Whipple disease
Whipple disease is a rare chronic infection with Tropheryma whipplei presenting with migratory arthralgia, diarrhea, steatorrhea, and weight loss, most often in middle-aged white men. Diagnosis is by small-bowel biopsy showing PAS-positive foamy macrophages, and treatment is intravenous ceftriaxone induction followed by long-term oral trimethoprim-sulfamethoxazole.
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What this article covers
- Overview
Whipple disease is a rare, chronic, multisystem infection caused by the gram-positive bacillus Tropheryma whipplei, an organism that establishes itself inside tissue macrophages and evades clearance.
- Epidemiology
Whipple disease is rare, with no established incidence or prevalence figure.
- Risk factors
Male sex: the disease occurs far more often in men than women.
- Pathophysiology
Tropheryma whipplei is a gram-positive, periodic acid-Schiff (PAS) positive actinomycete that infects tissue macrophages.
- Clinical features
Migratory large-joint arthralgia: the most common extraintestinal manifestation, affecting most patients; nonerosive and frequently precedes gastrointestinal symptoms by years.
- Differential diagnosis
Celiac disease: also causes diarrhea, weight loss, and malabsorption with iron-deficiency anemia, but tissue transglutaminase IgA antibody is positive and symptoms resolve on a gluten-free diet rather than requiring antibiotics.
- Diagnosis
Establishing test: the diagnosis is established by upper endoscopy with duodenal biopsy showing PAS-positive foamy macrophages in the lamina propria, since intestinal involvement is present in most…
- Management
First, confirm the diagnosis histologically or by PCR before starting a prolonged antibiotic course, since the standard regimen runs well over a year.
- Complications
Malabsorptive deficiencies: fat malabsorption produces vitamin D deficiency with hypocalcemia, vitamin K deficiency with an elevated prothrombin time and easy bruising, and vitamin B12 or folate deficiency with megaloblastic anemia.
- Prognosis
Whipple disease is fatal if untreated, progressing over years to malabsorptive wasting and, with CNS involvement, dementia and death.
- Prevention
Complete the full course of therapy: finishing the full 1 to 2 year maintenance course of TMP-SMX after ceftriaxone induction is the principal measure to prevent relapse.
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