Long-term Negative Psychological Impact of Presymptomatic Testing on Familial Amyloid Polyneuropathy

Abstract

Familial Amyloid Polyneuropathy (FAP) TTR V30M, or Transthyretin (TTR) Amyloid Polyneuropathy, is a progressive sensorimotor and autonomic neuropathy of adulthood onset (Adams, 2008). FAP is transmitted as an autosomal dominant trait and is caused by mutations in the TTR gene (18q12.1). Death occurs within a mean interval of 10.8 years after the onset of inaugural symptoms and may occur suddenly or may be secondary to infections or cachexia (Coelho et al., 2012). In addition to liver transplant, delaying Clínica y Salud (2019) 30(2) 91-97