BHF calls for national rollout of genetic testing for Familial Hypercholesterolaemia.
As many as 250,000 people in the UK may be living with the deadly inherited gene which causes Familial Hypercholesterolemia (FH), according to a revised estimate.1
The charity is calling on health services across the country to urgently rollout a nationwide cascade testing programme.
FH is a genetic condition caused by a genetic fault that leaves people with dangerously high cholesterol from birth which significantly increases their risk of a heart attack. On average, FH can shorten life expectancy by 20 to 30 years if left untreated. Only around 20,000 people are thought to be receiving full treatment in lipid clinics.
Despite recommendations by National Institute for Clinical Excellence (NICE) that NHS Trusts and health boards roll-out cascade testing for FH for families across the UK, setting up of FH services has been slow in England and Scotland.
To start tackling the problem, the BHF have funded 25 FH nursing posts across 13 different locations to make sure millions of people have access to testing. As those posts have been set up over the past two years, 974 people have been tested and 374 people (38% of those tested) have been shown to have FH, ensuring they get the treatment they need.
The charity believes that the slow response by health services is putting thousands of people across the UK at an unnecessary risk of heart attacks early in life.
If all of the estimated 250,000 people with the FH gene in the UK were identified and treated, as many as 25,000 deaths of people in the UK could be avoided2.
The BHF has funded Professor Steve Humphries and his research team at UCL over the past 30 years to find the genes responsible for the condition and develop genetic testing methods for FH. They used these techniques to establish a national DNA diagnostic service, which has already found many people with FH by tracing the relatives of known FH patients.
Thanks to Professor Humphries' research, genetic testing for FH is starting to be rolled out across the NHS. Thisensures close family members of people diagnosed will be tested to ensure they get treatment as soon as possible if they have FH too.
The key to preventing early heart attacks caused by FH is early diagnosis. The younger someone is identified, the earlier they can begin to be treated before the high cholesterol causes permanent harm to their arteries. When their diagnosis has been confirmed they can receive support for a healthy lifestyle and reduce their risk of dangerously high cholesterol. Statins may be prescribed adults or children over the age of 10.
Professor Peter Weissberg Medical Director at the British Heart Foundation, said: "Thirty years of BHF-funded research into this deadly genetic condition means we've now got the ability to identify people at high risk of a heart attack because of FH and give them treatment that could save their life. FH is often called a hidden killer, but the truth is it doesn't have to be hidden and it doesn't have to be fatal; treatment to prevent heart attacks is straightforward once the condition has been identified. The job we face now is to raise awareness of FH and change the hearts and minds of commissioners and others who purchase healthcare services to ensure that this is the last generation where families are left at high risk of early heart attacks."
If people are diagnosed early enough and given early statin treatment, lifestyle advice and careful monitoring, the life expectancy of someone with FH rises to match that of someone in the general population.
With a simple DNA blood test, it's relatively straightforward to find out whether someone carries the faulty FH gene. If this is found, they are then referred for family cascade testing, where all immediate first degree relatives are also invited for testing and treatment. Typically if one person is found to have FH, half of their brothers and sisters and half of their children will also have the faulty gene and be at a higher risk of early onset of heart disease, including a heart attack.
Professor Huon Gray, National Clinical Director for Heart Disease at NHS England said: "Research has given us a much better understanding of this illness and NICE has published guidance on how we should approach the better detection and management of affected families. A model for cascade testing is available, and treatments are widely available. The collaborative work by organisations that form the FH Steering Group is helping increase the identification of affected individuals but more work needs to be done. We all have a role to play in ensuring that future generations aren't put at an increased risk early heart attacks."
David Collings, a civil servant living in Mold in Flintshire has first-hand experience of living with FH. He said: "On Boxing Day 2010, I could feel my chest getting tighter and tighter as I was walking my dogs through the forest and I was feeling exhausted and breathless. After a few days of struggling, I went to my doctor who said he thought I had had a heart attack. I was absolutely shocked, particularly as I had never smoked and had been walking and cycling for years. After I was diagnosed, I was referred to the FH support group in Wrexham where I was living at the time. Not only did I have the gene, but six people in my immediate family were quickly identified, including my daughter Bethan who was 12 at the time.
"FH can be a ticking bomb and I feel so much better knowing that my daughter has been identified and can be monitored and treated. If my local clinic hadn't found the gene, the first sign of my daughter being affected could have been a heart attack in twenty years' time. Finding out that she carries the gene as well might well have saved her life."