Liver transplantation in transthyretin amyloidosis: Issues and challenges
Andreia Carvalho, Ana Rocha, Luísa Lobato – 6 December 2014 – Hereditary transthyretin amyloidosis (ATTR) is a rare worldwide autosomal dominant disease caused by the systemic deposition of an amyloidogenic variant of transthyretin (TTR), which is usually derived from a single amino acid substitution in the TTR gene. More than 100 mutations have been described, with V30M being the most prevalent. Each variant has a different involvement, although peripheral neuropathy and cardiomyopathy are the most common.