5 days ago
Family of man who died from high cholesterol condition urges others to get tested
A Cheshire family say the tragic loss of a family member led to the discovery of a hidden genetic condition – and a potentially life-saving diagnosis for multiple family members.
Mike Clarke, 29, died a week after collapsing from a heart attack in 2015 during a football match - despite medical intervention where stents were fitted in his heart. Blood tests revealed Mike had high cholesterol, something his family had always struggled with but never fully understood.
Mike's brother Simon 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 like why was this affecting so many of us?'
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, from Winsford, 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 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:
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.
