• 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.

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 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 programmes one specific instruction. The genes themselves are grouped into separate units called chromosomes.

You can think of this like an instruction manual where:

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


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.

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.

1. Germain DP. Orphanet J Rare Dis. 2010;5:30 2. Desnick RJ et al. Ann Intern Med. 2003;138(4):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 August 2019] 4. What is a gene? Genetic Home Reference. Available at: https://ghr.nlm.nih.gov/primer/basics/gene [Last accessed August 2019] 5. Laney DA, et al. J Genet Couns. 2013;22(5):555-564
Being highlighted as potentially at-risk is in no way a diagnosis of Fabry disease. Concerned individuals should speak to a healthcare professional.