopy → skin appearance, condylomata, lumps/bumps, induration?
Any visible/palpable pathology → biopsy.
No visible pathology but AIN on Pap → high-resolution anoscopy (3% acetic acid or Lugol iodine solution) → biopsy of dysplastic areas to characterize AIN.
- • ASCUS: atypical squamous cells of uncertain significance.
- • AIN I: mild dysplasia (LSIL).
- • AIN II: moderate dysplasia.
- • AIN III: severe dysplasia, intraepithelial carcinoma (HSIL).
- • Bowen disease: intraepithelial squamous cell carcinoma in visible anal margin lesion.
Expectant approach (watchful waiting) with recurrent clinical and pap monitoring.
Topical imiquimod.
Topical 5-FU (with/without topical imiquimod).
- • Any visible or palpable lesion/mass → at least biopsy, or excision if possible.
- • AIN III: operative treatment vs watchful waiting?
- • Anal mapping → multiple circumferential punch biopsies at defined concentric intervals.
- • Wide local excision, potentially with flap reconstruction.
Anal Pap screening: sensitivity 65–90% and specificity 30–60% for diagnosing AIN.
Surgical AIN eradication: extensive surgery with significant morbidity (painful recovery, wound care, stricture) → 80% recurrent AIN III within 12 months.
Expectant approach (watchful waiting) → 6–10% invasive cancer.
Topical medications (imiquimod, 5-FU) → > 60% chance of AIN resolution?
Clinical examination and Pap smears: high-grade lesions → every 3 months, low-grade lesions annually.
Bowen disease is an intraepithelial squamous cell carcinoma (caveat: Paget disease is an intraepithelial adenocarcinoma). Etiologically, it is frequently associated with chronic/recurrent exposure to arsenic or sunlight (→ location on trunk and extremities) or infection with HPV16 or HPV18 (→ location in genital/perianal region).
Distinction between AIN III and Bowen disease inadequately defined and lacking consensus → varying and inconsistent terminology and possible need to entirely eliminate terms in the future.
Suggested distinction of clinical entities (Table 4–2): in contrast to invisible AIN I–III (located in nonkeratinizing anal canal anoderm), Bowen disease is located inside or outside anal margin (distal to anal verge in keratinizing squamous epithelium) → presenting as macroscopically visible/palpable skin lesion in form of a scaly or thickened erythematous plaque with an irregular but usually sharp demarcation (Figure 4–8).
| AIN | Bowen Disease | Paget Disease | |
|---|---|---|---|
| Visible/palpable lesion | No | Yes | Yes |
| Pap smear | Yes | No | No |
| Histology | Squamous cell dysplasia | Intraepithelialsquamous cell carcinoma | Intraepithelial adenocarcinoma |
| Location | Anal canal | Anal margin genital area extragenital locations | Anal canal to anal margin |
| HPV-related | + | + (extra-anogenital: arsenic, sunlight) | – |
| Multifocal | 100% | 10–20% | ? |
| Malignant potential | 6–10% | 6–10% | 30–50% |
| Association with internal malignancies | – | – | 20–50% |
Bowen disease is not associated with internal GI malignancies (in contrast to Paget disease → 20–50% internal malignancy!).
Range: asymptomatic → mild symptoms (eg, pruritus) → enlarging skin changes → increasing irritation, possible bleeding, etc.
Idiopathic pruritus ani.
Perianal skin irritation.
Candidiasis.
Manifest anal cancer.
Bowenoid papulosis.
AIN I–III.
Paget disease.
Scaly or thickened erythematous skin alteration with irregular but usually sharp demarcation.
Epithelium with nuclear polymorphism with hyperchromasia and mitotic figures → replacement of the stratified squamous epithelium architecture with immature cells similar to basal cells up to the surface, no signs of invasiveness, ie, no disruption of basement membrane.
Expectant approach (watchful waiting).
Topical imiquimod.
Topical 5-FU (with/without topical imiquimod).
Topical photodynamic therapy.
Any visible or palpable lesion/mass: at least biopsy, excision if possible.
- • Anal mapping: multiple circumferential punch biopsies at defined concentric intervals.
- • Wide local excision with negative margins, potentially with flap reconstruction.
Surgical treatment: high risk of local recurrence. Associated morbidity: discomfort, wound dehiscence, anal stenosis, incontinence.
Expectant approach (watchful waiting): < 6–10% developing invasive cancer → watchful waiting and selective treatment justifiable.
Buschke-Lowenstein giant condylomata represent large and expansive verrucous growth with invasive squamous cell carcinoma (verrucous carcinoma): locally destructive growth pattern with high risk for local recurrence but low tendency to metastasize.
The condition (like other condylomata and anal cancer) is an STD (→ located on penis, anus, vulva) related to HPV infection, but other as of yet unknown factors result in this characteristic growth pattern. Aggravated progression is observed during pregnancy and in immunosuppressed patients.
Visible exophytic and verrucous mass.
Epidermal hyperplasia with hyper-/parakeratosis, koilocytosis, lack of horn pearls; invasion of dermis, but no vascular or lymphovascular invasion; inflammatory reaction.
HIV testing, pregnancy test. Generous and deep biopsy.
Otherwise as for anal cancer.
As for anal cancer.
Immunomodulation: antiretroviral therapy (HAART) in HIV-positive patients.
Topical imiquimod.
Injection of interferon or bleomycin?
Chemoradiation (Nigro protocol): Caveat: the verrucous carcinoma and Buschke-Lowenstein giant condylomata are the one exception to the otherwise primarily nonsurgical approach to anal cancer.
Large bulky tumor.
Depending on location:
- • Wide local excision if possible (anal margin).
- • Cautery ablation of tumor bulk (→ chemoradiation).
- • Rarely: abdominoperineal resection.
Anal cancer historically was relatively rare (1.5–2% of all GI tumors) and a disease affecting persons of middle to advanced age, predominantly women. The HIV epidemic and prolonged survival due to highly active antiretroviral therapy (HAART) have resulted in a dramatic increase in the incidence of anal cancer among HIV-positive patients, predominantly men who have sex with men (MSM) and at a younger age, along with an associated risk of cervical, vaginal, and vulvar cancer in women, and other STDs.
