Amicus Therapeutics Pty Ltd,

Fast Fabry facts

  • Fabry is a genetic condition that can be passed down the generations of a family1
  • The seriousness of Fabry varies, some people experience no symptoms while others develop life-threatening complications1
  • Fabry can affect most parts of the body creating a wide variety of symptoms1,2
  • Even people in the same family can have different symptom types and severities, as well as be different ages when the symptoms start3-6
  • Fabry is a rare disease – many people won’t have heard of it7
  • Fabry can be difficult to diagnose based on the symptoms alone1,8,9
  • You can check for Fabry using a genetic test, usually on a cheek swab, blood or other tissue sample6,10
  • There are different treatment options available for those with Fabry2,11
  • Fabry is progressive, it can get worse over time – early diagnosis and treatment could potentially lead to a healthier future1,2,11,12

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

  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 August 2019]
  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 August 2019]

Next steps: How to find out if you have Fabry

Go and see a healthcare professional about who in your family may have a Fabry mutation

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 counsellor or a member of their healthcare team
  • Someone your relative with Fabry’s doctor refers you to
  • Bringing the tear-off section in the ‘Our family and Fabry’ leaflet to your own doctor, who may refer you on

You can check to see if you have Fabry through a genetic test, usually on a cheek swab, blood or other tissue sample1,2

Next steps

Have a discussion with a healthcare professional, who should assess whether you have a Fabry mutation; 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

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

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

  1. Laney DA, et al. J Genet Couns. 2013;22(5):555-564
  2. How is genetic testing done? Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/primer/testing/procedure [Last accessed August 2019]