Simple genetic test halting the time-bomb of condition that can cause early heart attacks to reach more British families

The British Heart Foundation (BHF) has awarded funding of more than £900,000 to extend a ground-breaking genetic testing programme for the inherited and potentially deadly high cholesterol condition, Familial Hypercholesterolaemia (FH).

An estimated one in 200 families in the UK has the faulty gene associated with FH – the UK’s most common genetic mutation. This means as many as 320,000 people, including around 68,000 people under 18, could be affected. However the BHF warn that the vast majority of these people are never diagnosed, putting them at significantly higher risk of dying young from a heart attack.

FH is caused by a genetic fault that leaves people with abnormally high cholesterol that significantly increases their risk of heart disease, including a heart attack (1). On average FH shortens life expectancy by 20 to 30 years if left untreated.

If one person is found with FH, on average half of their brothers and sisters and half or their children will also have the faulty gene and be at high risk of early heart disease.

But with a simple DNA blood test, a specialist nurse can identify whether an individual with a clinical diagnosis of FH carries the faulty gene. If this is discovered they are then referred for family cascade testing. All immediate first-degree relatives are invited for testing and treatment at their local clinic.

If diagnosed, early statin treatment, lifestyle advice and careful monitoring, means that the life expectancy of an individual with FH goes up to match the average of that of the general population .

BHF’s funding will extend cascade testing to five further NHS organisations across England and Scotland following a successful roll-out across eight sites announced a year ago. The first year of the programme has already identified more than 500 people with FH but there is still a long way to go.

Catherine Kelly, Director of Prevention, Survival and Support at the BHF, said: “Identifying those at risk is crucial if we’re to prevent serious heart problems and break the chain of generations of families losing loved ones to FH-related heart attacks.

“We have funded research into FH for over twenty years, from the first research to identify the genetic fault through to tests for patients. We’re now working with NHS organisations across the country to establish a systematic process which will make sure every family in the UK at risk can be tested and given the life saving treatment that could prevent a fatal heart attack.”

The National Institute for Health and Care Excellence (NICE) has estimated that if 50% of the predicted relatives of people with FH are diagnosed and treated, the NHS could save £1.7million per year on healthcare for heart disease by preventing cardiovascular events. For all children in families where the faulty gene is known and who are at least at 50% risk of inheriting it, NICE recommends they should be tested when they reach the age of ten, when they are old enough to take statins if they need them.

Joanne Whitmore, the FH Clinical Lead at the British Heart Foundation, said: “If high cholesterol is left unchecked, fatty materials can build up in your arteries, increasing your risk of heart disease. The problem with FH is that it dramatically increases the LDL cholesterol in the person’s blood, causing a heart attack, commonly at a very young age. We know that cascade testing within families works, and the challenge is now to engage with NHS organisations and commissioners across Britain so that no family falls through the cracks.

"FH is easily treated, so no family should have to go through the pain of seeing a loved one have a heart attack that could have been prevented. It’s important to talk to your doctor if you think FH runs in your family. ”

David Collings, a civil servant living in Mold in Flintshire, 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. I was referred to the FH 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 is 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 - this might well have saved her life.”

The announcement was made at the British Cardiovascular Society conference in Manchester where the theme of 'Hearts and Genes' brings genetic conditions like FH to the fore of the cardiology community.