Drive to defuse a medical time bomb

Health bosses are warning about Familial hypercholesterolemia (FH)
Health bosses are warning about Familial hypercholesterolemia (FH)
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Hundreds of Wigan residents are thought to have a potentially life-threatening inherited condition which, if untreated, can cause people to die from a heart attack at an early age.

Worryingly, the majority of people - who could number more than 6,000 county-wide - are currently undiagnosed, according to the British Heart Foundation (BHF) and Greater Manchester Academic Health Science Network (GM AHSN).

Familial hypercholesterolemia (FH) causes abnormally high levels of cholesterol in a person’s blood, meaning that 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.

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, including one in Greater Manchester, have shown that cascade genetic testing services are highly cost-effective and have identified over 2,000 people with the condition to date. But access to the test is a postcode lottery across the UK.

To tackle this issue GM AHSN are working towards implementing a co-ordinated genetic testing cascade system in the area, designed to ensure that the local population has access to information, early diagnosis and treatment for FH, and all patients will follow a clear pathway of care.

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

Its associate medical director Dr Mike Knapton said: “With approximately 6,000 people in Greater Manchester living with this potentially deadly condition, there is an urgent need to ensure all high risk individuals have access to FH genetic services.

“Research has shown that early identification and treatment of FH with statins and lifestyle advice, is not only cost effective, but can normalise someone’s life expectancy to that of someone without the condition.”