S2230 Atypical Endoscopic Appearance of Duodenal Mucosa in Whipple’s Disease: An Incidental Finding in an African American Patient

Abstract

Introduction: Whipple’s disease (WD) is an extremely rare disorder of European white males with an annual incidence reported as less than one case per million. It is a chronic infectious multisystem disorder caused by the bacterium Tropheryma whipplei. Esophagogastroduodenoscopy (EGD) is the gold standard for diagnosis which typically reveals alternating yellow shaggy and eroded erythematous small bowel mucosa. We report a biopsy-proven case of WD in an African American male with atypical endoscopic appearance of the duodenum revealing diffusely dispersed prominent white spots, swollen folds and mucosal nodularity. Case Description/Methods: A 45-year-old male presented with a 6-month history of watery diarrhea, anorexia, unintentional weight loss and exertional dyspnea. He had a history of seizures, recurrent pleural effusion of unknown etiology, vitamin D deficiency and iron deficiency anemia. Physical exam was remarkable for an underweight patient with pale conjunctivae, mild diffuse abdominal tenderness and decreased right sided breath sounds. Vital signs were stable. Patient was in no acute distress. Labs include Hb 10 mg/dL, albumin 2.1 g/dL, vitamin D 13.6 ng/mL, zinc 44 mcg/dL, ESR 45 mm and CRP 107 mg/dL. Stool was negative for ova/parasite, bacterial culture, C.difficile and AFB. Workup for celiac disease and neuroendocrine tumors also reported negative. CT imaging revealed gastric antral wall thickening, abdominal/pelvic ascites and right pleural effusion. Given these non-specific findings, malignancy workup was warranted. EGD revealed an unusual gross appearance of the second portion of duodenum with diffusely dispersed prominent white spots, swollen folds and mucosal nodularity (Fig. 1-a). Biopsy was consistent with WD (Fig. 1-b,c). Colonic and pleural biopsies were negative for malignancy. The patient showed significant clinical response to induction therapy with ceftriaxone followed by maintenance phase with TMP-SMX. Follow up is scheduled to assess endoscopic response to antibiotic therapy. Discussion: WD is a challenging diagnosis due to a constellation of symptoms that mimic other disorders. Whitish discoloration with mucosal nodularity is a rare but more specific endoscopic finding for WD, as reported in our case. Biopsy is required to confirm the diagnosis. This case is reported to draw gastroenterologists’ attention towards atypical endoscopic findings of WD. Early recognition of this debilitating and potentially fatal illness is the key before commencement of prolonged antibiotic therapy.Figure 1.: A. CT Chest with Pneumomediastinum B. Upper Endoscopy With Erythematous Posterior Oropharynx and an Extrinsic, Longitudinal Bulge in the Proximal Esophagus C. Intraoperative Photograph During Thoracotomy.