Region-wide service to prevent heart attacks identifies more than 100 people living with ‘hidden killer’

A ground breaking partnership between NHS England West Midlands and the British Heart Foundation (BHF) has identified more than 100 people in the region who are living with a life-threatening condition.

The partnership launched a new service to screen for familial hypercholesterolaemia (FH), an inherited condition that causes abnormally high cholesterol, which can lead to coronary heart disease and potentially fatal heart attacks.

If someone living in the West Midlands has symptoms and a family history of early onset coronary heart disease, their DNA can be tested for the gene known to cause FH. If it 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.

The BHF estimates that up to 260,000 people are living with FH across the UK, with around 23,000 people believed to be living with the condition in the West Midlands. However, around 85% of people in the UK are undiagnosed.

Since the service’s launch 12 months ago, the team have received in excess of 1,500 referrals from GP practices and have carried out over 720 genetic tests, leading to 131 diagnoses including some children.

The BHF provided almost £400,000, which funds five nurses to provide testing in GP practices across the region. The team is based at the Queen Elizabeth Hospital Birmingham, part of University Hospitals Birmingham NHS Foundation Trust (UHB), working closely with all of the region’s clinical commissioning groups and accepting referrals from every GP surgery, over 700, across the West Midlands.

By identifying those living with FH, the screening service has been able to identify 37 positive family cascades, which means one or more of their relatives have also been diagnosed with FH.

Amie Burden, from Willenhall in Wolverhampton, was the first person from the Black Country to be diagnosed with FH through the new screening service. She was 12-years-old when her father Philip, now aged 61, suffered two heart attacks and required a quadruple heart bypass. Later that year, a blood test picked up that Amie’s cholesterol levels were abnormally high.

Amie, now aged 30, said: “I was told that I had probably inherited this but at the time, it couldn’t be confirmed it was FH. It was hard to cope with, because back then no-one knew what was wrong with me and I didn’t know of anyone else who was my age and had the same condition. For years, I was monitored and was also placed on a low-cholesterol diet. I couldn’t tolerate the medication, so I actually went a while without treatment.

“I was referred to the West Midlands Familial Hypercholesterolaemia Service (WMFHS) and was tested for FH just before Christmas last year. In the back of my mind, I knew that the test would come back positive. When I got the phone call in January, I wasn’t shocked at all. I was relieved I had been diagnosed, but was also concerned as I was told that my family would also need to be tested for it.”

Amie’s parents were tested through the service in the summer and it was her father’s test that came back positive. When the paediatric arm of the WMFHS service was launched, Amie’s son, Coby Edwards (8) was also tested for the condition. The paediatric service has so far tested 17 children for FH, of which four have been diagnosed with the condition.

Amie, who works as a pharmacy dispenser and technician, added: “I was so worried that Coby had inherited the condition from me. Four weeks after his test, I received a phone call with the results and was told that he didn’t carry the faulty gene. I was so relieved!

“I started treatment for FH in March. Living with FH is tough as I live with the anxiety that I will have a heart attack at a young age. However, thanks to the WMFHS, I have now been given the best treatment I could get and my cholesterol is at the lowest it has ever been.”

Professor Kiran Patel, Medical Director at NHS England West Midlands, said: “NHS England in the West Midlands is thrilled to see the impact this trailblazing service is having on patients and families. It has been a real collaborative effort, working to improve care for those with or at risk of cardiovascular disease.

“It’s going from strength to strength, and with the launch of the new paediatric arm, we hope it will have a real impact on preventing heart disease and heart attacks for future generations too.”

Paul Stern, BHF’s Health Service Engagement Lead for the West Midlands, 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. FH is a manageable condition, and those with it can be prescribed cholesterol lowering drugs and are advised to lead a healthy lifestyle to keep their cholesterol as low as possible.

“We are committed to finding people with FH so that they receive the right treatment to achieve a normal life expectancy. Thanks to a collaborative effort between multiple partners, the WMFHS has been instrumental in doing that.”

Elaine George, BHF’s Clinical Programme Manager for the WMFHS, added: “I’d like to thank everyone involved with the WMFHS, particularly the team of nurses who work tirelessly across the West Midlands.

“Every patient experience survey we have received has been positive about the WMFHS and the team, which is really pleasing.

“Including cascade and paediatric screening also means that FH can be diagnosed across the generations, with all able to live normal lives once they receive the right treatment.”

Research funded by the BHF helped develop the science used to detect the genes that cause high cholesterol, and the treatments we now use to control cholesterol levels. The charity has funded programmes to introduce cascade testing for FH into the NHS to identify more people at risk.

If you have a family history of premature heart disease or sudden death in the family, and suspect that you might be at risk of having an inherited heart condition, please contact the BHF’s Genetic Information Service on 0300 456 8383.