Familial hypercholesterolaemia (FH) is an inherited condition causing high levels of LDL cholesterol, and increased risk of coronary heart disease in men in their 50s and women in their 60s.  Early treatment with statins has been shown to reduce risk and improve life expectancy to normal.

A pilot audit of 248 cases in 12 hospitals in England and two in Wales, funded by the Department of Health and the Welsh Assembly Government and carried out by the Clinical Effectiveness and Evaluation Unit at the Royal College of Physicians, 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.

The audit standards were based on the NICE clinical guidelines for the diagnosis and management of FH published in 2008.  An estimated 120,000 people in England have the condition, as many as have Type I diabetes, and 85% of cases are currently undiagnosed.  Improving resources for treatment and screening will not only save many lives, but will save the NHS vital resources in future.  The audit report makes several key recommendations:

• NHS Trusts will need additional resources to find the undiagnosed cases, in particular more specialist doctors and nurses, and funding to pay for DNA diagnosis
• Systems need to be developed to carry out “cascade” family testing, following up families and setting up an FH patient database
• Clearly defined and agreed care pathways for FH patients are needed in each NHS Trust, including better facilities for seeing children and young people in appropriate settings

Professor Steve Humphries, FH Audit Project Director and Director of the Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, London, said:
“The NICE guidelines have laid out the best way to identify and treat people with FH, and we know that this will save lives and is very cost effective.  The problem at the moment is that most NHS Trusts haven’t yet been able to find funding for the DNA testing or the nursing and support staff to carry out the cascade family testing.  Sorting this out is a key priority.”

Professor Roger Boyle, National Clinical Director for Heart Disease and Stroke said,
“We expect the NHS to follow NICE guidance on diagnosing and treating people with familial hypercholesterolemia and, very importantly, screening their families so that those at risk are identified as early as possible. Between six and eight million people are now taking statins to lower their cholesterol and reduce their risk of vascular disease.  We estimate that this is saving as many as 10,000 lives each year.  More lives will be saved through the Health Checks programme which assesses the risk of vascular disease in people aged 40 to 74 through clinical measurements, including cholesterol levels, and helps them to reduce their risk through appropriate lifestyle changes and/or medication.”

Dr. Alan Rees, Chairman of HEART UK - The Cholesterol Charity - said: “We fail to diagnose 80% of people with FH in the UK.  What clearly hasn’t been happening is the testing of every family member of someone with FH which is essential.  What we need is an integrated national approach to this problem.  HEART UK has the answer - it’s a tool kit that every commissioning authority should use.  This will prevent premature heart attacks and save lives.”

Dr Mike Knapton, Associate Medical Director at the British Heart Foundation said: “Funding should be made available as a matter of urgency so we can test the family members of people with FH.  There are around 100,000 people going about their lives unaware they are at risk of this silent killer - people who, with the right treatment and management could have a normal life expectancy.  The longer the health service delays making this vital investment lives will continue to be needlessly cut short.”

Other news coverage includes:
Genetic cholesterol test warning - BBC article
‘A simple test saved my family’ - BBC article
Hidden Heart Condition Plea - Staff Nurse.com article