Fabry disease is caused by a mutation in a gene called GLA. The GLA gene is located on the X chromosome which is why Fabry disease is referred to as an X-linked disorder.

Men and women can both be affected by Fabry disease but the chances of passing down a mutation on the GLA gene are different.

Testing for Fabry disease and early diagnosis is important as it may enable:

• The identification and testing of family members who may be affected
• Management to help delay progression of disease and improve outcomes

How is Fabry passed down in families?

A father affected by Fabry disease will pass the Fabry mutation on to all of his daughters but none of his sons:

This is because the father only has one X chromosome that must contain the Fabry mutation – his daughters will inherit this, but his sons won’t (they will inherit his Y chromosome)

A mother affected by Fabry disease has a 50:50 chance of passing the Fabry mutation onto any of her daughters or sons:

This is because the mother has two X chromosomes, and either the X chromosome with the Fabry mutation or the X chromosome without the Fabry mutation could be passed randomly onto her children

Just as early identification and diagnosis of Fabry disease is important, ongoing monitoring of symptoms and the disease is also important.

Because everyone experiences Fabry disease differently and symptoms can change over time, it is essential to work with your doctor(s) to monitor all the different parts of your body affected by Fabry disease.

Take the wheel during your next appointment and utilize this Fabry Discussion Driver. This guide was created to help you have a productive discussion with your healthcare provider by allowing you to organize your thoughts ahead of time. As this is only a guide, please be sure to talk to your healthcare provider about any additional information you would like to discuss or questions you may have.