Fabrys sjukdom

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).

Think Fabry, think timely testing first.

Think Fabry, think regular profile-based assessments.

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 screening at-risk family members.¹

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.

Lyssna på experter inom kardiologi som delar med sig av sina kunskaper i podden KardiologKvarten