Experience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports.

Abstract

More than approximately 120 transthyretin mutations are known. Their clinical presentation is heterogeneous, as the course of disease onset depends on genetic variation and level of penetrance. They are little known in Ecuador, and some of the reported cases suggest-given analysis of family trees-that they come from a province that is possibly considered endemic. The main objective of this study is to perform a descriptive observational analysis on the presentation of transthyretin amyloidosis in families carrying the p.Ser43Asn gene of the identified index case.