A ground breaking partnership between NHS England and the British Heart Foundation could prevent hundreds of heart attacks across Yorkshire each year by identifying people with genetically high cholesterol.
Familial hypercholesterolaemia (FH) is a genetic condition that causes abnormally high cholesterol, which leads to coronary heart disease and can cause a potentially fatal heart attack at a young age. It’s estimated that up to 260,000 people are living with it across the UK, but around 85% are undiagnosed.
NHS England (North) and the BHF have joined forces to launch a region-wide cascade screening service which will see all relatives of people diagnosed with FH tested for the faulty gene. The Yorkshire & Humber Familial Hypercholesterolaemia service is being run at four hospitals across the region:
- York Teaching Hospitals NHS Foundation Trust
- Hull and East Yorkshire Hospitals NHS Trust
- Leeds Teaching Hospitals NHS Trust
- Calderdale and Huddersfield NHS Foundation Trust
Patrick Crowley, Chief Executive at York Teaching Hospital NHS Trust, said: “We are privileged to host this service that will offer significant health benefits to patients and their families affected by this condition. The service will potentially have an important impact on the burden of coronary heart disease and the risk of premature death.”
It now means that if someone living in Yorkshire has unusually high cholesterol and a family history of early onset coronary heart disease their DNA can be tested for faulty genes known to cause FH. If one is found, then their immediate family can be contacted to see if they want to be tested. Likewise, those who are unfortunate enough to have developed coronary heart disease at a young age can be screened for FH where appropriate.
FH, once diagnosed, is a manageable condition. People can be prescribed cholesterol lowering drugs such as statins and are advised to lead a healthy lifestyle to keep their cholesterol as low as possible.
Sarah Huddlestone is one of the first patients to have the genetic test at York Hospital, through the service. She said:
“I’d just finished my degree at the University of York and being in my late twenties it seemed impossible as a very healthy, fit young woman, that my arteries were almost completely blocked caused by FH. I’m very, very lucky, and grateful that I was diagnosed just in time; I started taking statins and had a double heart bypass. My mum’s cholesterol was then checked, she also has FH and just last year she also had successful heart surgery. This new service will help many other families with FH to be found in time, receive simple treatment and care keeping them safe, active and healthy. It’s amazing!”
The BHF has provided nearly £250,000 to fund four specialist FH nurses who will provide testing in hospitals across the region.
BHF Chief Executive, Simon Gillespie, said: “FH is commonly known as a hidden killer, as the majority of people with the condition are undiagnosed and at risk of a potentially deadly heart attack. But it doesn’t have to be this way, as treatment to prevent heart attacks is straightforward once the condition has been identified. We are committed to finding people with FH so that they receive the right treatment to achieve a normal life expectancy. So far, almost 2,000 people across the UK have been diagnosed with the faulty gene through BHF funded cascade testing.
“The BHF has funded research into FH for more than 30 years and our ultimate goal is consistent access to genetic testing across the UK. Today’s launch is a huge step towards achieving that goal, and could pave the way for its rollout nationwide.”
Your family history
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