2018 Volume 35 Issue 3 Pages 174-178
Amyloidosis is a group of disorders characterized by extracellular accumulation of amyloid fibrils derived from various proteins. In systemic amyloidosis, several types, such as hereditary transthyretin (ATTRm) amyloidosis (transthyretin familial amyloid polyneuropathy [ATTR–FAP]), wild–type transthyretin amyloidosis, and amyloid light–chain (AL) amyloidosis, exhibit neurological dysfunction. ATTR–FAP is a common cause of hereditary polyneuropathy worldwide. Thus far, more than 140 mutations in the TTR gene have been identified, and several genotype–phenotype correlations have been reported. For ATTR–FAP, several therapies have been developed in the recent decade. Liver transplantation (LT) reportedly halts the progression of clinical manifestations of ATTR–FAP. In addition to LT, novel disease–modifying drugs for ATTR–FAP, stabilizers of tetrameric TTR, have been developed. Tafamidis can delay disease progression by stabilizing the TTR tetrameric form. Further, gene–silencing therapies, such as small interfering RNA therapy and antisense oligonucleotide therapy, are undergoing clinical trials. Early diagnosis and timely treatment are becoming increasingly important for the management of ATTR–FAP.
