53-year-old male truck driver with past medical history of benign prostatic hypertrophy and dyslipidemia, presented with diarrhea, weight loss, abdominal pain and fatigue for 4-5 months. He had multiple ER visits and hospitalizations for diarrhea, weight loss, dehydration, and abdominal pain in a four-month period. He reported fatigue, shortness of breath and dysphagia. No fevers or skin rash. He reported diffuse joint pains which he related to arthritis. He emigrated from Mexico in 1979, the last trip back to Mexico was approximately 7 years ago. He reported no recent travel or any exposure to tuberculosis. Physical exam showed no fever, normal vital signs, no peripheral lymphadenopathy, benign abdominal exam, no organomegaly, no neurological deficits, no joint swellings or skin rash. Lab data showed normal WBC count, mild microcytic anemia (ranging between 9 and 11 mg/dl), mildly elevated ESR, and normal LFTs. GI pathogen panel negative, endomysial antibody negative, tissue transglutaminase (tTG) IgA and IgG negative, antimitochondrial antibody negative, rheumatoid factor negative. CT abdomen pelvis showed low attenuation mesenteric lymphadenopathy, similar to that noted on CT abdomen done a year ago.
CT abdomen/pelvis done 1 year ago (after he was involved in a motor vehicle accident) showed enlarged low attenuation lymph nodes in the root of the mesentery and retroperitoneum with surrounding infiltrative changes (Figs. 1 and 2). Low attenuation mediastinal lymphadenopathy was also noted on chest CT. He underwent extensive workup following that for this lymphadenopathy. HIV, hepatitis B, hepatitis C, LDH, CEA, CA 19-9, peripheral flow cytometry was negative. PET-CT demonstrated enlarged low attenuation lymph nodes in the root of the mesentery and retroperitoneum without significant FDG uptake (Figs. 3 and 4). Subsequently, he underwent EGD and colonoscopy. Antral biopsies showed mild inflammation of the gastric mucosa and moderate duodenitis, well preserved villous architecture and no evidence of gluten enteropathy. H. pylori was negative. Colonoscopy did not show any significant finding. Bone marrow biopsy was inconclusive and showed possible low-frequency B cell lymphoproliferative disorder with monoclonal B-cell lymphocytes. Cytogenetics and the fluorescence in situ hybridization (FISH) panel were negative. Repeat PET scan done 3 months later, showed improved findings.
He was referred to Gastroenterology and underwent small bowel biopsy that showed extensive infiltration of lamina propria by foamy macrophages with resultant villous blunting, PAS positive diastase resistance within macrophages, negative GMS and acid-fast stain (Figs. 5 and 6). Blood PCR came positive for Tropheryma whipplei, confirming the diagnosis of Whipple's disease. He then had transesophageal echo which was unremarkable and spinal tap was negative for PCR Whipple disease. He was treated with ceftriaxone 2 g IV every 12 h for 2 weeks and then switched to sulfamethoxazole/trimethoprim 800 mg/160 mg twice daily for 1 year. A month later on follow-up outpatient visit, he was feeling much better, abdominal pain and diarrhea resolved, and he had gained more than 10 pounds. He still had some intermittent arthralgia.
Of interest, recently his brother also started reporting similar symptoms and is undergoing more work up.