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