chapter 6
Small intestinal disorders
Questions
Through which ion transporter does ORT act?
A. Cystic fibrosis transmembrane conductance regulator (CFTR)
B. Epithelial sodium channel (ENaC)
C. Glucose transporter 1 (GLUT1)
D. Sodium/glucose cotransporter 1 (SGLT1)
2.A 46-year-old woman presented with a 5-month history of profuse diarrhoea despite fasting, and associated abdominal bloating. She complained of increasing fatigue and flushing, and appeared dehydrated.
Investigations:
Haemoglobin | 125 g/L |
Serum sodium | 144 mmol/L |
Serum potassium | 1.9 mmol/L |
Serum urea | 7.3 mmol/L |
Serum creatinine | 136 µmol/L |
Plasma viscosity | 1.76 mPa/s |
Which of the following is the most likely diagnosis?
Regarding gut hormones, which of the following statements is true?
B. Gastrin is produced by G cells of the duodenum in response to raised gastric pH
C. Glucagon-like peptide 1 stimulates glucose-dependent glucagon release from the pancreatic islets
E. Somatostatin increases gut motility and stimulates pancreatico-biliary secretions
4.You reviewed a 47-year-old patient in clinic with a body mass index (BMI) of 34 kg/m2. They asked for your opinion on the role of leptin in obesity.
Which of these statements is true?
A. Ethnicity exerts a significant effect on leptin concentrations
B. Leptin is a product of the lep gene primarily expressed in adipocytes
C. Most patients with obesity have low serum leptin
D. Overeating reduces circulating leptin levels
E. Supraphysiological doses of leptin may reduce food intake in patients of normal weight
5.A 43-year-old woman with a BMI of 37 kg/m2was referred for gastric bypass surgery. She was consented for a research study investigating satiety hormones in those undergoing bariatric surgery.
Which of the following statements best describes the behaviour of ghrelin?
A. Levels fall before meal ingestion but gradually rise in the subsequent two hours
B. Levels remain unchanged before and after meal ingestion
C. Levels rise sharply before and fall shortly after meal ingestion
D. Levels rise sharply before meal ingestion and remain high afterwards for several hours
E. Levels are unchanged before meal ingestion but fall rapidly afterwards
7.A 25-year-old scientist was referred for a second opinion due to persistent abdominal pain, nausea, abdominal distension, and weight loss. All investigations had been normal and enteric dysmotility was suspected. She enquired about measuring small bowel contractility.
8.A 38-year-old man presented with recurrent abdominal pain, every other day, for the previous three months.
Which of the following most favours a diagnosis of irritable bowel syndrome (IBS)?
Which of the following should you recommend next?
10.You have been invited to present to the local coeliac disease patient support group about the practicalities of a gluten-free diet.
Which one of the following foods and drinks could be included in a gluten-free diet?
Investigations:
Haemoglobin | 121 g/L |
White cell count | 5.4 × 109/L |
Platelet count | 174 × 109/L |
Mean corpuscular volume (MCV) | 87 fL |
Serum ferritin | 12 μg/L |
Serum C-reactive protein (CRP) | 0.2 mg/L |
Serum vitamin B12 | 358 ng/L |
Serum folate | 1.9 μg/L |
Serum vitamin D | 51 nmol/L |
immunoglobin A tissue transglutaminase antibody (IgA TTG) | <0.2 U/ml |
Total IgA | 0.05 g/L |
human leukocyte antigen (HLA) status | DQ 2.5 heterozygote |
Gastroscopy | Macroscopically normal |
Duodenal histology | Marsh 3C villous atrophy and crypt hyperplasia with intraepithelial lymphocytosis |
What is the most appropriate test to establish a diagnosis?
Investigations:
At diagnosis | At present | |
Haemoglobin | 116 g/L | 134 g/L |
MCV | 87 fL | 93 fL |
Serum ferritin | 8 µg/L | 42 µg/L |
Serum vitamin B12 | 246 ng/L | 283 ng/L |
Serum folate | 2.2 µg/L | 4.9 µg/L |
IgA TTG | 1800 U/ml | 7 U/ml |
Duodenal histology | Marsh 3C villous atrophy and crypt hyperplasia with intra-epithelial lymphocytosis | Fig. 6.1 |
Image courtesy of Dept of Histopathology, Oxford University Hospitals NHS Foundation Trust
How would you classify the histological features?
13.A 23-year-old patient with coeliac disease was worried about their bone health.
Which of the following statements is true?