Anal cancer is considered an STD: transmission of HPV occurring through repetitive anal intercourse with serotype 16, but also 18, 33, (31, 35) represents the highest risk. Other risk factors: immunosuppression (HIV, drug-induced, etc), smoking, chronic trauma/wounds.
Numerous pathologic subtypes, wide spectrum of special manifestations, and precursor diseases: AIN I–III, Bowen disease, verrucous cancer, anal cancer in fistula, perianal cancer. Although cancer screening is expanding (anal Pap smears), its role is not precisely defined.
An overwhelming percentage of new anal cancers are misdiagnosed by noncolorectal specialists as a benign condition. Staging is based on tumor size, not on depth of penetration (see Appendix 2).
For treatment decisions, anatomic location is crucial:
- • Anal canal involved: primary location or secondary involvement from large perianal tumor.
- • Anal canal not involved: perianal (anal margin) cancer.
Treatment in the past: primary radical surgery with wide local excision (anal margin) or APR (anal canal). Modern strategy for anal canal has shifted to highly effective and sphincter-saving chemoradiation (Nigro protocol) as the first-line approach, with radical surgery reserved for patients with incomplete response (large tumors more likely) or recurrences. Nonetheless a substantial fraction of patients (> 25%) ultimately require colostomy for various reasons.
Classical form (before HIV): women in their 50s–60s, 0.7 new cases per 100,000 men overall, 25–37 new cases per 100,000 MSM.
New epidemic (since advent of HIV): younger HIV-positive males (MSM) → relative increased risk ratio compared with pre-HIV era: 84.1 in homosexual and 37.7 in nonhomosexual patients. Epidemic rise in annual incidence in US: from 3400 new cases in 1997 to 4700 new cases and 700 cancer-related deaths in 2007.
Bleeding (55–60%), anal pain and tenesmus (40–50%), visible or palpable mass (25–40%), change in bowel habits (eg, pencil-like stools, incontinence), constipation, diarrhea, mucous discharge, pruritus. Completely asymptomatic (20%).
Associated benign anorectal pathology in > 25% of patients: hemorrhoids, condylomata acuminata (> 50% in MSM), Bowen disease, fissure, fistula, leukoplakia, pruritus → symptoms frequently ignored or misallocated for > 3 months before diagnosis of cancer is established.
Perianal (anal margin) tumors: distal to transition of hairless anal canal to hair-containing perianal skin, but < 5 cm away from anal verge.
Skin cancer: > 5 cm away from anal verge.
Rectal cancer (→ adenocarcinoma): above dentate line.
Infiltration from extensive cancer of the bladder, cervix, vagina, vulva, etc.
Other rare (pre-)malignant anorectal tumors: Paget disease, Bowen disease, carcinoid, lymphoma, GIST, melanoma, small cell cancer, Kaposi sarcoma.
Benign lesions: anal condylomata, Buschke-Lowenstein giant condylomata, fistula with chronic perifistular induration, fissure with sentinel skin tag, thrombosed external hemorrhoid.
Visible or palpable mass, ulcerative lesion, asymmetric “fissure” → primarily locally destructive growth pattern (Figure 4–9). Inguinal lymph node involvement at time of diagnosis: 10–25%.
Several histopathologic subtypes (little impact on clinical decision-making process and outcome):
- • Squamous cell (cloacogenic) carcinoma (SCC, large cell keratinizing, 70–80%): with subtypes, transitional (large cell nonkeratinizing) and basaloid.
- • Adenocarcinoma (10–15%): arising from anal glands or apocrine skin glands.
- • Other histologies (2–10%): eg, small cell carcinoma.
History: bleeding, change in bowel habits, obstructive symptoms, weight loss? Any nonhealing anorectal condition? HIV status?
Clinical examination:
- – Inspection: visible skin changes (symmetric, asymmetric), lumps/bumps, eccentric ulcerations, secondary fistula openings, discoloration? Anything unusual? Concomitant pathology (eg, condylomata, hemorrhoids, tags, etc)?
- – Digital exam: perirectal induration, exact anatomic location, size, and internal extension of tumor? Sphincter tone?
- – Palpation of inguinal lymph nodes.
Biopsy (forceps, incisional): histologic confirmation of malignancy and subtype → most notably distinction between SCC and adenocarcinoma (rectum, anal glands).
HIV testing.
Anoscopy/proctoscopy: assessment of rectum for concomitant diseases (eg, STD proctitis)?
Females: GYN exam and assessment for concomitant cervical/vaginal pathology.
Staging: CT scan of abdomen and pelvis with inclusion of chest, or separate chest x-ray.
Full/partial colonic evaluation as per general screening guidelines and prior to any planned intervention (Note: anal cancer is not associated with an increased risk of colorectal cancer).
Blood work: CBC (anemia?), liver function (albumin, PTT, PT), kidney function.
Anorectal ultrasound: role not completely defined → evaluation of tumor size, depth of penetration, sphincter involvement, mesorectal lymph nodes.
Fine-needle aspiration or core biopsy of enlarged inguinal lymph nodes.
MRI, PET, PET-CT: role not yet defined in primary assessment unless tumor locally advanced.
- • Anal cancer: involvement of anal canal.
- • Anal margin cancer → staged and treated as “skin cancer.”
Anal cancer:
- • Nigro protocol (some variation of protocols): chemoradiation with 45–59 Gy in conjunction with 5-FU and mitomycin C.
- • Alternative: chemoradiation combined with 5-FU and cisplatin: particularly in HIV-positive parients.
Incidental carcinoma or carcinoma in situ pathology specimen (eg, excision of condylomata, hemorrhoidectomy) with clinically no residual tumor:
- • Watchful waiting with frequent clinical examination (vs reexcision of scar).
- • Alternative: Nigro protocol (as above).
Local tumor:
- • Anal SCC (including subtypes):
- – Residual tumor after completion of Nigro protocol.
- – Inability to tolerate chemoradiation (including noncompliance).
