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 (Gb–3) 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.

What are the signs & symptoms of Fabry disease?

Play Video
Watch a brief video about Fabry disease.
Fabry disease diagnosis is often delayed due to the lack of specificity in symptoms. Average onset of diagnosis is 13.7 years in men and 16.3 years in women
Fabry disease hereditary and inheritance infographic. Learn about the genetic factors.
View the signs and symptoms of Fabry disease and their multi-systemic effects
If you suspect you have Fabry Disease print this out to discuss with your doctor.
Fabry disease hereditary and inheritance infographic. Learn about the genetic factors.
Fabry disease is managed through symptom control and effective therapies
icon-brochure-ped
This leaflet aims to answer some of the questions you may have about the causes, inheritance and treatment of Fabry disease.