Amyoidotic breast nodule in hereditary transthyretin amyloidosis (hATTR): a case report

Abstract

[eng] Hereditary transthyretin amyloidosis (hATTR) is an autosomal dominant systemic amyloidosis due to point mutations in the TTR gene (chr18q12.1), resulting in misfolded proteins. Although more than 100 amyloidogenic TTR variants have been discovered [1] Val30Met (also known as NM_000371.3:c.148G > A p.(Val50Met)) is the most common. hATTR disease is characterized by extracellular deposition of fibrillar proteins that lead to tissue damage and functional compromise. Deposition of amyloid fibrils has been found in various organs and tissues of the body like in peripheral and autonomic nerves, heart, gastrointestinal (GI) tract, kidneys, eyes, and connective tissue of the transversal carpal ligament [2-4]. The clinical manifestations of amyloidosis are determined by the location of deposition.