The importance of early diagnosis

A Fabry disease diagnosis is often delayed. The time to diagnosis of Fabry disease takes an average of 15 years from when symptoms first appear. Individuals may experience many years of suffering and frustration while potentially receiving unnecessary medical treatments due to misdiagnoses. Fabry disease is progressive, meaning it can get worse over time, leading to serious problems in the kidneys, heart, and brain. If Fabry disease signs and symptoms are recognized promptly, doctors can intervene earlier and possibly help delay more serious complications. The most serious life-threatening problems from Fabry disease commonly begin in the fourth or fifth decade of life. Do not wait. If you think you may have Fabry disease, talk to your doctor now.

Fabry disease is often missed in women and children

In females...

Symptoms can be variable, so doctors can easily miss the clues that could lead to a diagnosis of Fabry disease. That is why it is so important for females with a family history of Fabry disease to create a family medical tree to help determine if testing is needed. Learn more about females and Fabry disease.

In children…

Fabry disease symptoms  are often mistaken for other disorders, including juvenile arthritis, growing pains, or rheumatic fever. Missing gym class because of heat and exercise intolerance, painful hands and feet, embarrassing frequent trips to the restroom, and even being labeled as “lazy” are just some of the many challenges children with Fabry disease may face.

“The advice I’d give is to have a support group, people you can talk to and confide in.”

Jodie, living with Fabry disease.

Testing for Fabry disease is straightforward

Diagnosis just requires a blood test or saliva sample

If you or someone in your family have symptoms of Fabry disease, your doctor can help you decide whether to get tested. Your family history may play a role in this decision because Fabry disease is inherited. Once a person is suspected to have Fabry disease, the test to confirm it is straightforward, though it differs for males and females.

Fabry disease testing for males and females

For males, a blood test can measure the level of alpha-GAL enzyme. If the alpha-GAL enzyme assay (“assay” is another word for “test”) shows low enzyme activity, then the person has Fabry disease.

For females, a DNA test is required. This is because alpha-GAL enzyme levels in blood may be low or near-normal in females. DNA tests can be performed using blood or saliva.

Learn about testing options for Fabry disease

Find additional brochures in Resources and Support

Which doctors play a role in diagnosing Fabry?

Doctors who may suspect Fabry disease include:

  • Nephrologists (kidney doctors)
  • Cardiologists (heart doctors)
  • Ophthalmologists (eye doctors)
  • Dermatologists (skin doctors)
  • Primary care physicians

The medical specialists who typically establish the diagnosis of Fabry disease include:

  • Nephrologists
  • Geneticists (gene specialists)
  • Cardiologists
  • Gastroenterologists (digestive organ specialists)

There are specialists throughout the US with experience managing Fabry disease.

Why an optometrist/ophthalmologist?

For many people, It was their eye doctor who first suspected they might have Fabry disease. That is because many people with Fabry disease have a distinct pattern on their cornea called “corneal whorling” that can only be seen during an eye exam. Learn more ›