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NHS failing to carry out FH screening, says report

31 January 2011

By Chris Chatterton

Appeared in BioNews 593

An audit of 122 NHS sites across the UK by the Royal College of Physicians (RCP) has found that screening for familial hypercholesterolaemia (FH) is very patchy. The report suggests that around 120,000 people have the condition in the UK, but that 85 percent are unaware they have it, which equates to about 100,000 people.

The report found that while services in the devolved countries, such as Wales and Scotland, were adequately funded and seemed to be working quite well, this was not always the case in England. They found that while individuals diagnosed with the condition in the UK as a whole, usually received good treatment, there were significant differences in the availability of genetic screening for family members, with England faring badly. The authors also noted that there were few facilities for screening children.

The report recommends the introduction of a UK FH register. Dr Alan Rees, Chairman of Heart UK - The Cholesterol Charity, said: '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'.

FH is a genetic condition in which individuals have high levels of 'bad' LDL cholesterol - because they are unable to adequately clear cholesterol from their bloodstream - which can increase the risk of heart problems. If left unchecked, around 50 percent of men and a third of women with the condition will have developed heart disease by 55 and 60 years respectively. In the early stages, the condition is often symptomless and is not usually identified unless an individual has a cholesterol test. It is estimated that 1 in 500 people in the UK have the disorder. Treatment involves diet and lifestyle change, as well as the use of cholesterol lowering drugs such as statins. If treated correctly, people with the condition can expect to have a normal life expectancy.

The UK White paper on genetics in the NHS published in 2003, included reference to the introduction of 'cascade screening' for FH, and the National Institute for Clinical Excellence (NICE) introduced clinical guidelines in 2008 on FH which recommended cholesterol and genetic testing of family members. Unfortunately, many NHS sites particularly in England have not been able to implement these services.

Advocates of 'cascade screening' - where family members are also tested following the identification of an individual with high cholesterol related to FH - say that it is an effective way to identify other individuals with the condition.

Professor Steve Humphries, director of the Centre for Cardiovascular genetics at BHF laboratories who was involved in writing the report told the Daily Mail 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), told the Daily Telegraph that 'It's long overdue that FH services come up to scratch to stop lives across the UK being needlessly lost'.

The audit was funded by the RCP, BHF and Heart UK and the Cardiac Network Co-ordinating Group in Wales and published on 24 January 2011.

SOURCES & REFERENCES
BBC News | 25 January 2011
 
Telegraph | 25 January 2011
 
Royal College of Physicians | 24 January 2011
 
Report warns of cholesterol link
Press Association | 24 January 2011
 
Daily Mail | 25 January 2011
 

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