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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]

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

Eyes1
  • A whorled pattern in the cornea
  • Fabry cataracts
Heart1,2,4
  • Irregular heartbeat
    (fast or slow)
  • Heart attack or heart failure
  • Enlarged heart
Skin1
  • Sweating less than normal or not being able to sweat
  • Small dark red spots called angiokeratomas, particularly between belly button and knees
Nervous system1,3
  • Pain
  • Hearing loss, ringing in the ears
  • Intolerance to heat, cold, or exercise
  • Transient ischemic attack (TIA) and stroke
  • Pain in the hands and feet
  • Vertigo/feeling dizzy
Kidneys1
  • Protein in the urine
  • Decreased kidney function
  • Kidney failure
Gastrointestinal1,2
  • Nausea, vomiting, cramping, and diarrhoea
  • Pain/bloating after eating, feeling full after a small amount of food
  • Constipation
  • Difficulty managing weight

As a result of other symptoms and potentially due to the disease itself people with Fabry may also experience: depression; anxiety; panic attacks; and social problems5

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

Click here to learn about what causes the symptoms of Fabry

  1. Germain DP. Orphanet J Rare Dis. 2010;5:30
  2. Ortiz A, et al. Mol Genet Metab. 2018;123(4):416-427
  3. Desnick RJ et al. Ann Intern Med. 2003;138(4):338-346
  4. Yousef Z et al. Eur Heart J. 2013;34(11):802-808
  5. Cammarata G, et al. Biomed Res Int. 2015;504784
  6. Laney DA. Mol Genet Metab. 2019:126(2):S90-91
  7. Yamamoto S et al. Intern Med. 2019;58(4):603-607
  8. Laney DA, et al. J Genet Couns. 2013;22(5):555- 564
  9. Hilz MJ et al. Dig Liver Dis. 2018:50(5):429-437 1
  10. Hoffmann B & Mayatepek E. Dtsch Arztebl Int. 2009;106(26):440-447
  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]