Heart condition is ticking time bomb for East Midlands

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A deadly inherited heart condition could be a ticking time bomb for thousands of people in the East Midlands.

Around 19,000 people in the region - approximately one in every 250 - has familial hypercholesterolaemia (FH), a potentially deadly inherited condition which, if left undiagnosed, could cause a fatal heart attack at an early age.

The figures have been released by the British Heart Foundation (BHF), which claims FH causes abnormally high levels of cholesterol in a person’s blood, meaning otherwise healthy individuals are at a much greater risk of having a heart attack at a young age.

Without treatment, people with FH can die prematurely in their 20s, 30s or 40s. Each child of a parent who has FH has a 50 per cent chance of inheriting the condition.

Early treatment with statins for people with FH can bring someone’s life expectancy back to that of someone without the condition. However, the BHF warns people are needlessly dying because the majority of people aren’t diagnosed and treated for the condition.

Thirty years of BHF research discovered one of the faulty genes responsible for the majority of FH cases, prompting NICE to recommend genetic testing for immediate family members of those affected. Pilot projects funded by the charity have shown cascade genetic testing services are highly cost effective and have identified more than 2,000 people with the condition to date. But access to the test is a postcode lottery across the UK.

Recent BHF estimates have shown implementing cascade testing could save the NHS around £3 million per year as a result of avoided heart attacks, strokes and other cardiovascular events.

Catherine Kelly, director for prevention, survival and support for the BHF, said: “Our research has meant that we are now able to diagnose people with FH and prevent them from a potentially sudden and unexpected death at a young age.

“The generous donations of our supporters has funded the science behind breakthroughs for this condition and now we know the genes responsible. However the majority of people remain undiagnosed and despite cascade testing proving to be a highly cost effective and efficient way of saving lives, services across the UK are patchy.”

For information and advice about FH and other inherited heart conditions, visit www.bhf.org.uk/unexpected