A Comprehensive Study of Whipple Disease: Diagnostic Clues from Unusual Presentations
Christina Arnold, Roger Moreira, Elizabeth Montgomery. Johns Hopkins Hospital, Baltimore; Columbia University College of Physicians and Surgeons, New York City
Background: Although Whipple Disease was described over a century ago, T. whipplei remains difficult to culture and to eradicate. Timely diagnosis of this sometimes lethal disease is critical. We report cases with unusual clinical presentations and unusually subtle histology.
Design: All cases of Whipple Disease diagnosed since the introduction of the Whipple IHC (2002) were identified and the clinicopathologic information was obtained.
Results: Twenty one lesions were identified from 14 patients: the age ranged from 39 to 69 years (mean, median 53 years) and the study included 10 males (71%). Lesions involved small intestine (13, 61%), brain (2, 10%), heart valves (4, 19%), breast (1, 5%), and retroperitoneal soft tissues (1, 5%). Patients presented with site-specific complaints. Most small bowel biopsies (10/13) were from newly diagnosed patients and showed the classic features of Whipple Disease: dilated lacteals and lamina propria expansion by foamy macrophages containing PAS+/IHC+ granules. Three cases showed treatment effect: only occasional macrophages minimally expanding the lamina propria and rare PAS+/IHC+ material. Foamy macrophages containing PAS+/IHC+ material were also identified in the breast, cardiac, and brain biopsies. Follow-up data were available in 7 (50%) cases, and persistent disease noted in 6 (86%) cases. The latency period between onset of symptoms and a diagnosis of Whipple Disease ranged from a few to greater than 10 years. Alternative submitted clinical impressions included celiac disease, Crohn vasculitis, sepsis, inflammatory process, and liposarcoma. Limited treatment data featured IV ceftriaxone, compliance issues, and adverse side-effects. One patient died (7%), but complete follow-up information was unavailable.
Conclusions: We report unusual clinical presentations of Whipple Disease, including presentation as a breast and retroperitoneal masses. We also report cases of Whipple Disease with unusual histology, namely cases with treatment effect. Despite great advances over the past 100 years, Whipple Disease remains a great mimicker and is often misdiagnosed. In our series, the latency period between onset of symptoms and diagnosis was at least several years and submitted clinical impressions included celiac disease, Crohn vasculitis, sepsis, inflammatory process, and liposarcoma. Awareness of unusual presentations and subtle histology together with the appropriate utilization of the Whipple IHC is essential for recognition of this sometimes lethal condition.
Wednesday, March 21, 2012 1:00 PM
Poster Session VI # 252, Wednesday Afternoon