S42 Familial amyloid polyneuropathy (FAP): All aspects of the disease from diagnosis to treatment: Disease management

Abstract

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin ( TTR ) gene. More than 100 different mutations of the transthyretin gene were identified worldwide, but still the first described Val30Met is the most common one. The mutant amyloidogenic transthyretin protein causes systemic accumulation of amyloid fibrils that results in organ dysfunction and death. TTR-associated FAP is a progressive and fatal disease if left untreated and should be considered in the differential diagnosis of any patient with a progressive polyneuropathy, especially with an accompanying autonomic involvement. Several medications are under investigation for TTR-FAP (TTR-stabilizing agents, Tafamidis and Difluniasal; antisense oligonucleotides, that suppresses TTR mRNA expression; RNA interference therapeutics designed to suppress the expression of TTR protein); but liver transplantation, which removes the primary source of abnormal TTR, remains the gold standard for therapy. Symptomatic management is primarily focused on reducing the impact of neuropathic pain and improving gastrointestinal and other autonomic symptoms. A comprehensive and multidisciplinary approach is required to manage TTR-FAP.