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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)

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

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. Germain DP. Orphanet J Rare Dis 2010;5:30; 2. Ortiz A et al. Mol Genet Metab 2018;123:416–27; 3. Cammarata G et al. Biomed Res Int 2015;504784; 4. Laney DA. Mol Genet Metab 2019;126:S90–1; 5. Yamamoto S et al. Intern Med 2019;58:603–7; 6. Laney DA et al. J Genet Couns 2013;22:555–64; 7. Desnick RJ et al. Ann Intern Med 2003;138:338–46; 8. Hilz MJ et al. Dig Liver Dis 2018;50:429–37; 9. Hoffmann B & Mayatepek E. Dtsch Arztebl Int 2009;106:440–7; 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;96:107–17; 12. Mehta A & Hughes DA. Fabry disease. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1292/ (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.