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 kidney, 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

Since symptoms in women can be variable, doctors can easily miss the clues that could lead to a diagnosis of Fabry disease. That is why it is so important for women with a family history of Fabry disease to create a Family Medical Tree to help determine if testing is needed. Learn more about women and Fabry disease

Fabry disease symptoms in children 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.

Testing for Fabry disease is simple

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 men and women

For males, a blood test measures 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 a variety of testing options for Fabry disease

Doctors who can diagnose Fabry disease

While you may have discussed your Fabry symptoms with a primary care physician or other specialists such as an ophthalmologist or dermatologist, a geneticist has the training to diagnose Fabry disease and help you find appropriate care. If your doctor suspects Fabry disease, he or she can refer you to a geneticist for a definitive diagnosis. In addition to consulting with a geneticist, there are also specialists throughout the U.S. with experience managing Fabry disease.

Once you have been diagnosed with Fabry disease, the next step is understanding how to manage the disease long-term.

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 a "corneal whorl" that can only be seen during an eye exam. Learn more ›