- – Recurrent tumor after initial complete clinical response.
- – Treatment-refractory, inoperable but highly symptomatic tumor.
- – Residual tumor after completion of Nigro protocol.
- • Adenocarcinoma: after neoadjuvant chemoradiation.
- • Perianal (anal margin) SCC: treatment as for skin cancer.
- • Buschke-Lowenstein tumor.
Regional lymph node manifestation: lymph node dissection not routinely performed, only for isolated inguinal nodal disease.
Long-term sequelae of tumor or tumor treatment:
- • Stricture.
- • Radiation proctitis.
- • Nonmanageable fistula.
- • Incontinence.
- • Tumor infiltration with pain.
Curative intent:
- • Abdominoperineal resection, if necessary with en-bloc resection of involved organs (vagina, bladder).
- • Same as above, but with inguinal lymphadenectomy (involvement = poor prognostic sign): radical lymphadenectomy or excision of enlarged nodes only (“cherry picking”).
- • Inguinal lymphadenectomy alone: regional lymph node recurrence with primary tumor in remission.
- • Perianal (anal margin) cancer: local excision with negative margins.
Diagnostic intent:
- • Not established diagnosis: incisional (rarely excisional) biopsy.
- • Exam under anesthesia, incisional/excisional or TruCut biopsies → distinction between residual tissue induration vs persistent tumor.
Palliation: creation of colostomy.
Complete clinical response to combined modality treatment (80–90%): 5-year survival 65–75%.
Residual disease after CMT (10–15%): 5-year survival 45–60%.
Locally recurrent disease (10–30%): 5-year survival 0–35%.
Probability of colostomy (due to persistent/recurrent disease or treatment sequelae: anorectal dysfunction, stenosis): 25–40%.
HIV-positive patients: worse outcome, lower tolerance to chemoradiation, increased treatment-related toxicity (80% vs 30%), fewer complete response (62% vs 85%), shorter time to death (1.4 vs 5.3 years).
Oncologic follow-up:
- • Clinical examination and blood work: every 3–6 months.
- • Imaging (CT abdomen/pelvis, chest x-ray/-CT): at least every 12 months.
Surgical reintervention for metastatic disease: benefit-risk analysis of surgery as opposed to more chemotherapy with/without radiation dependent on individual circumstances.
Polyp represents a descriptive term for any mucosal elevation. Characterization of polyps is based on:
- • Degree of attachment to bowel wall (eg, pedunculated, sessile, flat).
- • Pathologic nature (eg, hyperplastic, hamartomas or adenomas).
- • Histologic appearance (eg, tubular, tubulovillous, villous).
- • Neoplastic dignity (ie, benign, malignant).
Adenomatous and large serrated form of hyperplastic polyps are potentially malignant, whereas nonadenomatous polyps (eg, hyperplastic, hamartomatous, or inflammatory polyps) are benign. The adenomatous transition from benign to cancerous to some degree is paralleled by the increase in size (advanced adenoma: > 1 cm) and varying degrees of dysplasia: once dysplastic cells cross the boundaries of the mucosa (basement membrane) and start to invade the submucosa, a true cancer (carcinoma) with the potential to metastasize is established.
Nonepithelial polyps include lipoma and other mesenchymal lesions.
Incidence: at least 1 polyp in 25–40% of average-risk persons ≥ 50 years. Distal polyps = indicators → 5 times higher risk for more proximal lesions; > 50% of proximal advanced adenomas do not have distal polyps.
Presence of adenomatous polyps → 2–4 times higher risk of metachronous polyps (compared with absence of polyps). Repeat colonoscopy after 1–3 years → 3–5% advanced adenomas.
Polyps (regardless of pathology) most commonly asymptomatic; larger polyps → bleeding, anemia, lead point for intussusception, obstructive symptoms; large villous adenoma → mucus drainage, electrolyte imbalances.
Adenomatous polyps → cancer risk: villous > tubulovillous > tubular; size: < 1 cm → 3–9%, 1–2 cm → 10%, > 2 cm → 30–50%.
Hyperplastic polyps: no increased cancer risk, except for large serrated polyps.
Serrated adenoma: intermediate pathology between hyperplastic and adenomatous polyp → dysplasia and risk of cancer.
Hamartomatous polyps: no increased risk from the polyp itself, but potentially an indicator for otherwise increased risk → polyposis syndromes.
Inflammatory polyps: no increased risk of the polyp itself, but chronic inflammation (ulcerative colitis, Crohn disease) → increased cancer risk (often without polypoid mass).
At least low-grade dysplasia (by definition) → high-grade dysplasia if presence of irregular branching, back-to-back glandular and cribriform structures, loss of polarity, frequent mitosis:
- • Tubular adenoma: packed epithelial tubules with largely preserved basoapical cell differentiation and narrow stroma → some distortion, hyperchromic nuclei, mitotic figures rare.
- • Tubulovillous adenoma: combination of tubular and villous components.
- • Villous adenoma: > 80% long finger-like projections.
- • Hyperplastic polyps: 2–5 mm, most frequently in rectosigmoid, often multiple; crypt elongation, loss of columnar and goblet cell regularity → papillary or serrated appearance, moderate chronic inflammatory cells.
- • Hamartomatous polyps: non-neoplastic, incorrect combination of tissue components → “Swiss cheese” pathology: mucus-filled cystic spaces, connective tissue with acute and chronic inflammatory cells.
- • Inflammatory polyps (pseudopolyps).
Colorectal cancer screening and surveillance (per guidelines).
Diagnostic colonic evaluation for symptomatic patients.
Histopathology of resected/biopsied polyps → guidance for repeat testing.
Genetic counseling/testing if familial clustering or patient at young age.
Haggitt classification for cancerous polyps → description of tumor invasion in pedunculated or sessile polyp:
- • Pedunculated polyps:
- – Level 1: invasion limited to the head.
- – Level 2: invasion to the neck.
- – Level 3: invasion into the stalk.
- – Level 4: invasion to the base, ie, submucosa at the level of the bowel wall → 10% risk for lymph node metastases (like other T1 cancers).
