2563 When Considering a Broad Differential to Diarrhea and Joint Pain: Don't Forget About Whipple's Disease

Abstract

INTRODUCTION: Whipple's disease (WD) is a rare systemic disease caused by bacteria Tropheryma whipplei and commonly overlooked as a diagnosis. CASE DESCRIPTION/METHODS: A 42-year-old man presented to the ED for intolerance chronic of diarrhea, lower extremity swelling, paresthesia, migratory monoarticular arthralgia, and weakness. Over 2 years he lost 60-pounds and had early satiety, intermittent dysphagia, and decreased concentration. Physical exam was remarkable for a scaphoid abdomen with mild diffuse tenderness, knee joint tenderness, lower extremity strength 4/5. Labs abnormalities: hemoglobin 6.5 g/dL, albumin 1.9, 25-OH vitamin D 5 ng/mL (nml > 30 ng/mL), CRP 25.4 mg/L. Bilateral lower extremity ultrasound showed a blood clot in the right deep femoral vein and bilateral baker's cysts. Colonoscopy and EGD examinations were unrevealing. Histologic exam of duodenum biopsies showed dilated fat vacuoles and a positive periodic acid-Schiff (PAS) stain confirming Whipple's Disease. Cerebrospinal fluid was negative and cognitive changes improved with electrolyte replacement. He was treated with a 14-day course of intravenous ceftriaxone followed by Bactrim doubled-strength twice a day. After intravenous antibiotics, the diarrhea resolved and he regained weight. DISCUSSION: WD most commonly affects men (86%), farmers (35%), and those with occupational exposure to soil or animals (66%). Transmission is thought to be fecal-oral since sewage workers are more prevalent carriers. Common symptoms are weight loss, arthralgia, diarrhea, and abdominal pain. Arthralgia is the sentinel symptom preceding others by ∼6 years. Less common include skin hyperpigmentation, endocarditis, and CNS symptoms (severe disease). Three diagnostic tests exist: PAS-staining, PCR of the 16S ribosomal RNA of T. whipplei, and immunohistochemistry (IHC) via rabbit anti-T. whippleiantibodies. Diagnostic criteria include: 1) small intestine biopsies positive on PAS stain for bacillus material in the lamina or 2 positive tests from other origins. Initial testing is done with EGD and duodenal biopsies submitted for PAS staining and PCR testing ± IHC. If extraintestinal symptoms, PAS staining and PCR testing ± IHC on tissue or fluid samples. CSF should be tested by PCR in all cases. After diagnosis, treatment starts with a 2-week course of IV of antibiotics (4 weeks if CNS infection or endocarditis) followed by one year of Bactrim. Relapse occurs in 17-35%, years later.