ATTR Variant Amyloidosis in Patients with Dysphagia

Abstract

Amyloidosis is a rare disease characterized by the accumulation of misfolded extracellular proteins in various organs. Over 30 precursor proteins have been identified that can form amyloid deposits in different parts of the body. The most frequently encountered amyloidosis variant is the immunoglobulin light chain amyloid (AL). In this report, we present a unique case of a patient with biopsy-confirmed hypopharyngeal amyloidosis caused by transthyretin (ATTR). While hypopharyngeal involvement has been hypothesized in the past, conclusive reports are lacking, although rare instances of hypopharyngeal involvement by the AL variant of amyloidosis have been reported. We present the first case of biopsy-proven ATTR systemic amyloidosis with cardiomyopathy and hypopharyngeal involvement.