- – Level 1: invasion limited to the head.
- • Sessile polyps → all lesions are level 4 (as above), additional level of submucosal invasion (Kudo classification: levels Sm1, Sm2, Sm3).
Endoscopic polypectomy and surveillance.
Chemoprevention: COX inhibitors, calcium, ASA → up to 35–45% reduction of metachronous polyps.
No benefit of oncologic resection: complete removal (snared in one piece) of cancerous polyp Haggitt levels 1, 2, and 3, well differentiated, no lymphovascular invasion, > 2 mm margin.
- • Any polyp that is not amenable to endoscopic removal (unless prohibitive contraindications).
- • Cancerous polyp with invasion into submucosa (Haggitt level 4, deep invasion into level Sm3), < 2 mm margin or piecemeal excision, unfavorable histology (poor differentiation, lymphovascular invasion).
- • Colon polyp: colonoscopic tattooing of target site → laparoscopic vs. open segmental resection (satisfying oncologic criteria) with primary anastomosis.
- • Rectal polyp:
- – Transanal excision or transanal endoscopic microsurgery (TEM).
- – Low anterior resection (LAR).
- – Transanal excision or transanal endoscopic microsurgery (TEM).
Colonoscopic polypectomies: reduction of cancer incidence by 76–90% (compared with expected historic rates). Risk of complications from polypectomy: perforation 0.1–0.3%, bleeding 0.5–3%.
Polyposis syndromes are characterized by the presence/development of numerous polyps in various parts of the GI tract, but frequently involve other manifestations. Some invariably lead to malignant transformation of the polyps and the development of cancer (eg, FAP, AFAP); other syndromes have polyps that remain benign and do not pose a direct cancer risk but may be an indicator of an increased risk for other intestinal or extraintestinal tumors.
- • Phenotype: multiple adenomatous polyps throughout the colon, periampullary duodenal polyps, gastric polyps, extracolonic manifestations (desmoids, etc).
- • Genetics: autosomal dominant, near complete penetrance.
- • Gene location: adenomatous polyposis coli (APC) gene on chromosome 5q21.
- • Natural course: nearly 100% colon cancer by age 40–45, 3–12% periampullary carcinoma.
- • Associated malignancies: colon cancer, pouch cancer, periampullary adenocarcinoma, desmoid, thyroid cancer.
- • Variants:
- – Gardener syndrome: osteomas, desmoid tumors, thyroid neoplasms, congenital hypertrophy of the retinal pigment epithelium.
- – Turcot syndrome: brain tumors.
- – Attenuated FAP (AFAP): later presentation, more proximal polyp distribution.
- – Gardener syndrome: osteomas, desmoid tumors, thyroid neoplasms, congenital hypertrophy of the retinal pigment epithelium.
- • Phenotype: often indistinguishable from FAP, except for slightly lower number of adenomatous polyps throughout the colon; extracolonic manifestations are present but less frequent than FAP: upper GI tract polyps (→ periampullary cancer), osteomas, dental abnormalities, CHRPE, etc.
- • Genetics: autosomal recessive, near complete penetrance.
- • Gene location: base excision repair gene MYH, chromosome 1p34-32.
- • Natural course: diagnosis of MAP around age 50, nearly 100% colon cancer by age 65.
- • Associated malignancies: colon cancer, periampullary adenocarcinoma, breast cancer, thyroid cancer.
- • Counseling: both parents and all children are gene carriers.
- • Phenotype: hamartomatous polyps of the GI tract, particularly upper GI tract, cutaneous melanin deposits (eg, perioral, buccal mucosa, etc).
- • Genetics: autosomal dominant, variable penetrance.
- • Gene location: LKB1/STK (chromosome 19p13), and other genes.
- • Natural course: majority of patients asymptomatic, rarely obstructive symptoms or bleeding.
- • Associated malignancies: moderately increased risk of GI and extraintestinal malignancies.
- • Phenotype: hamartomatous polyps, 15% associated with congenital birth defects.
- • Genetics: autosomal dominant.
- • Gene location: BMPR1A or SMAD-4 gene (chromosome 18q21), and other genes.
- • Natural course: average age of onset 18 years, polyps most frequently in rectosigmoid region; variable symptoms: GI bleeding, intussusception, rectal prolapse, protein-losing enteropathy.
- • Associated malignancies: significant risk of colorectal cancer.
- • Diagnostic criteria: ≥ three juvenile polyps, polyposis involving entire GI tract, or any number of polyps but known family history of juvenile polyps.
- • Caveat: isolated juvenile polyps without malignant potential.
- • Phenotype: multiple hamartoma-neoplasia syndrome from ectodermal and less from endodermal elements: tricholemmoma 80%, macrocephaly 40%, GI polyposis only in 35%, benign thyroid or breast disease.
- • Genetics: autosomal dominant, nearly complete penetrance.
- • Gene location: PTEN tumor suppressor gene, chromosome 10q23.
- • Natural course: symptomatic by age 20 years.
- • Associated malignancies: no increased risk of GI malignancy, 10% thyroid cancer, 30–50% breast cancer.
- • Phenotype: excessive growth before/after birth, macrocephaly, mental and psychomotor retardation, and other abnormalities; multiple hamartomatous polyps in GI tract; lipomas; genital pigmented macules.
- • Genetics: autosomal dominant, nearly complete penetrance.
- • Gene location: PTEN tumor suppressor gene, chromosome 10q23.
- • Natural course: pediatric counterpart to Cowden syndrome.
- • Associated malignancies: no increased risk of colorectal cancer, or any other GI or extraintestinal malignancy.
- • Phenotype: diffuse polyposis throughout entire GI tract (except esophageal sparing), ectodermal abnormalities (eg, alopecia, onychodystrophy, skin hyperpigmentations).
- • Genetics: autosomal dominant.
- • Gene location: PTEN tumor suppressor gene, chromosome 10q23.
- • Natural course: diarrhea, protein-loosing enteropathy, weight loss, nausea, vomiting, anorexia, paresthesias, seizures and tetany related to electrolyte abnormalities.
