An independent information resource
Fabry disease explained
One place to understand the condition, find your nearest NHS specialist centre, and connect with the people and organisations who support Fabry families across the UK.
On this site
- What Fabry disease is, how it's inherited, and how it's diagnosed
- The UK's specialist NHS centres for diagnosis and treatment
- Patient organisations, including the MPS Society and FIN
- Further reading, guidelines and research
Start here
Explore the site
Whether you're newly diagnosed, supporting a family member, or after something practical like insurance or workplace guidance — here's where to find it.
The condition
Understanding Fabry disease
What causes it, how it's inherited, how it's diagnosed, and how treatment works.
Read the overview →Symptoms & progression
Pain, fatigue, bowel symptoms, heat intolerance, mental health, and rarer complications — plus what "progressive" means in practice.
Explore symptoms →Care & treatment
Treatment centres
The UK's specialist NHS centres for diagnosis and ongoing care, by nation and region.
See centres →Licensed treatments
The enzyme replacement therapies and oral chaperone therapy currently available on the NHS.
Compare treatments →The Fabry App
A companion app for tracking symptoms and getting quick answers between appointments.
About the app →Life & support
Support services
The MPS Society, Fabry International Network (FIN), and other UK charities offering advice and community.
Find support →For employers
Guidance for managers and HR on reasonable adjustments, the Equality Act, and Access to Work.
Read the guidance →Insurance
How a Fabry diagnosis affects life, critical illness and travel insurance — and where cover is realistic.
Understand your options →Looking for clinical guidelines, research or further reading? Visit Resources.
A brief introduction
What is Fabry disease?
Fabry disease is a rare, inherited condition caused by a fault in the GLA gene, which normally makes an enzyme called alpha-galactosidase A. Without enough of this working enzyme, a fatty substance (Gb3) gradually builds up inside cells, particularly in the walls of blood vessels and in organs such as the kidneys, heart and nervous system.
It's a lifelong, multi-system condition — symptoms and severity vary widely between individuals, including between men and women in the same family, which is part of why diagnosis is often delayed. In the UK, care is centred on a small number of NHS specialist teams who coordinate diagnosis, monitoring and treatment.
Read the full overview of symptoms, inheritance and treatment →
Quick facts
- Caused by a fault in the GLA gene on the X chromosome
- Affects an estimated 1 in 40,000–60,000 people, though true prevalence may be higher
- Can affect the kidneys, heart, nerves, skin, eyes and gut
- Diagnosed by enzyme assay and genetic testing
- Treated with enzyme replacement therapy or oral chaperone therapy, alongside symptom management
You're not on your own
Connect with people who understand
UK charities and patient groups offer nurse helplines, peer support, benefits advice and community events for people affected by Fabry disease and their families.
See support organisations