Genetic Counseling for Fabry Disease

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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If you or a family member has Fabry disease, you might benefit from genetic counseling.

What is genetic counseling?

Genetic counselors can talk to you about your risk of inheriting or passing on a genetic disease like Fabry. Your primary care physician can help you get in contact with a genetic counselor. The counselor will take your family history and provide you with information to decide whether you want to be tested for Fabry disease.

If you have already had a genetic test, the counselor will go over its results with you and explain what they mean.

If you are thinking about starting a family (or already have children), the counselor can also talk to you about the risk of passing Fabry disease to your children. They can discuss options for mitigating these risks with future children, such as in vitro fertilization with a pre-implantation genetic diagnosis.

How do people inherit Fabry disease?

Fabry disease is caused by mutations in a gene called GLA. These mutations lead to the alpha-galactosidase A enzyme being made incorrectly, or not at all. Without this enzyme, a type of fat builds up in cells, damaging them and causing disease symptoms.

Fabry disease is an X-linked disorder, meaning that the GLA gene is located on the X-chromosome. Males have one X-chromosome and one Y-chromosome, while females have two X-chromosomes. Therefore, if a male inherits a disease-causing mutation, he will develop Fabry disease. For women, the situation is less clear-cut. The second X chromosome in woman can compensate for a mutation in the first.

Both men and women with a disease-causing mutation can pass the mutation to their children.

What happens if I test positive for Fabry disease?

If you test positive for Fabry disease, you will need to meet with your doctor and a genetic counselor. The counselor will explain your genetic test results, and recommend whether other family members should also have the test.

Your doctor will tell you about your treatment options, likely disease progression, and any symptoms you should expect. They will also advise you about other tests that may be necessary.

If you are planning to start a family, your genetic counselor will talk to you about reducing the risk of your children inheriting Fabry disease.

What happens if I test negative?

Sometimes, people need the support of a genetic counselor after a negative test. It’s not uncommon for people to feel so-called “survivor’s guilt” when they test negative for a genetic disease, especially if other family members test positive.

If you are feeling guilty, sad, anxious, or alone after a negative genetic test, talk to your doctor, counselor, or therapist.


Last updated: May 15, 2020


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.