“The Time For Excuses Is Over” Says Heart UK After Continued Government Failure

Feb. 27, 2013 - PRLog -- LONDON, February 28, 2013 – HEART UK, the Cholesterol Charity, has commemorated International Rare Disease Day by urging the government to establish a national testing programme for Familial Hypercholesterolaemia (FH).

FH is a genetic condition, affecting one in 500 people and when undiagnosed and untreated, sufferers have a much higher premature death rate from cardiovascular disease than the general population. If undetected and untreated, around 50% of men and 30% of women with FH will have developed coronary heart disease by the age of 55. Most cases of FH are heterozygous FH. However, one in a million people have homozygous FH, in which FH is inherited from both parents. This truly rare condition requires more intense, specialised treatment.

Of the estimated 120,000 people in the UK with FH, only 15-20% have been formally diagnosed, despite the fact that, unlike many genetic conditions, FH can be diagnosed and treated relatively simply, preventing premature heart disease that can cause sudden death.

HEART UK Chief Executive Jules Payne said: “A year on from submitting our report to MPs at Westminster, we are extremely concerned that English health authorities are still not taking FH testing as seriously as they could, particularly when a national programme would save lives and save money.

“HEART UK is so disappointed that the NICE guidelines have still not been implemented and the time for excuses is over. It’s a pity that on International Rare Disease Day we’re still talking about Primary Care Trusts failing in their duty to protect people from this entirely treatable condition.”

The HEART UK report, entitled ‘Saving lives, saving families: The health, social and economic advantages of treating and detecting familial hypercholesterolaemia (FH),’ was submitted to politicians at Westminster in 2012. It recommended the implementation of the NICE Guidelines on FH (2008) in England and included new economic modelling that demonstrated the health and cost savings that can be made through improved identification and treatment of FH.  

Mark Warburton, from Bath, is one man who may well be alive today thanks to cascade screening. Mark’s father, David, has undergone two heart bypass operations, the first aged 36. David was found to have FH. Mark and his brother Matthew were also tested positive for the condition, but because it was identified early, doctors envisage they will live long, healthy lives.

Mark said: “My father, brother and I all have FH. It’s relatively common and yet easily treatable and there are thousands of people in the UK who simply don’t know that they or their family are suffering with it. It’s vital that screening is undertaken by families of those who already know that they suffer with FH.”

The 2008 NICE Guideline for the treatment of FH advocates diagnosing FH through ‘cascade screening’ – a process of blood cholesterol and genetic testing in individuals and their families with especially high cholesterol and a history of premature heart disease.

While FH initiatives have been established to address the condition in Scotland, Wales and Northern Ireland, there remains no national FH programme in England, with some 80-85% of the FH population still undiagnosed. HEART UK expected more would be done to diagnose and treat people with the condition.

The HEART UK FH Report established that if 50% of patients with FH are diagnosed and treated, the NHS could save £1.7m per year on health treatment otherwise required for heart disease, while not implementing cascade screening is costing the NHS £1.4 million per year.

HEART UK recommends a national programme for FH in England under the auspices of the National Commissioning Board or similar, which would ensure that access to FH services is available beyond the limited boundaries of a PCT or Clinical Commissioning Group. A UK-wide national patient register and database for FH is also needed to aid better cascade screening across the country.

The NICE Guideline shows that cascade testing, using a combination of cholesterol and DNA tests in affected families, followed by intense lipid lowering therapy, is cost-effective and delivers optimum health outcomes.