A prevention programme that identifies people at high risk of coronary heart disease and intervenes early to save lives, was a finalist in the UK’s leading medical awards.
"Genetic testing for FH was almost unknown in England before we started this programme. We couldn’t have got to where we are without the support we had from management – who also encouraged us to put ourselves forward for this award."
Familial hypercholesterolemia (FH) is a common genetic condition that causes an increase in harmful LDL cholesterol in the blood, causing narrowing of the arteries – even in healthy and active people. It is one of the major causes of cardiac events, and it is estimated that more than a quarter of a million people in England are living with the condition undiagnosed.
Celebrating its 10th anniversary this year, Harefield’s FH team spearheads a prevention programme using a combination of detective work and genetic testing technology, to find people who are at risk, test them and their family, and get treatment started early to reduce the chance of premature cardiovascular disease in later years.
The project, which was shortlisted as a finalist in the BMJ awards’ “clinical leadership team” category, started by offering testing to heart attack patients and their families, but has since expanded into the community and involves GP practices and hospitals across Hillingdon and Slough.
Programme lead, consultant cardiologist Dr Mahmoud Barbir, said: “Early prevention is by far the best way to manage this condition – treating the underlying problem before the person experiences a serious cardiac event, and preventing premature deaths. Yet FH is vastly under-diagnosed and under-treated.
“When someone comes to us with a heart attack that we treat, we offer their siblings and other family members a test to see if they have FH, but this is the tip of the iceberg. We knew we could identify and treat more people by getting out into the community.”
The team works closely with GPs to identify, from blood tests and other evidence, people who could be at risk of FH and offer them genetic testing. When someone is found to have the condition, their siblings and children are offered a test. This “cascade” approach has enabled the team to identify young children with FH and start their treatment as early as possible.
The programme first expanded into the community in 2014 with British Heart Foundation funding, after which the Trust decided to make it a permanent service, with FH clinics at Royal Brompton as well as Harefield, and various community hospitals.
Jane Breen, clinical nurse specialist in FH cascade, said: “Genetic testing for FH was almost unknown in England before we started this programme. We couldn’t have got to where we are without the support we had from management – who also encouraged us to put ourselves forward for this award.
“It’s especially rewarding when you see three generations of the same family coming to clinic: we’ve identified something that could have had a serious impact on these families across the years, but with the right treatment they can all expect to live longer and healthier lives.”