NHS not routinely testing for killer disease

Roughly half of men with FH, if untreated, will have developed heart disease by the age of 55 years, and roughly one third of women by the age of 60. Crucially, half of their first degree relatives (brothers, sisters and children) will be similarly affected but are often unaware of the condition. Early treatment with statins and lifestyle changes have been shown to reduce risk and improve life expectancy to normal, so early identification is crucial as it can save lives, prevent disease, and mean considerable savings for the NHS in the long-term.

An audit of over 2,324 adults and 147 children in 122 sites across the UK, funded by the RCP, British Heart Foundation, HEART UK and the Cardiac Network Co-ordinating Group, Wales and carried out by the RCP Clinical Standards Department, 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 screening and treatment will not only save many lives, but will save the NHS vital resources in future. The findings include:

• Individual patients with FH referred to NHS specialist clinics are well treated
• However, 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.
• While there is good access to DNA diagnosis and funding for DNA testing in the devolved countries, access and funding in England is poor.
• Current resources are inadequate to cope with the identification of the predicted FH relatives of affected cases UK wide. This includes access to trained staff (86% of sites had no lipid specialist nurses), IT provision and pedigree drawing.
• Greater progress has been made with family cascade testing in the devolved countries notably Wales where a coordinated system has been implemented successfully.
• There is a shortfall in child-focused services throughout the country, with only 26% of sites offering paediatric FH services, however, those audited were of a good standard.
• While good management of FH patients is occurring in both small and large sites, there is some evidence that smaller sites adhere less fully to key aspects of the guideline. This is particularly with respect to annual review, collection of detailed pedigree data and initiation of cascade testing.

The report has implications for commissioners and NHS Trusts – structures, commissioning and funding streams need to be improved, and the report makes a series of recommendations to reduce the risk of people dying unnecessarily due to lack of testing and identification:

Recommendations for Trusts

• Commissioning arrangements need urgently to be reviewed for key elements of the services for FH patients, both at national and local levels.
• Systems 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.
• Several aspects of the care pathways for FH patients need to be implemented, including shared care arrangements between hospital and primary care and better links between with several other specialties, including paediatrics.
• Additional resources will be needed to cope with the care of new FH patients identified by cascade testing. Training to address the shortage of staff with key skills will be required.
• The establishment of multidisciplinary teams should be encouraged since they appear to achieve better implementation of the guidelines and management of FH patients.
• Resources are needed for DNA diagnosis and Clinical Genetics input.
• Based on published data, cascade testing alone will find less than 50% of the predicted 100,000 unidentified FH patients in the UK, and other methods for finding FH probands will need to be explored.

Recommendations for national organisations:

• Given that FH families are geographically dispersed, cascade testing may be facilitated by a specifically funded UK FH Register to which all FH cases would be notified.
• A second UK wide audit of services should be commissioned to start in 2012.

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.

Professor Peter Weissberg, Medical Director at the British Heart Foundation (BHF) said:

It’s frustrating and unacceptable that families at risk of FH aren’t receiving the help and attention they deserve from the health service. UK researchers have been ‘on the trail’ of FH for many years. They’ve tracked down many of the culprit genes, developed tests for them, and gathered robust evidence to prove that screening and treatment is effective. They’ve shown that early identification and treatment of people with the condition could not only prevent people from having a heart attack in their 30s or 40s but could in fact give them back a normal life-expectancy. It’s long overdue that FH services come up to scratch to stop lives across the UK being needlessly lost.

We welcome the results of this audit, which we partly funded, and are delighted to be supporting the first UK pilot screening programme, which launched in Wales in December. UK Governments must take their lead from the Welsh Assembly in support of this area.

Dr Alan Rees, Chairman of HEART UK – The Cholesterol Charity, said:

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.