Call for routine screening of familial hypercholesterolaemia

An audit has found that an estimated 120 thousand people in England have familial hypercholesterolaemia (FH) with as many as 85 per cent being currently undiagnosed.

FH is an inherited condition causing high levels of LDL cholesterol and around a half of men with the condition, if untreated, develop heart disease by the age of 55 years and one third of women by the age of 60.

The audit carried out by the Royal College of Physicians Clinical Standards Department found that while care for identified patients was generally good, very few families were being genetically screened on systematic basis despite the fact the disease is as common as Type 1 diabetes.

The report makes a series of recommendations for commissioners and NHS Trusts to improve screening and diagnosis.

Professor Steve Humphries, FH 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 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."

And Dr Alan Rees, Chairman of HEART UK – The Cholesterol Charity, commented: "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."

Link

Familial Hypercholesterolemia Audit