Whipple's disease: A rare disease that can be spotted by many doctors

• Published in: European journal of internal medicine 2024-03, Vol.121, p.25-29
• Main Authors: Cappellini, Alessandro, Minerba, Paolo, Maimaris, Stiliano, Biagi, Federico
• Format: Article
• Language: English
• Subjects: Anti-Bacterial Agents - therapeutic use; Arthritis; Biopsy; Doxycycline; Humans; Physicians; Rare Diseases - drug therapy; Rheumatology; Trimethoprim-sulfamethoxazole; Tropheryma; Whipple Disease - diagnosis; Whipple Disease - drug therapy; Whipple Disease - pathology; Whipple's disease
• ISSN: 0953-6205; 1879-0828
• DOI: 10.1016/j.ejim.2023.12.009

•Whipple's disease is a very rare, multisystemic, chronic infection due to Tropheryma whipplei, an actinobacterium found in soil.•Diagnosis is challenging due to both its rarity and non-specific clinical features resembling rheumatological conditions.•A few years later, gastrointestinal symptoms appear helping to reach the correct diagnosis. Fatal central nervous system involvement can occur.•Diagnosis is based on PAS-positive macrophages in the duodenal lamina propria and positive PCR for Tropheryma whipplei in affected tissues..•Treatment has not yet been fully established, particularly in cases of recurrent disease Whipple's disease, an extremely rare, chronic infection caused by Tropheryma whipplei, an actinobacterium ubiquitously present in the environment, is a multisystemic condition that can affect several organs. Therefore, Whipple's disease should always be considered by physicians working across various branches of medicine, including internal medicine, rheumatology, infectious diseases, gastroenterology, haematology, and neurology. Initially, Whipple's disease is challenging to diagnose due to both its rarity and non-specific clinical features, almost indistinguishable from rheumatological conditions. A few years later, the onset of gastrointestinal symptoms increases the specificity of its clinical picture and helps in reaching the correct diagnosis. Diagnosis is typically made by finding PAS-positive macrophages in the lamina propria at duodenal biopsy. PCR for Tropheryma whipplei is nowadays also increasingly available, and represents an undeniable help in diagnosing this condition. However, it may also be misleading as false positives can occur. If not promptly recognized and treated, central nervous system involvement may develop, which can be fatal. The therapeutic gold standard has not yet been fully established, particularly in cases of recurrent disease, neurological involvement, and an immune reconstitution inflammatory syndrome that may arise following the initiation of antibiotic therapy.