This year’s meeting in Lisbon marked the 20th anniversary of the Fabry International Network (FIN), a time to reflect on two decades of collaboration and progress.
Since its founding in 2004, FIN has grown from a small board to a global network of over 50 member organisations. Milestones celebrated included FIN’s swift coordination during the 2009 enzyme replacement therapy (ERT) shortage and its continued commitment to initiatives such as Fabry Awareness Month (April), Fabry Women’s Day (first Saturday in April) and youth-focused programmes.
Ongoing efforts are reducing time to diagnosis and expanding access to therapy worldwide, reflecting FIN’s dedication to patients at every stage of their journey.
FIN Awards
The 2025 FIN Award was presented to Slovakia’s Physiotherapy Project, a standout example of patient-centred care. The project developed an informative brochure on the benefits of physiotherapy for Fabry patients, grounded in direct patient feedback. This initiative highlights the value of supportive care in improving quality of life alongside medical treatments.
Key scientific updates
Pain in Fabry disease – Prof D. Hughes
Pain remains one of the most common and challenging symptoms in Fabry disease. Professor Hughes discussed various pain mechanisms, including peripheral neuropathy, autonomic dysfunction, ion-channel abnormalities and vascular inflammation.
Effective management requires validation of the patient experience, with treatment strategies ranging from lifestyle changes and cognitive therapies to pharmacological approaches.
Fabry and the heart – Dr A. Roy
Dr Roy’s presentation emphasised that cardiac complications often begin earlier than expected. Dr Roy explained that ECG findings can appear in “asymptomatic” patients. Stroke risk is heightened, particularly in younger patients, suggesting that atrial fibrillation may be underdiagnosed. Cardiac fitness (VO₂ max) is also reduced early.
The takeaway: earlier and more frequent cardiac monitoring is essential.
Menopause and Fabry disease – D. Laney
Menopause presents overlapping symptoms with Fabry disease, such as night sweats, mood fluctuations and nerve issues, complicating diagnosis and care. Given Fabry patients' already elevated risk for stroke and cardiovascular disease, hormone therapy must be carefully managed. Local oestrogen therapies offer symptom relief without increasing stroke risk. D. Laney encouraged open discussion around menopause in Fabry clinics.
Ageing and Fabry disease – Prof P. Aguiar
Late-onset Fabry is now more common, thanks to improved diagnostic methods. Professor Aguiar addressed how ageing intersects with Fabry-related issues like stroke, cognitive decline and osteoporosis. As patients live longer, care must extend beyond ERT or chaperone therapies. Supportive interventions such as cardiovascular and cancer screening, pain management and mental health care are critical. A multidisciplinary, personalised approach is key for older patients.
What’s new in Fabry – Prof D. Germain
With more than 175 Fabry-related publications already in 2025, research continues at a rapid pace. Highlights included discussion about the use of artificial intelligence to improve diagnostics and reporting. New and emerging treatments are also promising.
Research and future directions
The meeting highlighted several priority research areas:
Care strategies for older populations, especially those over 70
Better menopause management for women with Fabry disease
Stroke prevention and early detection of cardiac disease
Development of substrate reduction and combination therapies
Innovations in AI and gene therapy offer hope for earlier diagnosis and effective treatment, but robust clinical design and transparent reporting are urgently needed.
More than ever, patients must remain at the centre of all research and treatment development.
The 2025 FIN Meeting reinforced a clear message: Fabry disease care is evolving. We must move towards early intervention, symptom-focused strategies and holistic, age-appropriate care. Above all, patients should be treated as individuals, not just as diagnoses.
As we look to the future, FIN’s mission remains vital: fostering global collaboration, accelerating research and ensuring that every person living with Fabry disease has access to compassionate, comprehensive care.
If you would like to learn more or read Alison’s full conference notes, please email Alison.