A. A bone density scan does not need to be performed until the age of 50
B. Bone density will not increase during the first year of a gluten-free diet
C. Calcium intake should be at least 1,000 mg per day
D. Patients with ongoing villous atrophy require annual bone density scans
E. The risk of osteoporosis and bone fracture is not increased in patients with coeliac disease
14.A 25-year-old man presented as an emergency with abdominal pain, distension, vomiting and weight loss of 6 kg in two months. Over the past few days he had occasionally opened his bowels and had noted some blood on the paper when wiping. He had a past history of coeliac disease and insisted he was compliant with a gluten-free diet. Axillary and inguinal lymphadenopathy was present.
Investigations:
Haemoglobin | 113 g/L |
MCV | 79.4 fL |
Serum ferritin | 13 µg/L |
IgA TTG | 359 U/ml |
Faecal occult blood | Positive |
Which of the following is the most likely diagnosis?
Investigations:
Gastroscopy | Normal |
Ileocolonoscopy | Normal |
CT enterography | There is no small bowel inflammation but there is a suggestion of a mid-ileal small bowel mass. Several poorly characterized liver lesions are seen. MRI liver recommended. |
thyroid-stimulating hormone (TSH) | 0.38 mU/L |
24-hour urinary 5-hydroxyindolacetic acid (5-HIAA) | 523 μmol |
What is the most likely diagnosis?
16.A 48-year old homeless man was admitted with a one week history of confusion and diarrhoea, passing loose, watery stool several times a day with urgency. He drank approximately 140 units of alcohol a week. He was confused with disorientation to place and time. An Abbreviated Mental Test Score was 2/10. There was no evidence of confabulation. On examination he was alert, but confused, with normal neurological examination and no nystagmus or ophthalmoplegia. He had poor dentition. He had a non-itchy, erythematous, symmetrical rash, predominantly on his face, neck, hands and forearms, with some blebs and blisters.
Which nutritional deficiency would best explain the presentation?
Investigations:
Haemoglobin | 95 g/L |
MCV | 105 fL |
Serum ferritin | 276 µg/L |
Serum folate | 1.4 µg/L |
Serum vitamin B12 | 358 ng/L |
Serum CRP | 4.3 mg/L |
What is the most likely cause of her folate deficiency?
18.A 76-year-old man was referred to clinic with abnormal blood tests. There was no history of loose stools, abdominal pain, or weight loss. He had a past medical history of type 2 diabetes. His only medications were metformin, aspirin, and ranitidine when required.
Investigations:
Haemoglobin | 98 g/L |
MCV | 113 fL |
Serum ferritin | 276 µg/L |
Serum folate | 2.4 µg/L |
Serum vitamin B12 | 123 ng/L |
Intrinsic factor antibodies | Negative |
Which is the most likely underlying cause of his presentation?
Investigations:
Haemoglobin | 111 g/L |
MCV | 77 fL |
White cell count | 6.0 × 109/L |
Platelet count | 300 × 109/L |
Serum CRP | 4 mg/L |
Serum ferritin | 13 μg/L |
Serum folate | 8 μg/L |
Serum vitamin B12 | 250 ng/L |
Coagulation screen | Normal |
Urinalysis | Normal |
Which micronutrient deficiency is the most likely cause for his presentation?
20.A 35-year-old woman presented with increasing orthopnoea and breathlessness on minimal exertion. On examination, her jugular venous pressure (JVP) was raised, she had pitting oedema to her thighs, and her breath sounds were reduced bibasally. She had recently arrived in the UK from rural China to visit her cousin. She felt generally weak and her cousin said that her mood was different from usual.
Investigations:
Full blood count | Normal |
TSH | 5.9 mU/L |
Free T4 | 9.8 pmol/L |
Free T3 | 2.1 pmol/L |
Chest radiograph | Blunted costophrenic angles and cardiomegaly |
Echocardiogram | Dilated left ventricle, globally reduced systolic function |
Which micronutrient deficiency is the most likely cause for her presentation?
Which of the following statements is true?
A. Lactase persistence in Caucasians is due to a loss-of-function mutation in the lactase gene
B. Lactose malabsorption in adults is most commonly caused by lactase non-persistence
C. SGLT1 and GLUT2 transport the monosaccharides into enterocytes via passive diffusion
D. The brush border enzyme, lactase, cleaves lactose into two glucose monosaccharides
E. The diagnosis should be suspected in the presence of a positive lactulose-hydrogen breath test