- • Associated malignancies: increased risk for cancer of stomach, colon, and rectum (15% with malignant tumor at time of diagnosis).
- • Phenotype: multiple hyperplastic polyps throughout entire colon and rectum, including large polyps (> 1 cm) and location proximal to sigmoid colon.
- • Genetics: unknown.
- • Gene location: unknown.
- • Natural course: average age 50–70 years, no specific symptoms.
- • Associated malignancies: increased risk for colorectal cancer, proximal > distal.
- • Phenotype: multiple lymphoid polyps throughout entire colon and rectum.
- • Genetics: unknown.
- • Gene location: unknown.
- • Natural course: children and adults, no specific symptoms, occasionally associated with immunodeficiency disorders.
- • Associated malignancies: no increased risk for colorectal cancer.
Genetic counseling and testing → individual and family risk assessment.
FAP is an autosomal dominant inherited syndrome with near complete penetrance in forming benign and malignant colonic and extracolonic tumors. Caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21 which results in transcription of truncated/nonfunctional protein instead of tumor-suppressing APC protein. Phenotype varies depending on exact location of APC mutation. Affected patients develop > 100, often several thousand, adenomatous intestinal polyps, starting at young age (early teens to early 20s), with nearly 100% probability of developing colorectal cancer (CRC) by age 40–45 years unless prophylactic surgery is performed. Attenuated variant of FAP (AFAP) with lower number of polyps, later onset of resulting cancer, often rectal sparing.
Extracolonic manifestations:
- • Duodenal adenomas in > 80% of FAP patients; periampullary adenocarcinoma in 3–12% of FAP patients = second most frequent cancer in FAP, main cause of cancer-related death (since colorectal cancer [CRC] risk is eliminated by prophylactic surgery).
- • Desmoids: locally invasive/expansive proliferation of fibromatous tumors affecting 10–15% of FAP patients (majority after surgical trauma); familial pattern → leading cause of death in FAP patients (ureteral and SBO, inability to perform other necessary surgeries); specific sites of APC mutations associated with increased desmoid risk.
- • Gastric fundic gland polyps: in 30–60% of FAP patients, nonadenomatous nature, no malignant potential.
- • Congenital hypertrophy of the retinal pigmented epithelium (CHRPE): most common extracolonic manifestation of FAP (60–85% of patients with FAP): bilateral benign pigmented hamartomas; no clinical significance; 95% specific as cheap, noninvasive screening test in families with FAP.
- • Papillary thyroid cancer: 1–2%, especially in younger women.
- • Hepatoblastoma: uncommon tumor in children with FAP.
Less than 1% of all CRC, 1 in 7000–10,000 live births; 70–80% are truly inherited (even if positive family history not always evident), 20–30% are new germline mutations.
Negative family history: symptoms from growing and increasingly numerous polyps/cancer: bleeding, urgency, colorectal cancer at young age, potentially extracolonic manifestations (osteomas, dental malformation, retinal hyperpigmentation).
Positive family history: diagnosis and prophylactic treatment before symptoms!
Other types of hereditary cancers: HNPCC (autosomal dominant), MAP (homozygous recessive).
Familial CRC without identifiable gene mutation.
Nonadenomatous polyposis, eg, hyperplastic polyposis.
Diffuse lymphoid hyperplasia.
Macroscopic: > 100 polyps throughout the colon, starting as small sessile polyps, increasing in size.
Microscopic: adenomatous polyps.
Identification/management of family members at risk: chart documentation that patient was counseled and informed about this aspect (caveat: litigation!).
Biopsy confirmation of adenomatous nature of polyps.
EGD: baseline endoscopy in early 20s, subsequent frequency depending on findings.
Family history, genetic counseling/testing (unless already done).
Annual colonoscopy starting at age 12–14 years, removal of larger polyps.
Screening for other extracolonic cancers: EGD (bi-)annually.
At age 15–25 years or if already diagnosed with cancer or large/high-grade polyps → surgery.
Diagnosis: rigid sigmoidoscopy or flexible endoscopy + biopsy → multiple adenomatous polyps.
EGD: upper GI involvement?
Family history.
Genetic counseling/testing.
Individual workup as for sporadic CRC → surgery.
Same as for CRC.
Genetic testing.
Thyroid ultrasound.
Variants of the adenomatous polyposis syndrome classified as:
- • Gardener syndrome (APC mutation at the 3′ end of exon 15): osteomas, dental anomalies (form/number), epidermal cysts, desmoid tumors, thyroid neoplasms, CHRPE.
- • Turcot syndrome: brain tumors (medulloblastoma, glioblastoma).
- • AFAP (attenuated FAP): lower number and later onset of both the polyps and the resulting cancer, rectum often spared.
Caveat: currently, nonoperative management can only be considered supportive, but not with the intent to replace surgery.
Chemoprevention: role not defined. NSAID-derivatives with inhibition un-selectively for COX-1/COX-2 or selectively for COX-2 (eg, sulindac, celecoxib): reduction of colonic polyps, but uncertain whether cancer reduced or delayed; no effect on duodenal adenomas. Potential benefit for desmoid tumors: overall only a supportive but never a definitive treatment for FAP.
Annual colonoscopy and polypectomy (does not replace need for prophylactic surgery).
Depending on tumor stage: adjuvant chemotherapy (colon cancer), chemoradiation (proven rectal cancer): always in neoadjuvant setting if ileal J-pouch planned to avoid radiating the pouch.
- • Asymptomatic affected member of FAP family: plan surgery at age between 15–25 years.
- • Symptomatic patients (incidental FAP diagnosis): any cancer, advanced adenoma (large size or high-grade dysplasia), or increasing number of polyps, unless diffuse metastases or prohibitive contraindications. Caveat: neoadjuvant chemoradiation for all rectal cancers!
- • Proctocolectomy with ileal J-pouch anal anastomosis (IPAA): double-stapling technique (routine), or mucosectomy and handsewn anastomosis (rectal cancer/dysplasia/very distal polyps).
- • Colectomy and ileorectal anastomosis (IRA): if < 20 rectal polyps, no cancer.
