Alpha-mannosidosis
Fabry disease
Nephropathic cystinosis
Beta-thalassaemia
Leber hereditary optic neuropathy
Homozygous familial hypercholesterolemia
Lipodystrophy
Epidermolysis bullosa
Fabry disease
Fabry disease is a genetic condition affecting whole body systems including the kidneys and heart. It is caused by a change in the GLA gene, which leads to the accumulation of fats to harmful levels in various organs, such as the kidneys, heart, eyes, and nervous system.1–3
Fabry disease is also known as:1,2
- Anderson-Fabry disease
- Alpha-galactosidase-A deficiency
Fabry disease is currently estimated to affect 1 in 40,000 people in the UK and can cause severe symptoms in both men and women.2,3
Fabry disease signs and symptoms usually appear during childhood or adolescence and can include:1–3
Gastrointestinal difficulties
Fatigue
Decreased ability to sweat
Intolerance to hot or cold
In male patients, Fabry disease is diagnosed with a blood test to measure activity of an enzyme called alpha-galactosidase-A.2–4 If the activity is low or undetectable, genetic testing may be carried out to confirm the diagnosis.2–4 Diagnosis in female patients can be confirmed with a genetic test to identify changes in the GLA gene.2–4
It is important to note that those living with Fabry disease may have very different experiences of the disease and symptoms. If you, or anyone you know, is or may be affected by symptoms of Fabry disease, please speak to a healthcare professional as soon as possible to get appropriate advice.
Further support and resources
There are several organisations and charities across the UK that aim to raise awareness for patients with rare diseases. Many provide a supportive community in which individuals and their families can both seek and offer support to others facing similar challenges.
For resources to support you with managing your condition:
Patient Resources
If you’re a patient, or a carer of a patient, who has been prescribed one of our products, you’ll find information and resources to help manage your condition here
References
- National Institute of Neurological Disorders and Stroke. Fabry disease. Available at: https://www.ninds.nih.gov/health-information/disorders/fabry-disease.
- MPS Society. Fabry. Available at: https://mpssociety.org.uk/conditions/fabry.
- NHS North Bristol. Fabry disease service. Available at: https://www.nbt.nhs.uk/sites/default/files/Fabry%20Disease%20Service.pdf.
- NHS Gloucestershire Hospitals. Alpha-Galactosidase A (Fabry’s Disease). Available at: https://www.gloshospitals.nhs.uk/our-services/services-we-offer/pathology/tests-and-investigations/alpha-galactosidase/.