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A 61-year-old white man with seronegative rheumatoid arthritis presented with hand and wrist pain. Over 2 years, he was prescribed various therapies including prednisone, methotrexate, tumor necrosis factor inhibitors, abatacept, and anakinra; he experienced intermittent improvement in his joint pain but had persistently elevated levels of inflammatory markers. He continued to experience asymmetric small- and large-joint polyarthralgias and later developed intermittent fevers (temperatures up to 38.3°C [101°F]) along with a 50-lb (22.7-kg) unintentional weight loss over the course of a few months.
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A. Begin antimicrobial therapy
The keys to the correct diagnosis are the endoscopic and histologic abnormalities. The endoscopic duodenal image (Figure, panel A) highlights the whitish plaques characteristic of Whipple disease. Biopsies revealed small-bowel mucosa with foamy macrophages (Figure, panel B) and periodic acid–Schiff–positive macrophages in the lamina propria (Figure, panel C), all consistent with Whipple disease. Results of polymerase chain reaction assay for Tropheryma whipplei were also positive. Intravenous immunoglobulin therapy (choice B) is appropriate for common variable immune deficiency, which manifests as chronic, opportunistic infections and absence of plasma cells on small bowel biopsy, neither of which occurred in this patient. While the patient manifested multiple symptoms, genetic evaluation for hematologic malignancy (choice C) is incorrect given no evidence of malignancy on laboratory, imaging, and tissue evaluations. Referral to a nutritionist for education on a gluten-free diet (choice D) is incorrect given the absence of positive results from celiac serologic testing (which has 99% sensitivity) and absence of typical changes on biopsy such as villous blunting and intraepithelial lymphocytosis.1
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Corresponding Author: Arjun R. Sondhi, MD, Division of Gastroenterology, University of Michigan, 1500 E Medical Center Dr, Ann Arbor, MI 48109 (firstname.lastname@example.org).
Published Online: January 6, 2020. doi:10.1001/jama.2019.18724
Conflict of Interest Disclosures: None reported.
Additional Contributions: We thank the patient for providing permission to share his information.
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