NHS failing to screen for deadly heart condition
100,000 people in the UK are at risk of developing a potentially deadly heart condition known as familial hypercholesterolaemia (FH), as trusts fail to act on NICE's call for early diagnosis.
NICE published guidelines in August 2008, setting out a series of recommendations on the diagnosis of FH, an inherited condition that causes high levels of LDL cholesterol which can lead to heart disease.
Roughly half of men with FH, if untreated, will develop heart disease by the age of 55, and roughly one third of women by the age of 60. Crucially, half of their first degree relatives will be similarly affected but are often unaware of the condition.
Early treatment with statins and lifestyle changes can help to lower the risk of heart disease and improve life expectancy, as well as generating considerable savings for the NHS in the long-term.
But an audit of over 2,324 adults and 147 children across the UK, based on the NICE guidelines, found that while care for identified patients was generally good, very few families were systematically genetically screened, and there were not enough facilities for diagnosing and treating children with FH in the right care settings.
In England, there is a major lack of family cascade testing within families of known FH cases, whether carried out on the basis of lipid levels or, more effectively, by a DNA diagnosis, despite NICE recommendations.
While there is good access to DNA diagnosis and funding for DNA testing in the devolved countries, access and funding in England is poor.
The audit, produced by the Royal College of Physicians, recommends that commissioning arrangements be urgently reviewed for key elements of the services for FH patients, both at national and local levels.
Systems also need to be developed and implemented to carry out comprehensive cascade testing. This will require trained health professionals with the appropriate skills to follow up the families of index patients, improved IT resources, including an FH patient database, and pedigree drawing.
Professor Steve Humphries, FH Audit Project Director and Director of the Centre for Cardiovascular Genetics at British Heart Foundation Laboratories, London, said: “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.”
25 January 2011