How is Fabry disease diagnosed?

Many patients with Fabry disease are initially misdiagnosed as the clinical course is highly variable, with a broad range of possible differential diagnoses

Although awareness of Fabry disease is growing amongst medical professionals, on average, the mean time between onset of symptoms and diagnosis is 13.7 years for adult males and 16.3 years for adult females.

Fabry Disease is diagnosed by a genetic analysis of the GLA gene.

What are the genetic factors?

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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
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This leaflet aims to answer some of the questions you may have about the causes, inheritance and treatment of Fabry disease.