Fabry Disease

What is Fabry Disease?

Fabry syndrome occurs mainly in males, and is the result of mutations in the genes that produce the enzyme alpha-galactosidase A.

The disease is considered a multi-system, progressive disorder and a lysosomal storage disease.

What gene changes cause Fabry Disease?

The syndrome is the result of a defective GLA gene, responsible for producing the enzyme alpha-galactosidase A.

This enzyme is responsible for breaking down the fat GB3/GL-3. Without this enzyme the fat builds up in the body and triggers Fabry syndrome and its symptoms.

As an X-linked genetic disorder the syndrome is more common in males than females.

What are the main symptoms of Fabry Disease?

The main symptoms of the syndrome include episodic pain, dark red spots on the skin and an inability to sweat effectively.

Individuals with the syndrome experience kidney and heart issues also. Clouding of the corneas is also not uncommon.

Other health conditions associated with the syndrome include gastrointestinal issues and joint pain, as well as an inability to gain weight and higher risk for stroke.

How does someone get tested for Fabry Disease?

The initial testing for Fabry syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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