- • Proctocolectomy and ileostomy: if contraindication for J-pouch.
Prophylactic surgery → elimination of CRC, elimination of ampullary cancer, but persistent risk for desmoids, small bowel, and pouch cancer.
Outcome of therapeutic surgery for CRC, ampullary cancer, and thyroid cancer is dependent on tumor stage.
Continued annual surveillance/screening of residual rectal mucosa and/or pouch.
Frequency of EGD is dependent on upper GI involvement.
Participation in registry for inherited CRC is recommended.
HNPCC (Lynch syndrome I/II, syndrome X) is the most common form of inherited colorectal cancer (CRC). Underlying autosomal dominant mutations in DNA mismatch repair genes: hMLH1 and hMSH2 (90% of the mutations in HNPCC families), hMSH6 (7–10%), PMS1, and PMS2 (5%).
Caveat: despite “nonpolyposis” label, cancer arises within polyp precursor lesion, but there are not hundreds of polyps.
Constitutes 3–5% of all CRC. HNPCC: autosomal dominant disorder, penetrance ~80%. Accelerated adenoma-carcinoma sequence (2–3 years). Lifetime risk of developing colon cancer ~80%, endometrial cancer 40–60%, urinary tract cancer 18–20%, ovarian cancer 9–12%. Risk of metachronous colorectal cancer 45% (after segmental resection, 10–15% after total colectomy/ileorectostomy); 70% of colon tumors are proximal to splenic flexures.
Development of colorectal (and associated) cancer at young age. Symptoms often absent, otherwise not principally different from sporadic CRC.
Macroscopic: limited number of (often flat) polyps, predominantly right-sided (ie, proximal to splenic flexure).
Microscopic: cancers often poorly differentiated adenocarcinoma; medullary growth pattern, signet ring, and mucinous differentiation.
Microsatellite instability (MSI): 90–95% of HNPCC tumors are MSI+, high frequency of MSI (changes in ≥ two of the five panels) compared with 15–20% MSI+ in sporadic CRC.
Identification/management of family members at risk: chart documentation that patient was counseled and informed about this aspect (caveat: litigation!).
Family history, genetic counseling/testing (unless already done).
Annual colonoscopy starting age of 25 years (no later than 10–15 years prior to cancer onset in youngest family member).
Women: → annual endometrial aspiration.
Screening for other extracolonic cancers: lack of clear guidelines → according to family patterns. If cancer, high-grade polyps, or increasing number of polyps → surgery.
Family history: Amsterdam criteria? In ~50% of proven HNPCC, families do not meet criteria.
Genetic testing: Bethesda criteria?
Identification/management of family members at risk: chart documentation that patient was informed about this aspect (caveat: litigation!)
Individual workup as for sporadic CRC prior to surgery.
Same as for CRC.
- • Amsterdam II criteria: ~50% of families who meet criteria have HNPCC.
- • Bethesda criteria → MSI+, MSI–.
- • Lynch I: CRC only.
- • Lynch II: CRC and extracolonic malignancies.
- • Muir-Torre syndrome: inherited CRC with sebaceous tumors of the skin.
- • Syndrome X: familial CRC of undetermined type; strong family history of CRC only (Amsterdam-positive, MSI-negative, normal MMR genes), more common on the left side, nonmucinous, not multifocal, average age of onset: 50th decade.
Chemoprevention: role not defined.
Annual colonoscopy and polypectomy.
Depending on tumor stage: adjuvant chemotherapy (colon), or (neo-)adjuvant chemoradiation (rectum).
Any cancer, advanced adenoma (large size or high-grade dysplasia), or increasing number of polyps, unless diffuse metastases or prohibitive contraindications.
- • Subtotal colectomy (therapeutic + prophylactic): recommended for all tumors proximal to sigmoid colon, unless rejected by patient or patient-specific medical contraindication to extensive colon shortening).
- • Segmental colorectal resection: therapeutic only (following oncologic principles).
- • Rectal cancer in HNPCC: low anterior resection (with/without neoadjuvant chemoradiation), prophylactic proctocolectomy typically not recommended because of its significant functional impact.
- • Women (particularly if uterine cancer in family, or mutations in hMSH6, or in hMSH2 and hMLH1): consideration/discussion of hysterectomy/oophorectomy (when childbearing completed, beginning of menopause, or during any other abdominal surgery).
Controversial whether in a stage-by-stage comparison MSI is associated with better outcome and better response to chemotherapy than sporadic CRC despite poor histopathologic features.
Continued surveillance/screening for CRC and extracolonic tumors → annual complete endoscopy of colorectal mucosa: colonoscopy (presurgery), flexible sigmoidoscopy (after surgery), endometrial aspiration.
Colorectal cancer (CRC) is the most frequent malignancy in the realm of the colorectal surgery specialty, the third most frequent cancer overall, and the second leading cause of cancer death. Cancer therefore in the differential diagnosis of almost any symptom.
Intrinsic risk factors: family history, polyps, genetic mutations (FAP, HNPCC), IBD (eg, ulcerative colitis), African American ethnicity.
Extrinsic risk factors: sedentary lifestyle, smoking, radiation colitis, status post ureterosigmoidostomy; diet high in fat/calories/protein and alcohol, low in fiber (more recently questioned again); lack of vitamin D, sun exposure, calcium, folate.
Population risk categories (Table 4–3):
- • Low or average risk (65–75%): asymptomatic—no risk factors, no CRC in any first-degree relatives.
- • Moderate risk (20–30%): CRC in one first-degree relative aged ≤ 55 years, or ≥ two first-degree relatives of any ages (Table 4–4), personal history of curative resection of colorectal malignancy or large polyp (> 1 cm) or multiple colorectal polyps of any size.
