The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

ABSTRACT:

Background

Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked, inherited genetic disease caused by a functional deficiency of lysosomal α-galactosidase, leading to the accumulation of glycosphingolipids in virtually all of the body's cell types and fluids. Patients with rare genetic diseases and non-specific symptoms often experience substantial diagnostic delays, which can negatively impact the prompt initiation of treatment. If FD is not treated specifically, end organ damage (such as chronic renal failure, hypertrophic cardiomyopathy with arrhythmia, and strokes) impairs quality of life and reduces life expectancy.

Patients and methods

For 83 consecutive patients with FD referred to the Russian reference center for lysosomal storage diseases, family trees w

SUBMITTER: Moiseev S 

PROVIDER: S-EPMC9498688 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature