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Fast Fabry Facts

  • Fabry is a genetic condition that can be passed down the generations of a family 1
  • The seriousness of Fabry varies, some people experience no symptoms while others develop life-threatening complications 1 
  • Fabry can affect most parts of the body creating a wide variety of symptoms 1,2
  • Even people in the same family can have different symptom types and severities, as well as be different ages when the symptoms start 3-6
  • Fabry is a rare disease – many people won’t have heard of it 7
  • Fabry can be difficult to diagnose based on the symptoms alone 1,8,9
  • Your doctor can test for Fabry using a genetic test, usually on a cheek swab, blood or other tissue sample 6,10
  • There are different treatment options available for those with Fabry 2,11
  • Fabry is progressive, it can get worse over time – early diagnosis and timely treatment could potentially lead to a healthier future 1,2,11,12


For more information, explore the other areas of the website or speak to a healthcare professional.

References

1. Germain DP. Orphanet J Rare Dis. 2010;5:30 2. Ortiz A, et al. Mol Genet Metab.
2018;123(4):416-427 3. Cammarata G, et al. Biomed Res Int. 2015;504784 4. Laney DA. Mol Genet Metab.2019:126(2):S90-91 5. Yamamoto S et al. Intern Med. 2019;58(4):603-607 6. Laney DA, et al. J Genet Couns.2013;22(5):555-564 7. Desnick RJ et al. Ann Intern Med. 2003;138(4):338-46 8. Hilz MJ et al. Dig Liver Dis. 2018:50(5):429-437 1 9. Hoffmann B & Mayatepek E. Dtsch Arztebl Int. 2009;106(26):440-447 10. How is genetic testing done? Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/primer/testing/procedure (Last accessed March 2025) 11. Germain DP et al. Clin Genet. 2019;96(2):107-117 12. Mehta A & Hughes DA. Fabry disease. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1292/ (Last accessed March 2025)

Fabry family tree

Your family & Fabry

Welcome.

This website is designed to help individuals who have family members with a Fabry disease diagnosis understand what this may mean for them. Fabry is a genetic condition that can be passed down the generations of a family, meaning if one person in a family is diagnosed with Fabry, others may also have the disease.1

This website is designed to help you learn more about Fabry, why you might have a Fabry mutation, and what to do next if you want to know more.

References

1.Germain DP. Orphanet J Rare Dis 2010;5:30

What is Fabry?
How is Fabry passed down in families?
What causes Fabry?
Next steps: How to find out if you have Fabry
Fast Fabry facts

If you choose not to find out if you have Fabry disease, it’s important to let your healthcare team know that Fabry is in your family. If you have any Fabry-related health issues, this could prompt a diagnosis

This is not a diagnostic/prediction tool for Fabry disease. Concerned individuals should speak to a healthcare professional.