WIREDGOV

It is estimated that up to 6,000 people in Wales have Familial hypercholesterolaemia but as many as 4,800 may be unaware they have the potentially life-threatening condition.

Familial hypercholesterolaemia – or FH - is an inherited condition which causes high levels of cholesterol from birth, and if untreated, leads to coronary heart disease and heart attacks in young adults.

The Welsh Assembly Government in partnership with the British Heart Foundation is funding the roll-out of a screening programme to find people at risk of the condition.

The family cascade screening proposal has been led by the Assembly Government’s Lead Cardiac Advisor Dr Phil Thomas and has involved medical specialities including cardiology, biochemistry and genetics. Health professionals will screen family members of those who have been confirmed with having FH after being tested for high cholesterol or heart disease.

With lifestyle changes and medication, people with FH can reduce their risk of developing coronary heart disease.

The new screening, which has been piloted and evaluated since 2005, will be rolled out across Wales later this year.

Mrs Hart said:

“It is important that we are able to identify people early to give them the help and support to enable them to live life to the full. With the right lifestyle and medication, people with FH should be able to live as long as those without the condition.

“I want to thank Dr Thomas and his team for developing this programme and for the support of the British Heart Foundation. It is an excellent example of partnership working between Government and charities. This new screening initiative will improve greatly the quality of life of people with FH and help to reassure the families of people with the condition. It is a key action in the National Service Framework for Cardiac Disease which I have recently issued.”

Dr Thomas added:

"The family cascade system will use DNA genotyping combined with cholesterol testing, linked to the clinical genetic service. Once individuals with FH are identified, modern drug therapy and lifestyle advice are very useful in preventing coronary heart disease and restoring life expectancy to normal.

“The new screening programme is based on a pilot project that has been running in South Wales since 2005. The project has identified individuals from around 250 families with FH. The project proved to be effective in identifying people with the condition sooner and will have helped to save lives.”

Dr Mike Knapton, Associate Medical Director of the British Heart Foundation, said:

“This service will be a fantastic clinical milestone following decades of research since FH was first described in the 1970s. Since the mid 1980s we have invested in studies - particularly by BHF Professor Steve Humphries - to find genes that cause FH and prove that genetic screening of affected families works. It's wonderful to see the cutting-edge research evolve into a life-saving screening service.”