Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis

摘要

Purpose of reviewThese recommendations highlight recent experience in genetic counselling for the severe autosomal-dominant, late-onset transthyretin familial amyloid polyneuropathy (TTR-FAP) disease, and present a structured approach towards identification and monitoring of asymptomatic carriers of the mutated gene.