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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 have never 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)

Next steps: How to find out if you have Fabry

Go and see a healthcare professional about who in your family may be at risk of Fabry

If you would like to know more about Fabry, or be tested, the next step is to go and see a healthcare professional. Depending on your individual situation this might be:

  • Your relative with Fabry’s doctor, genetic counselor or a member of their healthcare team
  • Someone your relative with Fabry’s doctor refers you to
  • Bringing the tear-off section in the "Your family and Fabry" pamphlet to your own doctor, who may refer you on

Your doctor can determine to see if you have Fabry through a genetic test, usually on a cheek swab, blood, or other tissue sample 1,2

Next steps

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Have a discussion with a healthcare professional, who should assess your risk of having Fabry; explain the nature of the genetic tests including potential advantages and disadvantages; arrange for a test if it is appropriate and should you wish it; and answer any questions you have

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If you consent, a genetic test can be performed to look for Fabry-associated mutations

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If a Fabry mutation is found, your medical team will talk to you more about the disease, any potential disease implications and how to manage it, including the treatment options

If you choose not to be tested for Fabry disease, it’s important to let your healthcare team know that Fabry is in your family if you have any health issues

References

1. Laney DA et al. J Genet Couns 2013;22:555–64; 2. How is genetic testing done? Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/primer/testing/procedure (Last accessed March 2025)

Being highlighted as potentially "at risk" is in no way a diagnosis of Fabry disease. Concerned individuals should speak to a healthcare professional.