Transthyretin Amyloid Polyneuropathy

ATTR with polyneuropathy (ATTR-PN) occurs when amyloid predominantly affects the peripheral and autonomic nerves. V30M (substitution of methionine for valine at position 30) is the most common mutation associated with this disease, which is also known as familial amyloid polyneuropathy (FAP). The age of onset is typically in the third or fourth decade of life or later, depending on the mutation and the patient’s ethnic background. The main feature of ATTR-PN is progressive sensorimotor and autonomic neuropathy. Although penetrance varies greatly among geographic and ethnic foci, the outcome of ATTR-PN is invariably progressive and fatal. The only demonstrated disease-modifying therapy for ATTR-PN is orthotopic liver transplantation.