Update on Amyloid Polyneuropathy and Treatment

The purpose of this review is to summarize currently available and developing diagnostic and treatment options for hereditary transthyretin amyloid polyneuropathy. Transthyretin amyloidosis (ATTR) predominantly manifests with cardiomyopathy and/or peripheral neuropathy, but amyloid deposits may be found in other organs or tissues.

Currently available treatments include transthyretin gene silencers (for hereditary ATTR peripheral neuropathy only) and transthyretin stabilizers (tafamidis for ATTR cardiomyopathy in the USA, and for both hereditary ATTR peripheral neuropathy and ATTR cardiomyopathy in Europe, Japan, Brazil, and some other countries), and liver transplantation. Gene silencers stop the progression of hereditary ATTR peripheral neuropathy in most patients, and transthyretin stabilizers reduce hospitalizations and mortality in patients with ATTR cardiomyopathy. The use of liver transplantation for ATTR has declined with the availability of more effective therapies, and shortage of available allografts. On the horizon are new treatments already in clinical trials including new gene silencers and gene editing agents, new transthyretin stabilizers, and amyloid removal treatments.

Recently approved treatments for ATTR have changed its natural history, and additional medications may get approved in the near future. Early diagnosis is still essential to improve treatment outcomes. New management strategies may include combinations of gene silencers, transthyretin stabilizers, gene editing, and amyloid removal agents, but the cost may become the limiting factor.