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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 have never heard of it 7
  • Fabry can be difficult to diagnose based on the symptoms alone 1,8,9
  • Your doctor can test 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 timely 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. 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 March 2025) 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 March 2025)

What causes Fabry?

Fabry is caused by genetic mutations – they are usually passed on from parent to child, but in rare cases they can be unique to the individual. 1,2

What is a mutation? 3,4

Every cell of your body is programmed to work in a particular way, for example to help with digestion, keep your heart beating, or fight infections. To do its job properly, every single cell needs a set of instructions.

DNA is "read" by the cell and provides these instructions. A gene is a section of DNA that programs one specific instruction. The genes themselves are grouped into separate units called chromosomes.

You can think of this like an instruction manual where:

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Sometimes there are changes in the DNA – these are called mutations (variants). You can think of these like misspelled words – one wrong letter can completely change the meaning of the word.

CAR

CAT

How do genetic mutations lead to Fabry? 1,5

Fabry is caused by a variety of mutations in a gene called GLA, which provides the instructions to make an enzyme (a-galactosidase A).

Normally this enzyme helps break down certain sugary-fatty substances (glycosphingolipids) in the cells of our body – but the mutations mean it can’t do its job. This leads to a build-up of those substances causing the symptoms of Fabry.

You can check for Fabry by testing for Fabry mutations 5, click here to find out more >

Families share genetics, meaning they can share Fabry mutations, click here to learn more >

Is Fabry always inherited? 2,5

Fabry and its mutations are most often inherited from a parent. In rare cases it may not be inherited – the Fabry mutations may spontaneously occur and be unique to the individual – these are known as de novo mutations. However, this individual may still be able to pass the disease onto their children.

To find out more about how Fabry can be passed down in families click here >

References

1. Germain DP. Orphanet J Rare Dis 2010;5:30; 2. Desnick RJ et al. Ann Intern Med 2003;138:338–46; 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 March 2025); 4. What is a gene? Genetic Home Reference. Available at: https://ghr.nlm.nih.gov/primer/basics/gene (Last accessed March 2025); 5. Laney DA et al. J Genet Couns 2013;22:555–64

Being highlighted as potentially "at risk" is in no way a diagnosis of Fabry disease. Concerned individuals should speak to a healthcare professional.