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
Think Fabry, think renal involvement that may present early in life and could go undetected.
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.1,2
A podcast series designed by cardiologists, for cardiologists and other healthcare professionals.
The Building Care webinar series is designed to deepen your understanding of the critical role a patient-centered, multidisciplinary approach plays in managing Fabry disease.
Management in Patients with Fabry Disease.
Management in Patients with Fabry Disease.
accelRare® is a pre-diagnosis and differential diagnosis tool. Developed, tested and validated in collaboration with 67 European rare disease specialists across multiple disciplines.
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