Transthyretin Familial Amyloid Polyneuropathy

📋Overview

Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a hereditary systemic amyloidosis caused by mutations in the transthyretin (TTR) gene. It leads to abnormal amyloid protein deposits primarily affecting peripheral nerves and various organs. The modern preferred term is hereditary transthyretin amyloidosis (hATTR amyloidosis), which encompasses polyneuropathy and cardiomyopathy manifestations.