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).

This accumulation occurs in a variety of cell types and can lead to debilitating symptoms such as neurological pain, angiokeratoma, hypohidrosis in childhood, in girls usually a few years later than in boys. With age, progressive damage to the vital organs develops in both sexes that leads to organ failure. End-stage kidney disease and life-threatening cardiovascular or cerebrovascular complications limit life expectancy.

Although the disease is X-linked, most women develop symptoms. Fabry disease is pan-ethnic. Newborn screenings report frequencies of 1 in 22,570 men for the classic phenotype and of 1 in 1,390 men for the late-onset phenotype.^1-3

Fabry disease is classified into two main phenotypes:^1,3,4

• Classic – absent of very low α-GAL A activity, multiple-organ systems involved, presentation generally begins in childhood

• Nonclassic – also referred to as late-onset, varying levels of residual α-GAL A activity and symptoms are more variable, most frequently beginning in adulthood

α-GAL A, α-galactosidase A; GLA, galactosidase alpha; GL-3, globotriaosylceramide.

Irreversible damage to multiple vital organs can cause renal, cardiovascular, and cerebrovascular complications if Fabry disease is left untreated.^1,3,6

Multisystemic signs and symptoms

Patients with Fabry disease experience an approximated 16-year reduction in lifespan for males and a 5- to 14-year reduction for females compared with the general population^14-16

Neem contact op