Symptomatic Simultaneous Esophageal, Duodenal, Colonic and Anal Involvement by Amyloidosis

Abstract

Amyloidosis is a rare progressive disease characterized by abnormal protein deposits in one or more organs. Gastrointestinal (GI) amyloidosis is usually asymptomatic, but may present as malabsorption, pseudo-obstruction, and GI bleeding. We report a patient who uncommonly presented with a variety of GI symptoms related to amyloidosis involving esophagus, stomach, duodenum, colon and anus. Case: A 51-year-old man with multiple myeloma (MM) presented with melena and a Hct of 14. Upper endoscopy showed circumferential erythematous, friable mucosa with diffuse oozing in the distal bulb and second portion of duodenum. Hemostasis was achieved by injection of epinephrine. He also had perianal discomfort and bleeding, exam revealed a large verrucous plaque on the left side of the anus extending to perineum. Patient was treated with high doses of PPI. 10 days later the patient returned to hospital complaining of intermittent melena and recent bright red blood per rectum. Repeat endoscopy showed an antral ulcer, inflamed, friable mucosa in duodenum with narrowing, and no active bleeding. Colonoscopy showed erythema, edema and friable mucosa with oozing in the sigmoid colon. All sites including the anal lesion were biopsied. Histopathology demonstrated squamous hyperplasia with dermal amyloid deposits in the anal lesion. The gastric, duodenal and colon biopsies also showed amyloid deposit. Within 2 weeks he developed rapidly progressive dysphagia, inability to maintain oral intake and weight loss. Endoscopy showed no inflammation, ulcer or stricture formation in esophagus. Esophageal biopsy showed amyloid deposit in the mucosa. Speech was normal and he was able to initiate a swallow. The patient underwent a jejunostomy tube placement for feeding. Discussion: This case demonstrates rare symptomatic involvement of almost the entire GI tract with amyloidosis causing upper and lower GI bleeding, dysphagia and a perianal lesion masquerading as squamous cell carcinoma. Esophageal involvement with rapid onset of severe dysphagia requiring J-tube placement is very unusual and represents a motor disorder of the esophagus. Condylomatous cutaneous amyloidosis has been reported, but most of the time well after the diagnosis of amyloidosis has been made. Our case demonstrates the importance of considering GI amyloidosis in the differential diagnosis of a variety of GI symptoms.