Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases.

ABSTRACT:

Background

Fabry disease (FD; OMIM # 301500) is a rare, X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene. Deficiency or absence of alpha-galactosidase A (α-Gal A) enzyme activity leads to the accumulation of glycosphingolipids, specifically globotriaosylceramide (GL-3), in lysosomes leading to various symptoms and signs such as neuropathic pain, gastrointestinal manifestations, renal failure, hypertrophic cardiomyopathy and fibrosis, cardiac rhythm disturbances, heart failure, and stroke. This observational study aimed to describe the journey of patients to FD diagnosis (symptoms, comorbidities, related diagnoses, tests, procedures, and healthcare resource utilization) by assessing data from two US claims databases (Optum Clinformatics

SUBMITTER: Dumitriu A 

PROVIDER: S-EPMC12659568 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature