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Thousands unaware they have deadly inherited heart condition

Lack of routine screening for familial hypercholesterolaemia

Ingrid Torjesen

Tuesday, 25 January 2011

People at risk of inheriting high cholesterol are not being routinely screened for the condition, a report by Royal College of Physicians has warned.

Familial hypercholesterolaemia is an inherited condition, which causes high levels of LDL cholesterol and subsequently early heart disease. Roughly half of men, if untreated, will have developed heart disease by the age of 55 years, and roughly one third of women by the age of 60. 

Half of first degree relatives (brothers, sisters and children) will inherit the condition, but early treatment with statins and lifestyle changes can reduce risk and improve life expectancy to normal, so early identification is crucial.

Care of over 2,324 adults and 147 children in 122 sites across the UK were audited against the NICE clinical guidelines for the diagnosis and management of FH published in 2008. The results showed 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 familial hypercholesterolaemia.

An estimated 120,000 people in England have familial hypercholesterolaemia, as many as have Type I diabetes, but 85% of cases are currently undiagnosed.  

Specifically the findings showed that in England, there is a major lack of family “cascade” testing within families of known familial hypercholesterolaemia cases, whether carried out on the basis of lipid levels or, more effectively, by a DNA diagnosis. While there is good access to DNA diagnosis and funding for DNA testing in the devolved countries, access and funding in England is poor. 

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

Professor Peter Weissberg, Medical Director at the British Heart Foundation (BHF) said: “It’s frustrating and unacceptable that families at risk of familial hypercholesterolaemia aren’t receiving the help and attention they deserve from the health service.”

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