Fabry disease


What are the first steps after an initial diagnosis of Fabry disease?

After an initial diagnosis of Fabry disease, doctors will take a comprehensive medical history to look for signs and symptoms of disease and will also run tests to check kidney function, heart health, and neurological function. Individuals may be referred to a dermatologist for skin examination, to an ophthalmologist for an eye exam, to a cardiologist for check on heart function, to a audiologist for hearing assessment, and to medical genetics and a genetic counselor for a genetics consultation.

The best way to obtain the most accurate, current, clear, and comprehensive information is to be seen at a Fabry focused center that specialize in the treatment of patients with Fabry disease. At most centers you will see a Fabry-focused doctor, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. The team will work with your current doctors to organize the treatment, tests, and specialists you need.

In order to find a Fabry disease specialist who can provide more information on Fabry disease, please refer to the National Fabry Disease Foundation online resource. Please also feel free to call the Emory Fabry Center at 800-200-1524 to locate a center in your state.

In the United Kingdom, there are certain centers that specialize in genetic disorders, such as Fabry disease. Speak to your physician about finding a specialist. Other parts of the world also have great resources and centers of excellence for Fabry disease. Again, talking to your doctor can be an important first step in finding a specialist.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fabry-disease/treatment/572 • DATE UPDATED: 2019-12-12


Fabry Disease: A Guide for the Newly Diagnosed. (2006, January 1). Retrieved November 22, 2019, from http://genetics.emory.edu/documents/lsdc/factsheet44.pdf.

Discover Fabry. (n.d.). Retrieved November 22, 2019, from https://www.discoverfabry.com/.

Lysosomal Storage Disease Websites. (n.d.). Retrieved from http://genetics.emory.edu/patient-care/lysosomal-storage-disease-center/websites.html.

Mehta, A. (2017, January 5). Fabry Disease. Retrieved November 22, 2019, from http://www.ncbi.nlm.nih.gov/books/NBK1292/.

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