Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study.

ABSTRACT:

Context

Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute to the observed morbidity.

Objective

To investigate the function of the endocrine system in patients with FD.

Design

We conducted an observational prospective study from 2017 to 2020.

Setting and patients

We included 77 patients with genetically confirmed FD (27 men, 20/27 Classic, 7/26 Late Onset phenotype, 50 women, 41/50 and 9/50 respectively), who are systematically followed by our reference centre.

Results

36/77 (46.8%) patients had VitD deficiency (25(0H)

SUBMITTER: Bothou C 

PROVIDER: S-EPMC8888367 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature