Whipple disease

Whipple disease (also known as intestinal lipodystrophy or Whipple's disease) is a rare, chronic, systemic infectious disease caused by the bacterium Tropheryma whipplei. The disease primarily affects the small intestine but can involve virtually any organ system, including the joints, cardiovascular system, central nervous system, eyes, and skin. It predominantly affects middle-aged Caucasian men, though it can occur in individuals of any background. The hallmark clinical features include chronic diarrhea, weight loss, malabsorption, and migratory arthralgias or arthritis, which often precede gastrointestinal symptoms by years. Patients may also develop fever, lymphadenopathy, hyperpigmentation of the skin, and cardiac manifestations such as culture-negative endocarditis. Neurological involvement, which can occur in up to 40% of cases, may present with cognitive changes, ophthalmoplegia, oculomasticatory myorhythmia (a pathognomonic sign), and hypothalamic dysfunction. If left untreated, the disease is progressive and fatal. Diagnosis is typically confirmed by small bowel biopsy showing periodic acid-Schiff (PAS)-positive macrophages in the lamina propria, and can be supported by PCR detection of T. whipplei DNA. Treatment involves prolonged antibiotic therapy, typically initiated with intravenous ceftriaxone for two weeks followed by oral trimethoprim-sulfamethoxazole for at least one year. With appropriate antibiotic treatment, the prognosis is generally good, though relapses can occur, particularly involving the central nervous system. Long-term follow-up is essential to monitor for disease recurrence.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Whipple disease