Diagnosis

Signs and symptoms of Fabry disease may be first noted in childhood or adolescence. However, because physicians often do not attribute those signs and symptoms to Fabry disease, patients may not be diagnosed until adulthood.

Studies have shown the average age of diagnosis of Fabry disease was approximately 29 years. Delayed diagnosis may be due to under-recognition of the disease.

Delayed diagnosis may also be due to the fact that Fabry disease symptoms are similar to those of other more common disorders, such as rheumatoid or juvenile arthritis, rheumatic fever, erythromelalgia, neurosis, Raynaud’s syndrome, multiple sclerosis, lupus, acute appendicitis, “growing pains” or malingering, petechiae, or collagen vascular disease.

Fabry disease is a progressive disorder, therefore it important that patients be identified as early as possible. Earlier identification and diagnosis is important. Please note: The safety and effectiveness in pediatric patients have not been established.

Fabry Disease Testing

Fabry disease is inherited, which means it is passed down in families. A genetic counselor can help you to better understand your risk of having Fabry disease and passing it on. For more information on how Fabry disease is inherited in families, see Genetics and Fabry Disease.

If you or a family member experience signs and symptoms common to Fabry disease, 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.

For more information, visit the Getting Tested section to learn more, or call Genzyme Medical Information at 800-745-4447 or 617-768-9000, option 2.

Genetic Counseling

For more information on genetic counseling and services that test for Fabry disease, go to the Patient Support Networks section, or call Genzyme Medical Information at 800-745-4447 or 617-768-9000, option 2.

Do You Have Signs & Symptoms?

Download the Symptom Checklist (PDF)

Newly Diagnosed with Fabry Disease?

Through one of the many support and information groups, you can communicate with someone else in a similar situation with similar concerns, fears, and frustrations. Learn more about these groups in the Patient Support Networks section.

There is much to know about Fabry disease and treatment. For more information about Fabry disease and treatment, ask your doctor. You can also email Genzyme using our Ask Us form.