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Fabry Disease Diagnosis
The earlier Fabry disease is diagnosed, the earlier health care providers can begin treatments to help manage symptoms and disease-related complications. However, because Fabry disease is uncommon and its symptoms are not well recognized or may be mistaken for those of other illnesses, diagnosis can be challenging.
Many specialists may diagnose Fabry Disease as it is a multi-system disorder. These may include:
Cardiologist (heart specialist)
Nephrologists (kidney specialist)
Neurologist (nervous system)
Ophthalmologist (eye specialist)
Geneticists (hereditary disorders)
General Physician
Gastroenterologists (intestinal disorders)
Rheumatologists ( connective tissue disorders)
The following symptoms are common to Fabry disease and may prompt physicians to suspect and test for Fabry disease: burning pain in the hands and feet, temperature intolerance, a purple-red rash in the midriff area (angiokerotoma), corneal whorling, and episodes of intense pain (Fabry crisis). Click here for more detailed information about other symptoms associated with Fabry disease.
If you or a family member experiences any or all of these symptoms, consult with your doctor. After an examination, he or she can determine whether to run a test for Fabry disease. This test, called an enzyme assay, measures the amount of alpha-GAL enzyme activity in the blood.
Because Fabry disease is an X-linked genetic disorder, it is more common in males than in females. However, females can have mild to moderate (or sometimes even severe) disease or can be asymptomatic carriers of the Fabry gene. Generally, enzyme assay testing is not useful for diagnosing Fabry disease in females. Instead, genetic testing can be done to either diagnose the disease in females or identify female carriers.
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