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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 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]

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

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 treatment could potentially lead to a healthier future. 1,2,11,12

References:
1. Laney DA & Fernhoff PM. J Genet Counsel. 2008:17:79-83 2. Germain D. Orphanet. J Rare Dis. 2010;5:30 3. Desnick RJ et al. Ann Intern Med. 2003;138(4):338-46 4. Laney DA, et al. J Genet Couns. 2013;22(5):555-564 5. 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] 6. DNA, genes, chromosomes and mutations. Genetic Alliance UK. Available at: https://www.geneticalliance.org.uk/information/learn-about-genetics/dna-genes-chromosomes-and-mutations/ [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.