S5030 When Common Symptoms Hide Rare Diseases: A Case of Prolonged Arthralgia and Chronic Diarrhea Unveiled as Whipple’s Disease

Introduction: Whipple's disease (WD) is a chronic infectious disease caused by a gram-positive bacterium, Tropheryma whipplei, a bacterium found ubiquitously in the environment. WD is an exceedingly rare condition with an overall incidence of about 1-3 in every 1 million people. It is predominant in middle-aged White men. We report a case of an African American man with chronic diarrhea after prolonged and inflammatory arthralgias with histologic evidence confirming Whipple's disease. Case Description/Methods: A 58-year-old man with seronegative rheumatoid arthritis was admitted for complaints of abdominal bloating and chronic diarrhea. He reported frequent watery diarrhea of 10 or more episodes and nocturnal awakenings without rectal bleeding or melena over the last 1-2 years with associated weight loss of about 80 lbs. Prior infectious work-up was overall negative. Tissue transglutaminase Ab, IgA/IgG was negative. Multiple computed tomography (CT) scan of the abdomen/pelvis resulted in nonspecific findings of enteritis. Patient underwent esophagogastroduodenoscopy and colonoscopy where 1 sessile duodenal polyp was observed. The terminal ileum and entire examined portion of the colon appeared normal. Biopsies later revealed duodenal mucosa with villous blunting and lamina propria expansion by numerous foamy macrophages. Scattered dilated lacteals and fat droplets and abundant positive periodic acid-Schiff (PAS) foamy macrophages were consistent with Whipple’s disease. He underwent lumbar puncture and cerebrospinal fluid studies were negative for central nervous system involvement including negative T. whipplei cerebrospinal fluid polymerase chain reaction (PCR). The T. whipplei blood PCR was positive. He was treated with intravenous ceftriaxone 2 g once daily for 14 days with improvement of his symptoms. He was discharged with Doxycycline 100 mg twice daily and hydroxychloroquine 200 mg 3 times daily for maintenance therapy for 12 months. Discussion: WD is a rare, chronic multisystem infection. Pathogenesis interferes with macrophages resulting in dysfunction of host cell degradation. Prodromal stage is characterized by migratory arthralgias involving the large peripheral joints. Systemic phase has symptoms of diarrhea, abdominal pain, weight loss, hepatosplenomegaly, and anemia. Neurologic involvement may occur during or following the systemic presentation. Although a rare condition, Whipple's disease should be suspected with prolonged arthralgias and gastrointestinal involvement. Early recognition of WD is crucial to ensure prompt treatment and proper surveillance and follow-up care.