Early diagnosis is very important

Many patients with Fabry disease are misdiagnosed at first, because the symptoms and course of the disease vary from person to person, and a broad range of different diseases could be responsible for these.

Although awareness of Fabry disease is growing among medical professionals, the time between onset of symptoms and diagnosis is, on average, 14.7 years for adult males and 15.1 years for adult females.

It is important that Fabry disease is diagnosed as soon as possible, because Fabry disease progresses over time to cause increased damage to different parts of the body.

How does someone find out if they have Fabry disease?

People are usually tested for Fabry disease either because they have a family member with the disease or because they are showing symptoms that suggest they may have Fabry disease.

There are tests that doctors can do to find out if someone has Fabry disease. These tests are different for men and women.

The blood test for the α-galactosidase A enzyme is not always useful in women, because some women can have Fabry disease but have normal levels of the enzyme.

It is very important to get tested if you have a family member with Fabry disease. You may not even have the faulty gene, but if you do, getting an early diagnosis and potentially early treatment may help you and your family.