- • High risk (6–8%): FAP, HNPCC, IBD.
| Sporadic Colorectal Cancer | FAP | HNPCC | IBD | |
|---|---|---|---|---|
| Variants | AFAP, Gardner, Turcot | Lynch I/II | Ulcerative colitis | |
| Crohn disease | ||||
| Genetics | _ | + | + | ? |
| Autosomal-dominant | Autosomal-dominant | |||
| Genes | Chromosomal deletions, k-ras,DCC, p53, APC | APC | MSH2, MLH1, PMS1/2, MSH6 | ? |
| Age of onset | > 40 years; average 70–75 years | Polyps start after age 10–20 years, cancer in nearly 100% by age 40 years; later onset in AFAP | < 50 years | Any, often young patients |
| Number of polyps | Variable, < 10 | > 100 | < 10 | Inflammatory pseudopolyps |
| Risk | 5–6% of population | 100% | > 80% | Depending on age at onset, duration of disease, extent of active disease |
| Location | Left > right colon | Any location | Right colon > left | Active disease |
| Chemoprevention | NSAID? | NSAID | ? | IBD suppression? |
| Vitamins? | ||||
| Calcium? | ||||
| Screening | > 50 years; > 45 years in African-Americans | > 10–15 years | > 25 or 10–15 years before cancer onset in youngest family member | 7 years post onset, annually |
| Genetic counseling | Genetic counseling | |||
| Associated risks | ? | Ampullary cancer, desmoids, thyroid cancer, other abnormalities | Endometrial and other cancers | Extracolonic disease |
| Affected Family Members | Estimated Risk Compared to 6–7% Lifetime Risk in General Population |
|---|---|
| 1 FDR with CRC | 2–3× |
| 2 FDR with CRC | 3–4× |
| 1 FDR ≤ 40 years with CRC | 3–4× |
| 1 FDR with adenomatous polyp | 2× |
| 1 SDR (grandparents, aunt/uncle) with CRC | 1.5× |
| 2 TDR (cousins etc) with CRC | 1.5× |
Evolution from normal colon to established cancer: 10 years (average population), 3–5 years (HNPCC). Slow evolution, carcinogenesis through visible precursor stage (polyp), and ability to completely visualize the colon make CRC theoretically completely preventable. Screening guidelines established but not even close to full implementation.
Choice of optimal treatment depends on stage and tumor location, complications of disease, presentation (ie, emergency vs elective), presence of underlying colonic disease, presence of comorbidities. Distinction of colon cancer (eg, sigmoid cancer) from rectal cancer very important for treatment planning to define the role of (neo-)adjuvant radiation.
Annual incidence in US: 145,000 new cases of CRC, 55,000 CRC deaths (9–10% of all cancer deaths). Average lifetime risk: 1:18 Americans (5–6%). Peak incidence during 7th decade, but 5% of patients are < 40 years old, 10% < 50 years old. In 90% of patients tumors are sporadic, 10% have positive family history, 1% FAP. CRC is 90% curable if detected early.
Stage at presentation: stage I = 25%, stage II = 30%, stage III = 35%, stage IV = 20%.
Most commonly asymptomatic → symptoms are always late signs of the cancer!
Incidental detection during colonoscopy.
Symptoms: bleeding, unexplained anemia, altered bowel habits, constipation, narrowed stools, complete obstruction, abdominal pain, perforation, abdominal mass, weight loss.
Complications: massive bleeding, large bowel obstruction, perforation, liver failure.
Symptoms: any other cause for bleeding or obstruction—IBD, particularly Crohn disease, other forms of colitis (ischemic, infectious including pseudomembranous C difficile colitis, radiation), diverticulitis, IBS.
Secondary colon involvement from other malignancies: stomach, pancreas, OB/GYN, kidney, lobular invasive breast cancer, leukemic infiltrates.
Rare tumors: carcinoid, lymphoma, GIST, melanoma.
Premalignant polyps: particularly villous polyps may involve large and circumferential area.
Nonmalignant: endometriosis, prolapse/intussusception, benign tumors (eg, lipoma), pseudoobstruction (Ogilvie syndrome).
- • Polypoid friable mass vs ulcerating crater with elevated edges, variable size, and involvement of the circumference (Figures 4–10A and 4–10B). IBD: cancer growth often flat, diffusely growing into wall.
- • Pattern of metastatic dissemination: lymphovascular → lymph nodes, hematogenous → portal system → liver metastases → lung metastases.
- • Adenocarcinoma in the overwhelming majority of cases (> 95%). Rare subforms: mucinous or signet ring cell carcinoma, adenosquamous carcinoma.
- • Intramucosal carcinoma (Tis) = carcinoma in situ = high-grade dysplasia: cancer not penetrating through muscularis mucosa. Invasive cancer: invasion of muscularis propria and beyond.
- • Negative prognostic growth patterns: lymphovascular invasion, perineural invasion, extranodal tumor deposits.
- • Minimum of 12–15 lymph nodes necessary for adequate oncologic staging of specimen.
History: bleeding, change in bowel habits, obstructive symptoms, weight loss?
Clinical examination: palpable tumor, abdominal distention, local tenderness or peritoneal signs, organomegaly, digital rectal exam → palpable tumor, blood on stool, or melena?
Distinction between sigmoid cancer and rectal cancer: 15 cm from anal verge by means of rigid sigmoidoscopy.
Colonoscopy: gold standard to establish diagnosis, full colonic evaluation always needed prior to elective surgery to rule out synchronous cancer or polyps to determine extent of resection, low threshold for tattooing of tumor site or most distal/proximal polyp → facilitation of intraoperative localization, particularly for laparoscopic approach.
Abdominal imaging study (sonography, CT scan): evaluation of involvement of liver or urinary system (Figure 4–10C), evidence for carcinomatosis?
Tumor marker: CEA.
Chest x-ray (or chest CT): metastatic disease, free air, cardiopulmonary operability?
Contrast studies (barium or Gastrografin enema): incomplete colonoscopy, nearly obstructing tumor, suspected perforation (→ water-soluble contrast).
Virtual colonoscopy: role not defined, risk of perforation.
MRI, PET, PET-CT: role not yet defined in primary assessment.
Blood work: anemia, liver function (albumin, PTT, PT), kidney function.
- • Based on location in colon.
- • Based on stage: localized, locally advanced (size, infiltration of other structures), metastatic.
