Familial amyloid polyneuropathy: new developments in genetics and treatment

Abstract

Familial amyloid polyneuropathy is an hereditary amyloidosis related to several different genetic errors. It usually presents as a severe peripheral neuropathy. The protein most frequently involved in the disease is transthyretin, a serum transport protein synthesized primarily in the liver. Variable penetrance and variable clinical expression are widely described but the factors that influence such variability are largely unknown. Liver transplantation has been suggested as an effective treatment for this fatal condition. More than 146 patients have undergone this procedure and progression of the disease is halted after surgery. Therefore, it is thought that liver transplantation is an effective treatment for severe forms of familial amyloid polyneuropathy.