About Fabry Disease
What is Fabry disease?
People with Fabry have difficulty in breaking down some of the waste products that build up in their cells. The reason for this build-up is that one of their enzymes (called α-galactosidase A, sometimes shortened to α-Gal A) is either missing, misshapen, or it doesn’t work as it should do.2,3
As the enzyme is unable to do its job properly, there is a build-up of a fatty waste product called globotriaosylceramide (GL-3) which leads to the symptoms of Fabry disease.2
What Causes Fabry disease?
Fabry disease is an X-linked disorder (an inherited disorder caused by a mutation in a gene on the X chromosome which can be passed down by either parent). The mutation in the gene in Fabry disease leads to changes in the α-Gal A enzyme. People with certain mutations make very little or no α-Gal A, whilst people with other mutations may make an α-Gal A enzyme that doesn’t work properly.4,8
Symptoms of Fabry disease
Fabry disease can affect different people in different ways.
Diagnosing Fabry disease
This diagram shows an example of what can happen if a doctor suspects Fabry disease.3,8
Diagnosing Fabry disease
This diagram shows an example of what can happen if a doctor suspects Fabry disease.3,8
*Occasionally, depending on your symptoms, the doctor may request another blood test to make sure.
References
- Galafold NICE Submission 2017.
- Hoffmann B, Mayatepek E. Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447.
- Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi:10.1186/1750-1172-5-30.
- Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
- Hughes DA, Evans S, Milligan A et al. A multidisciplinary approach to the care of patients with Fabry Disease. In Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford:Oxford PharmaGenesis; 2006. Chapter 35.
- Martins A, Almeida V, Obikawa Kyosen S. Guidelines to Diagnosis and Monitoring of Fabry Disease and Review of Treatment Experiences. The Journal of Paediatrics 2009; 155 (suppl 2):S19-S31.
- Yousef Z, Elliott PM, Cecchi F, et al. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013;34(11):802-808.
- Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendation for adult patients. Mol Genet Metab. 2018:123(4):416-427.
