Campaigners today call for the NHS to adopt genetic screening for hypercholesterolaemia after the success of pilot projects.
The cascade screening projects have been financed by the British Heart Foundation and have found more than 2,000 people with the condition so far.
The charity says a national screening system would save the NHS about £3 million a year through reduced numbers of cardiovascular events. It believes that familial hypercholesterolaemia (FH) affects some 250,000 people.
A pilot project in Wales has been adopted by the country’s All Wales Genetics Service.
Across England and Scotland, the foundation says it supports 27 familial hypercholesterolaemia nurses in 12 sites. The cascade screening projects seek to offer genetic testing to all members of affected families.
Catherine Kelly, from the foundation, said: “Our research has meant that we are now able to diagnose people with FH and prevent them from a potentially sudden and unexpected death at a young age.
“The generous donations of our supporters has funded the science behind breakthroughs for this condition and now we know the genes responsible. However the majority of people remain undiagnosed and despite cascade testing proving to be a highly cost effective and efficient way of saving lives, services across the UK are patchy.
“If we are to avoid sudden and unexpected deaths from FH, we need to ensure that everyone at risk has access to these tests.”
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