Greater awareness and the availability of specialist care has helped to delay the average onset of symptoms caused by a rare genetic condition by around five years, according to a recent study. The condition causes early-onset strokes and increases risk of dementia, often affecting multiple members of the same family.
Known as CADASIL, the condition is thought to affect several thousand people in the UK, of which many are supported by the national CADASIL clinic at Addenbrooke’s Hospital.
The clinic is led by Hugh Markus, a consultant neurologist at Addenbrooke’s and Professor of Stroke Medicine at the University of Cambridge. Through the clinic, Professor Markus and his team provide patients with specialist care and advance our understanding of this rare disease.
CADASIL is a leading genetic cause of early-onset strokes and has a huge impact on families.
Hugh Markus, consultant neurologist at Addenbrooke’s and Professor of Stroke Medicine at the University of Cambridge
People with CADASIL may experience multiple strokes which can start between the ages of 30 and 60. While many of these are minor and patients often recover, their overall effect can be severe and debilitating. Many patients also experience migraines and can go on to develop dementia.
The recent study (opens in a new tab), which was led by Professor Markus, included 555 people referred to the clinic between 2001 and 2023. Over this time awareness and understanding of the condition, as well as availability of specialist care have all improved.
On average, patients referred to the clinic before 2016 experienced their first stroke between the ages of 37 and 56 (average 46.7). Patients referred since 2016 typically didn’t start getting strokes until almost five years later, between ages 42 and 61 (average 51.6).
It’s fantastic to know that people like me are now living longer without experiencing strokes. It means we’re not just living longer but getting a better quality of life, which is a testament to the work of the Addenbrooke’s team.
Glenn Bate, CADASIL patient and CADASIL Support UK trustee
Infrastructure for the study was provided by the Cambridge British Heart Foundation Centre of Research Excellence (RE/18/1/34212) and the National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre (NIHR203312).
By creating a tailored service for patients, the CADASIL clinic contributes to these improvements by facilitating genetic testing to diagnose patients and screen family members, contributing to a greater understanding of the condition, and providing targeted advice for patients on how to reduce their stroke risk.
Professor Markus, his colleagues and patients at the CADASIL clinic also raise awareness of CADASIL amongst stroke specialists, helping more patients to get diagnosed and referred sooner. A patient-led charity, CADASIL Support UK has also been set up to help patients and their families.
It means a lot to see that the work we are doing to improve awareness and diagnosis appears to be having a positive impact. There is still a lot more to do as we still have limited options for treating this condition.
Professor Hugh Markus
CADASIL affects small blood vessels throughout the body increasing the risk of bleeds. Largely this effect goes unnoticed except where it causes bleeding in the brain leading to stroke.
Strokes in small blood vessels of the brain are known as lacunar strokes.
CADASIL is caused by genetic changes in a particular gene, called NOTCH3. Between 1 in 50,000 and 1 in 25,000 people are diagnosed with CADASIL, although genomic studies suggest many more people could be undiagnosed.
The genetic change has a dominant effect, meaning that a person with CADASIL has a 50% chance of passing it on to any of their children.
Professor Markus works closely with families in the UK affected by CADASIL and he is the patron of CADASIL Support UK, a charity set up by patients to raise awareness of the condition and provide vital support to patients and their families.
“Thank you for providing world-class care” – Glenn, 69
Glenn Bate, 69 from near Diss in Norfolk, is a patient of the CADASIL clinic and has been a trustee at CADASIL Support UK since 2019.
Glenn was diagnosed with CADASIL following a stroke in 2015. The diagnosis was a surprise as the condition is not widely known about and he was adopted so doesn’t know of any relatives with the condition.
The time following his stroke and diagnosis with CADASIL was difficult for Glenn:
When I first left hospital I had problems with walking, balance and anxiety, it felt like I was going home to die. Having a stroke changed everything in my life, like I had to relearn everything. I couldn’t drive, and I felt my life was over.
Glenn was referred to the CADASIL clinic, which also supports the mental health of patients following a stroke and diagnosis with CADASIL.
The team at Addenbrooke’s helped me enormously. They provided support, particularly with my mental health, and helped me to create strategies to keep my brain active and reduce my risk of more strokes by getting fit and changing my diet.
Glenn Bate
After his stroke, Glenn went on to run several 5k and 10k races and completed the Yorkshire Three Peaks Challenge to raise funds for CADASIL Support UK.
“Now, in some ways I feel like CADASIL has enriched my life. It has allowed me an opportunity to do something worthwhile by raising awareness about the condition.”
Glenn is excited by the recent research and what it means for people diagnosed with CADASIL now. “When you’re diagnosed, the possibility of having more strokes can be really scary. It’s fantastic to know that people like me are now living longer without experiencing strokes. It means we’re not just living longer but getting a better quality of life, which is a testament to the work of the Addenbrooke’s team.”
Professor Markus is the Patron of CADASIL Support UK and works closely with Glenn and other patients. The charity organises an annual conference in Cambridge where patients share their experiences and hear about the latest research progress.
I’d like to thank Professor Markus, his team and everyone involved in providing world-class care at the CADASIL clinic as well as all the people who donate time, effort and money to enable work on CADASIL. Without you these advances would not have been made.
Glenn