Medication helped, but there were still unanswered questions – why was this affecting so many of us?
Tuesday, 15 July 2025
A Cheshire dad has shared his story after the sudden death of his brother led to the discovery of a hidden genetic condition – and a life-saving diagnosis for multiple family members.
Simon Clarke, 31, lost his older brother Mike, to a heart attack in 2015. The 29 year old collapsed during a football match for Whitegate United FC in Northwich and, although stents were fitted, he passed away a week later. Blood tests revealed that Mike had high cholesterol – something Simon and his family had always struggled with but never fully understood.
Simon, from Cheshire said: “After my brother’s death, we all went for tests, I was found to have high cholesterol too and received support at Leighton Hospital's lipid clinic. Medication helped, but there were still unanswered questions – why was this affecting so many of us?”
That question eventually led to a turning point, when Simon’s consultant referred him to a new pilot service screening for Familial Hypercholesterolaemia (FH) – a hereditary condition that causes extremely high cholesterol from birth and significantly increases the risk of early heart disease if left untreated.
Simon underwent genetic testing through the service and a few months later received confirmation that he had FH.
“It was hard to hear – no one wants a lifelong condition – but it wasn’t really about me. It was about getting answers for my family,” said Simon.
“The genetic testing means I now know I have a condition that, even with diet and exercise, will always be present. It allows us to plan and make sure that when the children in our family reach the age where they can be tested, we take that step and don't ignore it.”
Thanks to Simon’s diagnosis, cascade testing began across the family. His nephew – the son of his late brother – was just four when he lost his father. Now 13, he has also tested positive for FH and has already started medication.
“He’s been on treatment since he was 11 – that’s two years of risk reduction already. We can’t change what happened to my brother, but we can try to stop it happening again.”
Simon’s story is just one of many that highlight the impact of the FH genetic testing pilot launched in 2022 across Cheshire and Merseyside. Now, the service has been commissioned on a recurrent basis by NHS Cheshire and Merseyside, with support from Health Innovation North West Coast.
The service is delivered by Liverpool Heart and Chest Hospital NHS Foundation Trust and offers genetic testing to individuals with suspected FH, followed by family cascade testing for first-degree relatives - parents, siblings and children. Those diagnosed receive a personalised care plan, including lipid-lowering therapy.
Since the service was launched:
• More than 1,250 referrals have been received across Cheshire and Merseyside
• 201 people have been diagnosed with FH via genetic test
• 60 children and young people have been seen by the service, leading to 20 confirmed cases
• Almost 200 family members have self-referred following a relative’s diagnosis
Professor Rowan Pritchard Jones, NHS Cheshire and Merseyside’s Medical Director, said:
“Early identification of familial hypercholesterolaemia is vital. With the right genetic testing and follow-up, we can reduce the burden of premature heart disease and intervene before complications develop.
“The early detection and treatment can bring an individual’s life expectancy back to near normal and the cascade model helps entire families. It’s a brilliant example of targeted, preventative healthcare.”
Professor Ian Ashworth, Director of Population Health at NHS Cheshire and Merseyside, added:
“The Familial Hypercholesterolaemia service has already proven to be lifesaving by detecting a condition that is frequently missed. Simon’s story shows the difference it can make to an entire family.
“We’re pleased to have worked closely with Health Innovation North West Coast, who have supported us with their expertise and our work to ensure the service is now commissioned.”
Health Innovation North West Coast’s Project Manager, Theun van Veen, said:
“The importance of testing for Familial Hypercholesterolaemia is clear so we’re delighted to have played our part in making sure the pilot became permanent.
“Many people have worked hard in different parts of the system to make sure it happened which shows the value of true collaboration.”
FH affects around one in 250 people, but fewer than five per cent of cases are diagnosed.
As part of the Lifespan Pathway for Lipid Management 2024, services in Cheshire and Merseyside now aim to offer a cholesterol test to all adults under 40 at least once to help close that gap.
To find out more about diagnosis and treatment of FH please visit the HeartUK or BHF website.