Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation

Abstract

Hereditary transthyretin-mediated amyloidosis (hATTR) is a rare, systemic and progressive autosomal dominant disease caused by mutations in the TTR gene. Systemic deposition of amyloidogenic mutant transthyretin results in organ dysfunction [1]. While the Val30Met has been considered to be the most common mutation there have been more than 120 amyloidogenic TTR mutations reported worldwide [2]. Phenotypic expression of hATTR is heterogeneous and influenced by TTR genotype, geographic location and other genetic and environmental factors [3]. The heterogeneity of this rare disease makes its diagnosis challenging.