Hereditary transthyretin amyloidosis

Overview

Hereditary transthyretin amyloidosis is an autosomal dominant disorder caused by pathogenic variants in TTR that destabilize transthyretin and promote amyloid deposition. It commonly causes progressive peripheral neuropathy, autonomic dysfunction, cardiomyopathy, and gastrointestinal symptoms, with marked phenotypic variability by variant and ancestry. It is rare, and both gene-silencing and transthyretin-stabilizing therapies are documented treatment options.

Available Treatments (1)

Classification & Codes