Familial hypercholesterolaemia (FH) is an inherited condition that leaves people with exceptionally high levels of cholesterol in their blood from birth, increasing their risk of having a heart attack from a young age.
FH is caused by a faulty gene, which is passed through families.
As part of a UK-wide programme of funding, the BHF embarked upon a two year programme working with healthcare professionals across Yorkshire and Humber to screen people and their families. A total of 459 people in the region were diagnosed, with more than 3,000 people diagnosed across the UK.
Andi Barrett, a business owner from Leeds was diagnosed with FH by the BHF-funded service. His cousin contacted him to say she had been diagnosed and that he was at risk of also having the faulty gene.
He said “My cholesterol was 7.5mmol/L, which is much higher than it should be. I was asked to come in for a follow-up appointment, to discuss a course of action. I have now been prescribed a statin to help bring my cholesterol down. I do quite a bit of exercise and eat healthily, but with FH, it isn’t enough by itself and my cholesterol would still be high without the medication.
“My uncle died at 61, which is the age that I am now. I believe it just says ‘heart failure’ on his death certificate but I do wonder if he might have also had FH, we just don’t know. That made me really want to get on the medication and make sure I was going to live a longer healthier life.
“It’s really good that this screening service exists to try to find people who have the FH gene, and it is also helping to raise awareness of the dangers of high cholesterol generally and encouraging people to get their levels checked.”
The testing service is to continue, run and managed by local NHS commissioning groups, with support from the BHF.
Joanne Whitmore, clinical lead for implementation projects at the BHF, said: “The BHF is delighted to have supported the launch of this service, which has helped so many people in Yorkshire and Humber with FH – a condition which all too often flies under the radar. While it is great news that we have been able to diagnose so many people, there is still a long way to go. Thousands of people across the UK have undiagnosed FH, and are unknowingly at a higher risk of having a heart attack. Cascade testing saves lives, and it is vital that we now see it rolled out more widely.”