Primary amyloidosis presenting with hematochezia and colon ulcers

Abstract

Amyloidosis is characterized by the deposition of monoclonal immunoglobulin light chains in vital organs. Although involvement of the GI tract is relatively common in all systemic types of amyloidosis, it rarely presents with GI symptoms. We describe a case of primary amyloidosis presenting with hematochezia and diagnosed by biopsies obtained from discrete colon ulcers. A 43 year-old Central American male was admitted with progressive dyspnea on exertion. He had an 18 month history of intermittent hemoptysis associated with a dry cough, night sweats and 15 pound weight loss. For two years he had increasing intermittent painless hematochezia. His physical examination was remarkable for decreased breath sounds at the right lung base with dullness to percussion and his stool was heme positive. A chest x-ray showed a large right pleural effusion and cardiomegaly. Transthoracic echocardiogram revealed biventricular hypertrophy with hyperechogenicity/speckling of the myocardium and elevated pulmonary artery pressure. Bronchoscopy showed an enlarged epiglottis, thickened vocal cords, and multiple nodular lesions throughout the bronchial tree. Brushings from the bronchial tree were non-diagnostic. A flexible sigmoidoscopy was requested for rectal biopsies. Two easily friable ulcers with erythematous edges were seen in the sigmoid and the descending colon. Biopsies of the ulcer edges revealed deposition of proteinaceous material in the submucosa and muscularis mucosa consistent with amyloidosis. This was confirmed by Congo red staining of the material which also showed apple green birefringence under polarized light.