FHA ground-breaking genetic testing programme for the inherited and potentially deadly high cholesterol condition, familial hypercholesterolaemia (FH) has been created thanks to £1m of funding.

The support from the British Heart Foundation will help to identify the estimated one in 200 families in the UK with FH.

If left undiagnosed, FH can leave individuals at high risk of developing cardiovascular heart disease and dying suddenly at a young age from a heart attack. On average FH shortens life expectancy by 20 to 30 years if untreated.

Professor Steve Humphries, BHF Professor of Cardiovascular Genetics at University College London, said: "“The introduction of cascade testing represents a huge opportunity to identify and treat people before they suffer from potentially life-threatening heart problems.

"After so many years of carrying out the laboratory research on FH, I am delighted now to see genetic testing being rolled out nationwide. But with such a high number of people remaining undiagnosed there is still more to be done if we’re to get a complete picture of how FH affects the UK population."

Simple DNA blood test
The £1 million programme to pay for FH nurses will ensure that the testing service is extended to eight NHS Trusts across England and Scotland, following a successful pilot scheme in Wales, jointly funded by BHF and the Welsh assembly Government.

The pilot identified 1,183 people as likely to have FH compared with just 97 before testing started. If one person is found with FH, on average half of their brothers and sisters and half of their children will also have the faulty gene and be at high risk of early heart disease.

With a simple DNA blood test, an FH specialist nurse can identify whether an individual with a clinical diagnosis of FH carries the faulty gene. If this is discovered the family members 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 comes down to match the average of that of the general population.

Further reading: Plans made to extend statins use should be scrapped, doctors say

The funding commitment forms part of the BHF’s Fight for Every Heartbeat campaign to highlight the importance of urgent research into inherited heart conditions that often remain hidden within so many family trees and, in the case of FH, can take so many lives unexpectedly.

Systematic process to help fight back against FH
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 50% risk of having inherited 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.

As well as the funding for FH nurses, the BHF has made an additional commitment of £130,000 towards the continued development of an FH child register. This register will help to improve our understanding of how children with FH in families across the UK respond to early statin treatment and of the lifestyle changes that are made once someone has been diagnosed.

Professor Peter Weissberg, Medical Director at the BHF, added: "A diagnosis of FH means earlier access to observation and treatment and many more lives saved. 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, commonly at a very young age.

"We have funded Professor Humphries’ work for over twenty years, from the first research to identify the genetic fault through to tests for patients. With the help of our supporters, we’ve proven that cascade testing for FH works. What we need now is a nationwide, systematic process which will make sure any family in the UK at risk can be tested and help them fight back against FH."