NPJ Cardiovasc Health. 2025 Aug 1;2(1):40. doi: 10.1038/s44325-025-00058-6.
ABSTRACT
Fabry disease (FD, OMIM #301500) is a lysosomal disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a functional deficiency in the enzyme α-galactosidase A. Fabry cardiomyopathy is now the most common cause of mortality in patients with FD. Large-scale metabolic and genetic screening studies have revealed FD to be more prevalent than previously thought and the later-onset variant form of FD represents an unrecognized health burden. Genetic testing is critical for the diagnosis of FD and echocardiography with strain imaging and cardiac magnetic resonance imaging using late-enhancement and T1 mapping are important imaging tools. Current therapies for FD are enzyme replacement therapy and, in patients with an amenable GLA pathogenic variant, pharmacological chaperone therapy, which can prevent FD progression, while gene therapy and the use of substrate reduction therapy represent promising novel therapies.
PMID:41776073 | PMC:PMC12912448 | DOI:10.1038/s44325-025-00058-6