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How Fabry Disease Is Diagnosed

Reviewed by Brunilda Nazario, MD on April 23, 2021

It can take a long time to get diagnosed with Fabry disease. Many people wait more than a decade after they first have symptoms to learn that they have this genetic condition. 

Fabry disease is often mistaken for other problems, including arthritis, fibromyalgia, or multiple sclerosis. It may take many visits with different doctors to get the right diagnosis.

Fabry Disease Diagnosis

It might be your eye doctor who first suspects you have this condition. That’s because many people with the condition have cloudy streaks or circle-shaped areas on their cornea at the front of the eye. These hazy patterns don’t often happen with other disorders, so they can help diagnose Fabry disease faster.

Some people may find out they have Fabry disease if someone close to them knows others who have it or recognizes the symptoms.

Your family history can suggest you have Fabry disease, especially if you have a male relative who has had kidney failure, heart disease, or a stroke as a younger person. Research shows that on average, every person diagnosed with Fabry disease has five more family members who have it, too.

If your doctor thinks you might have Fabry disease, they may have you see a specialist to confirm it. This could include nephrologists, who specialize in kidney problems, and geneticists. Pediatricians, cardiologists, and rheumatologists are other possible specialists.

Tests for Fabry Disease

Your doctor first will ask about your symptoms and family history and examine you. Then they might suggest lab tests to check for Fabry disease.

They might take a sample of your blood that can be used for a couple of tests. These are different for men and women.

  • Men. The test measures the amount of an enzyme called alpha-GAL, or how well it works. This enzyme is missing or low if you have Fabry disease. Alpha-GAL breaks down a fatty substance that builds up in your body and can damage your skin, kidneys, heart, brain, and nervous system.
  • Women. The doctor will do a DNA test on your blood to screen for changes to a specific gene that causes Fabry disease. That’s because alpha-GAL enzyme levels in women might be close to normal even if you have the condition.

Both types of blood tests can tell for sure if you have Fabry disease or not.

Genetic Test

Fathers who have the faulty gene for Fabry disease will pass it on to all of their daughters, but not to any of their sons. Mothers with the Fabry gene have a 50-50 chance of passing it on to a child of either sex.

If you plan to have children, you can take a genetic test to check if you carry the gene. Pregnant women can also be tested to see if their babies have the condition. Some states in the U.S. also screen newborns for Fabry disease. Your doctor or a genetic counselor can offer information and guidance.

WebMD Medical Reference

Sources

SOURCES:

National Center for Advancing Translational Sciences: “Fabry Disease.”

Mehta, A., Beck, M., and Sunder-Plassmann, G. Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis, 2006.

Fabry International Network: “Testing and Diagnosis.”

Medscape: “Fabry Disease.”

National Fabry Disease Foundation: “Diagnosis and Testing,” “Eye Symptoms.”

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