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 won’t have heard of it 7
Fabry can be difficult to diagnose based on the symptoms alone 1,8,9
You can check 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 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. Oritz 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]
