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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)

What is Fabry disease?

Fabry disease is a genetic condition that has the potential to affect most parts of the body, causing a wide variety of possible symptoms.1,2

Possible symptoms of Fabry

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Fabry affects everyone differently, some people with Fabry experience no symptoms, others are severely affected, and everyone else falls somewhere in-between. 1

The type and severity of symptoms, as well as the age they develop, varies between individuals – even those within the same family. 5,8 This means, if you have Fabry, your experience could be very different from that of a relative with Fabry.

It is this variability of symptoms, as well as their overlap with more common conditions, combined with how rare Fabry is, that often makes getting a Fabry diagnosis difficult based on symptoms alone. 1,9,10

Fabry is a progressive disease, meaning it can get worse over time, potentially resulting in serious or life-threatening complications. However, this won’t be the case for everybody and early detection and timely treatment could potentially lead to a healthier future. 1,2,11,12

Click here to learn about what causes the symptoms of Fabry >

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. Desnick RJ et al. Ann Intern Med. 2003;138(4):338-346 4. Yousef Z et al. Eur Heart J. 2013;34(11):802-808 5. Cammarata G, et al. Biomed Res Int. 2015;504784 6. Laney DA. Mol Genet Metab. 2019:126(2):S90-91 7. Yamamoto S et al. Intern Med. 2019;58(4):603-607 8. Laney DA, et al. J Genet Couns. 2013;22(5):555- 564 9. Hilz MJ et al. Dig Liver Dis. 2018:50(5):429-437 1 10. Hoffmann B & Mayatepek E. Dtsch Arztebl Int. 2009;106(26):440-447 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)

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