What is Fabry disease?
Fabry disease is a progressive genetic disorder and a life-threatening condition1.
It is caused by the deficiency, absence or incomplete functioning of an enzyme called alpha-galactosidase A (α-GalA). Over time, this can result in the accumulation of a substance called globotriaosylceramide (Gb3) in cells, causing progressive damage to tissues and major organs2.
It is a rare condition, with an incidence of approximately 1:40,000 in males, and 1:20,000 in females3,4.
Patient quality of life can be severely impaired by Fabry disease5.
Fabry disease presents with diverse, nonspecific, multisystemic symptoms that often overlap with those observed in other diseases and diagnosis is therefore difficult6.