Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.

ABSTRACT:

Objective

Amyloidosis due to the transthyretin Ser77Tyr mutation (ATTRS77Y) is a rare autosomal-dominant disorder, characterized by carpal-tunnel syndrome, poly- and autonomic-neuropathy, and cardiomyopathy. However, related symptoms and signs are often nonspecific and confirmatory tests are required. We describe the age and frequency of early symptoms and diagnostic features among individuals of Jewish Yemenite descent in Israel.

Methods

Records of mutation carriers were retrospectively reviewed. ATTRS77Y diagnosis was defined by the presence of amyloid in tissue and/or amyloid-related cardiomyopathy.

Results

We identified the Ser77Tyr mutation at the heterozygous state in 19 amyloidosis patients (mean age at diagnosis: 62 ± 5.7 years, range 49-70) and 30 amyloid-neg

SUBMITTER: Dori A 

PROVIDER: S-EPMC10109316 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature