Whipple’s Disease

(N Engl J Med 2007;356:55-66)

DEFINITION:

An extremely rare infectious illness that causes an intestinal malabsorption process
- Can have numerous other potential manifestations including rheumatological, cardiopulmonary, and neurological

EPIDEMIOLOGY:

Extremely Rare; 1907-1987 only 696 cases reported
Predilection: white males in their fourth or fifth decade with exposure to soil & animals (i.e. farms)

ETIOLOGIES:

Etiologic agent identified in 1992: Tropheryma whipplei; Gram-positive bacillus, PAS positive, Acid-fast negative
- Thought to be related to other soil-borne Actinomyces
Patients appear to have lack of immune response
Accumulation of massive numbers of organisms in GI tract
Subsequent impaired nutrient absorption

CLINICAL MANIFESTATIONS/PHYSICAL EXAM:

Four cardinal clinical manifestations: arthralgia, weight loss, diarrhea, abdominal pain
- Arthralgias may be present for years before diagnosis (clue)
General manifestations: Fever in >50%, Hyperpigmentation and Lymphadenopathy
Rheumatologic manifestations: arthralgias in 67% and most have symptoms more than 5 years; large/small joints, non-deforming
Pulmonary manifestations: chest pain, shortness of breath, cough
Cardiac manifestations (>50%): CHF, pericarditis, valvular heart disease, infective endocarditis
Renal manifestations: focal embolic glomerulonephritis from endocarditis or direct bacillus involvement
Neuro manifestations (10%): dementia/cognitive dysfunction
- Pathognomonic: Oculomasticatory Myorrhythmia (Slow rhythmic and synchronized contractions of ocular, facial, or other muscles)