- • Based on TNM stage.
Inoperable patients due to comorbidities.
Inoperable/incurable due to extent of abdominal tumor (eg, carcinomatosis) → symptom control, possible stenting.
Metastatic disease with liver replacement > 50% → palliative chemotherapy.
- • Any colon cancer (unless prohibitive contraindications).
- • Even in presence of systemic tumor manifestations, achieving local tumor control still desirable, potentially simultaneous or staged metastasectomy in curative intent still possible.
- • Oncologic resection with lymphadenectomy: > 5 cm safety margin, exact extent of resection depends on site of tumor and lymphovascular drainage (Figure 4–10D):
- – Cecum/ascending: right hemicolectomy with right branch of middle colic artery.
- – Hepatic flexure/transverse colon: extended right hemicolectomy including full middle colic artery.
- – Splenic flexure: (1) extended left hemicolectomy including middle colic artery, (2) extended right hemicolectomy/subtotal colectomy.
- – Descending colon: (1) left hemicolectomy with left branch of middle colic artery to IMA/left colic artery, (2) subtotal colectomy.
- – Sigmoid colon: sigmoid resection with superior hemorrhoidal artery or IMA.
- – Cecum/ascending: right hemicolectomy with right branch of middle colic artery.
- • Special considerations:
- – Synchronous cancers: (1) two separate resections, (2) subtotal colectomy.
- – Cancers adhering to other structures: en-bloc resection.
- – Liver metastases: simultaneous resection reasonable if feasible and tolerated (vs staged resection).
- – Prophylactic oophorectomy not indicated but recommended when one or both ovaries grossly abnormal.
- – Carcinomatosis: resection of primary tumor, no routine role for intraperitoneal catheter.
- – Laparoscopic approach equivalent in skilled hands.
- – Synchronous cancers: (1) two separate resections, (2) subtotal colectomy.
- • Patient < 50 years/HNPCC: (1) (sub-)total colectomy with ileosigmoidal/-rectal anastomosis, (2) segmental resection (as above)
- • FAP: (1) proctocolectomy, (2) total abdominal colectomy with ileorectal anastomosis if no rectal cancer and number of rectal polyps < 20.
- • Sentinel lymph node mapping: concerns about high false-negative rate, role not defined.
- • Right-sided tumor: definitive surgical treatment as above, primary ileocolonic anastomosis.
- • Left-sided tumor:
- – Resection with on-table lavage and primary anastomosis.
- – Stent placement for decompression of LBO → bridging to (semi-)elective resection with primary anastomosis.
- – More extensive resection to allow ileocolonic anastomosis: subtotal colectomy with primary ileosigmoidal or ileorectal anastomosis.
- – Two-stage procedure: (a) Hartmann type resection (→ elective Hartmann reversal), (b) primary anastomosis with proximal diversion (→ elective ostomy takedown), (c) proximal diversion (→ elective resection and ostomy takedown)
- – Three-stage procedure (largely abandoned): proximal diversion (transverse colostomy) → elective resection and anastomosis (with maintained diversion) → elective ostomy takedown.
- – Resection with on-table lavage and primary anastomosis.
- • Segmental wedge resection.
- • Proximal diversion only.
- • Internal bypassing of obstructed segment.
- • Stenting.
Five-year survival: all stages 65%; stage I 90–93%, stage II 80–85%, stage III 60–65%, stage IV 5–8%. Prognostic factors: see Table 4–5.
| Category | Parameter |
|---|---|
| Stage | Tumor penetration through the bowel wall (T4 tumor stage) |
| Regional lymph node involvement (N1, N2) | |
| ≥ 4 positive regional lymph nodes (N2) | |
| Surgeon/pathologist | Tumor involvement of surgical margins |
| ≤ 12 lymph nodes removed (surgeon) or examined/reported (pathologist) | |
| Tumor complication | Bowel obstruction |
| Bowel perforation (particularly if perforation at tumor site) | |
| Histopathology | Poorly differentiated histology |
| Lymphovascular invasion | |
| Perineural invasion | |
| Marker | Preoperative CEA > 5.0 |
| Microsatellite-stable tumors | |
| Specific chromosomal deletions (eg, chromosome18q loss of heterozygosity) |
Mortality of elective oncologic resection: 1–3%.
Rate of permanent stoma: minimal in specialized colorectal centers, higher in nonspecialized units: 20–40% of “temporary” stomas (eg, Hartmann resection) never reversed.
Complications: bleeding, wound infections (5–10% elective, 15–40% fecal peritonitis), anastomotic leak (1–2%), abscess formation, enterocutaneous fistula, splenic injury, pancreas injury, ureteral injury.
Emergency intervention: planning of necessary subsequent surgeries after adequate physical/nutritional recovery.
Adjuvant chemotherapy: for all stage III tumors and for selected stage II tumors.
Palliative chemotherapy: for stage IV tumors.
Oncologic follow-up: colonoscopy after 1 year, subsequently depending on findings. Clinical examination and blood work (including CEA) every 3–6 months. Imaging (CT abdomen/pelvis, chest x-ray/-CT annually).
Surgical reintervention:
- • Metastatic disease: sandwich approach (resection of primary tumor, chemotherapy, resection of metastases).
- • Recurrent disease: re-resection if localized.
- • Carcinomatosis: one exploration often justified, subsequently individualized.
Colon and rectal cancer share the majority of baseline features (eg, etiopathogenesis, symptoms, pathology). However, rectal cancer—unlike colon cancer—is more complex and carries an increased risk of local recurrences. Higher complexity is related to intricate rectal anatomy with bony pelvic confinement, proximity to other organs, proximity to sphincter and pelvic floor muscles; various levels of blood supply; multidirectional lymphovascular drainage within a defined fascial compartment.
Treatment of rectal cancer has therefore evolved from a surgery-only to a multi-modality approach. While spectrum of treatment options continue to expand (radical vs local, sphincter-preserving vs APR, open vs laparoscopic, etc), the surgeon’s experience and surgical technique as well as pretreatment assessment of tumor extension are of utmost importance for outcome.
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