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]

How is Fabry passed down in families?

Men and women can both be affected by Fabry but the likelihood of a father or a mother passing down the Fabry mutation is not the same.1,2 It depends on the chromosomes they pass onto their children.1

What is a genetic mutation?3
Genetic information is stored in DNA, providing instructions that tell every cell in your body what to do. Mutations can occur in DNA, these are errors in the instructions.

To learn more about what causes Fabry, click here

The X and Y chromosomes determine the sex of a person.1

Women have two X chromosomes – sons and daughters will randomly receive one of these X chromosomes

A mother affected by Fabry disease has a 50:50 chance of passing the Fabry mutation onto any of her daughters or sons:1

  • This is because the mother has two X chromosomes, and either the X chromosome with the Fabry mutation or the X chromosome without the Fabry mutation could be passed onto her children
  • Which X chromosome is received is completely random, so it could be that a mother passes the Fabry mutation to all or none of her children, and any combination in between

Men have one X and one Y chromosome – sons will receive the Y chromosome and daughters the X chromosome

A father affected by Fabry disease will pass the Fabry mutation on to all of his daughters but none of his sons:1

  • This is because the father only has one X chromosome that must contain the Fabry mutation – his daughters will inherit this, but his sons won’t (they will inherit his Y chromosome)

Below is an example family showing all the possible people with a Fabry mutation, if only the person who completed the tree (‘Me’) has a Fabry diagnosis.

The people highlighted in blue could have the Fabry mutation, but in reality, it is unlikely that they all will. As Fabry is rare and you only need one Fabry mutation to experience the disease, it is likely that only one side of your family will be affected, for example.

Here is an example of how Fabry could be passed down the generations of a family, starting with the maternal grandfather.

  1. 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]
  2. Laney DA, et al. J Genet Couns. 2013;22(5):555-564
  3. 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]