Familial amyloid polyneuropathy.

Abstract

Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatment's research. Access to TTR gene sequencing permit diagnosis and first reports of the disease in nonendemic countries (EU countries, United States, China, India). Most studies showed a more severe natural history of the neuropathy in nonendemic countries. First European consensus for management has been established. New long-term results allow selection of best candidates for liver transplantation based on phenotype and cardiac involvement. Multimodal evaluation of small fiber neuropathy and resonance magnetic neurography are under development. New results are available for long-term effect of tafamidis in late-onset patients. TTR gene silencing drugs are subject to phase 3 clinical trials. New methods for the evaluation of the disease are being developed. The TTR gene silencing strategy will be available by the end of 2017.