Children could be screened for familial hypercholesterolaemia during routine GP visits, researchers said last night.
Researchers identified some 40 children at risk during a programme of screening undertaken during routine vaccinations.
They also report that the prevalence of mutations linked to the disease is nearly double previous estimates. They found one in 270 cases compared with one in 500 cases.
The study, conducted at Queen Mary, University of London, involved 10,059 children at 92 practices. Some 40 cases of familial hypercholesterolaemia were found.
Experts said an existing screening programme – meant to test members of affected families – was failing and should be made to work before mass testing is undertaken.
The findings of the research were reported in the New England Journal of Medicine.
Researcher Professor David Wald said: "This is an example of an effective screening strategy being combined with routine vaccination, which has clear advantages. No extra clinic visits are needed and uptake is high because parents are already focussed on the future health of their children and the family as a whole.
"The one-stop service requires no new clinical infrastructure and is simple and inexpensive to implement."
The British Heart Foundation said it had funded the development of a test – but the NHS had been slow to implement it.
Medical director Professor Sir Nilesh Samani said: “The majority of people living with familial hypercholesterolaemia (FH) are still undiagnosed, putting them at higher risk of suffering a deadly heart attack or stroke before they reach 50.
“Early diagnosis in children is likely to substantially improve treatment of their condition and will help find other family members with FH. But before nationwide screening is adopted by the NHS more work needs to be done to show it’s a cost-effective way for picking up individuals with FH which will be acceptable to families.
"Before any future change in practice based on this new research, the widespread rollout of the current cascade testing programme is vital if we’re to prevent people unnecessarily dying from FH."
NEJM 27 October 2016
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