Fabrys sygdom
Artikel
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).
Cardiac involvement in Fabry disease
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
Renal involvement in Fabry disease
Think Fabry, think renal involvement that may present early in life and could go undetected.
When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.1,2
Uddannelse
A heart for Fabry - Podcast
A podcast series designed by cardiologists, for cardiologists and other healthcare professionals.
Building Care webinar series
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.
