The Genetics of Fabry disease

The diagnosis of Fabry Disease in one family member may lead to the evaluation and diagnosis in other relatives, as Fabry is a defective gene in the X-chromosome. Men have an X and a Y-chromosome whereas women have two X-chromosomes. This is why men may suffer more than women although there are cases where women also have all the symptoms.

Because the disease is genetic, it is important that you contact your relatives and notify them to be checked for Fabry.

Blood tests confirm the level of alpha-galactosidase A (alpha-gal A) enzyme in the blood or biopsy. Care should be exercised in diagnosing females as the level of the alpha-gal A enzyme is not a true indicator of Fabry Disease and they should be checked for the specific gene mutation.

A medical professional can help you understand the inheritance pattern in your family.

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