What are the next steps?

Once you have worked out which relatives may be at risk of Fabry, you can decide when and how you might want to talk to them.

It doesn’t matter how you choose to communicate with them. Face-to-face, over the phone, online or email – there is no correct way. However, there are some important points you should cover:

  • Fabry is a condition that can be associated with a wide variety of symptoms, even members of the same family can have very different experiences of symptoms (The ‘Our family and Fabry’ leaflet, available to download, has a helpful diagram) 1-6

  • Based on how Fabry is passed down in families and your family tree, it is possible that they could be at risk of Fabry 7

  • A genetic test, usually on a cheek swab, blood or other tissue sample, should be able to tell them if they carry a Fabry mutation 3,8

  • There are treatment options available for Fabry disease and as Fabry can get worse over time, treatment at an early stage may have health benefits 1,2,9,10

All of the above points are covered in the ‘Our family and Fabry’ leaflet which is available to download. Also available in the resource section is an example letter, if you want to write to your relatives but can’t find the right words – you can send it as it is or use it to help you write your own.

If they want to know more, they can go and speak to a healthcare professional about their potential risk of Fabry

If your family members would like to find out more about Fabry, or be tested, the next step for them is to go and see a healthcare professional. Depending on the individual situation this might be:

  • Your doctor, a genetic counsellor or a member of your healthcare team

  • Someone your doctor refers them to

  • Taking the tear-off section in the ‘Our family and Fabry’ leaflet to their own doctor, who may refer them on

Speaking to a healthcare professional
Your family members can have a discussion with a healthcare professional, who will likely assess their potential risk of having Fabry, explain the nature of the genetic tests including potential advantages and disadvantages, and arrange for a test if it is appropriate and should they wish it.

Getting tested
Genetic tests are usually performed on a cheek swab, blood or other tissue sample. 11 Tests will be performed to look for mutations associated with Fabry. 3

If a Fabry mutation is found
If a Fabry mutation is found, their medical team will tell them more about the disease, how to manage it and any potential implications.

If family members choose not to be tested
If family members choose not to be tested for Fabry disease, it’s important they let their healthcare team know that Fabry is in their family. If they have any Fabry-related health issues, this could prompt a diagnosis.

1. Germain D. Orphanet. J Rare Dis. 2010;5:30 2. Oritz A, et al. Mol Genet Metab. 2018;123(4):416-427 3. Laney DA, et al. J Genet Couns. 2013;22(5):555-564 4. Cammarata G, et al. Biomed Res Int. 2015;504784 5. Yamamoto S et al. Intern Med. 2019;58(4):603-607 6. Laney DA. Mol Genet Metab. 2019:126(2):S90-91 7. How is Fabry Disease Inherited. National Fabry Disease Foundation. Available at: https://www.fabrydisease.org/index.php/about-fabry-disease/fabry-disease-inheritance [Last accessed August 2019] 8. How is genetic testing done? Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/primer/testing/procedure [Last accessed August 2019] 9. Germain DP et al. Clin Genet. 2019;96(2):107-117 10. Mehta A & Hughes DA. Fabry disease. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1292/ [Last accessed August 2019] 11. How is genetic testing done? Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/primer/testing/procedure [Last accessed August 2019]
Being highlighted as potentially at-risk is in no way a diagnosis of Fabry disease. Concerned individuals should speak to a healthcare professional.