In patients with unexplained hypertrophic cardiomyopathy (HCM), consider testing with an HCM panel that includes the GLA gene.
Though early diagnosis and treatment of Fabry disease are key to reducing the risk of irreversible complications, delays are still prevalent.1,3,4
Patients with Fabry disease must often visit multiple specialists to obtain a correct diagnosis5
Some patients may not obtain a correct Fabry disease diagnosis for more than 10 years3
*ERT, enzyme replacement therapy.
Fabry disease
Fabry disease is an X-linked lysosomal storage disease due to a defect in the gene encoding the lysosomal enzyme alpha-galactosidase A (α-Gal A), causing progressive cellular accumulation of the substrate globotriaosylceramide (GL-3) and globo-triaosylsphingosine (lyso-GL-3).
Cardiovascular disease is the leading cause of death in Fabry disease patients.1 Undiagnosed and untreated Fabry disease leads to progressive, irreversible, life-threatening heart injury.2,3
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