Chronic diarrhea as the initial clinical manifestation of light-chain amyloidosis with cardiac involvement despite negative duodenal and rectal biopsies.

Abstract

Early and accurate diagnosis and a prompt initiation of treatment are critical for the prognosis of light-chain amyloidosis. The present article describes a case involving a 62-year-old patient who experienced unexplained, chronic diarrhea with negative duodenal and rectal biopsies. Serum immunofixation, a free light-chain assay, electrocardiography and echocardiography were performed after the patient developed syncope. The results of these diagnostic investigations showed characteristic signs of systemic amyloidosis. Cardiac and bone marrow biopsies confirmed the diagnosis of systemic light-chain amyloidosis. The chronic diarrhea was found to be due to an autonomic neuropathy of the enteric nervous system.