Fabrys sygdom
Artikel
When to treat
Think Fabry, think early treatment to help slow or prevent life-threatening disease progression.1,2
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.
