Treatment of Hereditary Transthyretin-Mediated Amyloidosis in Adult Patients

Hereditary transthyretin-mediated amyloidosis (hATTR) is a rare, progressive, and fatal autosomal dominant genetic disease in which a variant in the transthyretin gene results in the production of misfolded insoluble transthyretin protein which accumulates as amyloid fibrils (i.e., amyloidosis) in multiple organs of the body such as the liver, nerves, heart, and kidneys causing disruption of organ tissue structure and function. Historically, hATTR was classified into familial amyloid polyneuropathy or familial amyloid cardiomyopathy. However, it is now recognized that most patients manifest signs and symptoms of both syndromes over the course of their disease and therefore the current clinical approach treats familial amyloid polyneuropathy and familial amyloid cardiomyopathy as 1 hereditary disease (polyneuropathy of hATTR) with a spectrum of clinical manifestations.