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NHS not routinely testing for heart condition

Audit finds care generally good for those with the heart condition FH (familial hypercholesterolaemia) but few families are being genetically screened for the inherited condition
By
WebMD Health News
Medically Reviewed by Dr Roger Henderson
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25th January 2011 --  It’s thought100,000 people in the UK are at risk from an undiagnosed heart condition called familial hypercholesterolaemia (FH), according to the Royal College of Physicians (RCP).  FH is an inherited condition causing high levels of LDL cholesterol, which causes early heart disease. One of the best ways to limit the damage caused by coronary heart disease is to identify those at risk as early as possible and one way to do that is to diagnose and treat people with FH and screen their families.

The RCP says roughly half of men with FH, if untreated, will have developed heart disease by the age of 55 years and roughly one third of women by the age of 60.  Crucially, half of their first degree relatives (brothers, sisters and children) will be similarly affected but are often unaware of the condition.  

Early treatment with statins and lifestyle changes have been shown to reduce risk and improve life expectancy to normal, so early identification can save lives.

The audit

An audit of over 2,324 adults and 147 children in 122 sites across the UK, funded by the RCP, British Heart Foundation, HEART UK and the Cardiac Network Co-ordinating Group, Wales and carried out by the RCP Clinical Standards Department, found that while care for identified patients was generally good, very few families were being systematically genetically screened, and there were not enough facilities for diagnosing and treating children with FH in the right care settings. 

Professor Steve Humphries, FH Audit Project Director and Director of the Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, London, said in a press statement: “Although the audit shows that, once identified, patients with FH are being quite well treated in NHS lipid clinics, the lack of commissioned DNA testing and resources for tracing relatives mean that many FH patients remain undiagnosed.  In the UK I estimate that roughly one undiagnosed FH patient a day suffers a coronary event that could be prevented if funding for these cost-effective measures were available.”

Cascade

It’s estimated  120,000 people in England have FH and 85% of those cases are currently undiagnosed. Testing the families of known cases of FH (cascade testing) can identify those with FH, but in England the audit found there is a major lack of family “cascade” testing.

The report has implications for commissioners and NHS Trusts and makes a series of recommendations to reduce the risk of people dying unnecessarily due to lack of testing and identification.

Dr Alan Rees, Chairman of HEART UK - The Cholesterol Charity, said in a press release:“While we’re delighted that patients with FH are being treated well once they’re identified, the audit shows that people with FH are still being failed on a number of levels.  Restricted resources, lack of appropriately trained health professionals, and poor access to DNA cascade testing are just some of the problems facing people with FH. 

“The sad fact remains that most people with FH don’t even know they have the condition.  And when they die prematurely, it remains undiagnosed within their families.  We have proven methods and the means to diagnose and treat those with FH.  A properly resourced UK FH register will help facilitate greater uptake of cascade testing to help us find those people.  This will save lives and money.  It’s time to get serious about FH.”

Published on January 24, 2011

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