Fabry disease

Diagnosis and Testing

Why does it take so long for some people to be diagnosed with Fabry disease?

Fabry disease can take a long time to be diagnosed because the symptoms are not very specific and they overlap with other more common diseases, like chronic fatigue syndrome and irritable bowel syndrome. People may be called hypochondriacs or told symptoms are "all in their head" because many standard lab tests and assessment can't detect Fabry disease. Fabry disease is considered a rare disease and it is often not in the list of possible causes for health problems. Many people with Fabry disease are given a symptom specific diagnosis or a misdiagnosis until an eye finding, a kidney biopsy, or a family member is diagnosed with Fabry disease leading to the right diagnosis.

For more information about how to talk to your doctor about Fabry disease or how to get tested for Fabry disease, there are resources such as the "Fabry testing roadmap" that doctors can use to order testing or you can reach out to the Fabry support groups: Fabry Support and Information Group and the National Fabry Disease Foundation.

Emory University Fabry disease FAQs, updated 6/12/2015

https://www.fabrycommunity.com/en/Patients/Education/Diagnosed.aspx

http://www.ncbi.nlm.nih.gov/books/NBK1292/

Fabry testing roadmap" https://dev.genetics.emory.edu/docs/Fabry-Roadmap-4-05.pdf[/link

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