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What causes Fabry disease?

Fabry disease is a genetic disorder caused by alterations to the GLA gene.4 This gene is important because it produces an enzyme called alpha-galactosidase A, or alpha-GAL, which helps remove a fatty substance called globotriaosylceramide (GL-3) from blood vessels and organs.6,8 In Fabry disease, changes to the GLA gene can sometimes cause the body to make less alpha-GAL, and that can lead to a buildup of GL-3.

Who does Fabry disease affect?

Fabry disease can impact individuals of any gender, race, background, or age. Classic Fabry disease begins in childhood and it tends to worsen in adults. Previously, it was believed that only males could develop the disease and females could be only carriers who remained asymptomatic.

What are the symptoms of Fabry disease?

Fabry disease symptoms can be very different from person to person. Some people may have only one symptom, while others may have many. Symptoms may be mild or more severe, and can also change as time goes on.

How is Fabry disease diagnosed?

Fabry disease is typically diagnosed with a simple test, using a blood or saliva sample. Alpha-GAL enzyme levels can be tested with a blood sample. Alterations in the GLA gene can be tested with either blood or saliva samples. Males can be diagnosed with enzyme.