Whipple disease: A great mimicker

Abstract

Whipple disease is a rare systemic infection caused by the bacterium Tropheryma whipelii, and often presents a diagnostic challenge to both clinicians and pathologists. The classic symptoms are those of diarrhoea, malabsorption, and weight loss, reflecting infection of the small intestine. Involvement of the colon is uncommon. A range of systemic symptoms, many non-specific, such as arthralgia, fatigue, weakness, fever and anaemia may also occur. Presentation with systemic symptoms without intestinal manifestation may be far more common than previously appreciated, and the diagnosis may be missed, resulting in a protracted and life threatening course. We report a case of Whipple disease in a 47-year-old man with a prolonged extra-GIT presentation, resulting in misdiagnosis and mistreatment with immunosuppression. The diagnosis was finally reached after he developed mild diarrhoea, prompting colonoscopy and endoscopy. We discuss the biopsy findings in both colonic and duodenal biopsies, and highlight the diagnostic difficulties and recent advances in our understanding of this disease.