Toddlers should be tested for inherited cholesterol disorder

Screening toddlers for an inherited cholesterol disorder during routine vaccinations could reduce the risk of heart attacks, a study has suggested.

The study tested 10,092 children aged one to two years for genetic mutations linked to familial hypercholesterolemia (FH) – an inherited condition that causes abnormally high cholesterol levels. The toddlers were given a heel-prick blood test during routine immunisation visits across 92 GP clinics in the UK.

According to the authors, 28 children with FH were identified in the study, indicating a prevalence of one in 270, higher than the one in 500 previously reported. The parents of the 28 children identified as having FH were also tested – so-called 'child-parent screening'.

Professor David Wald, consultant cardiologist and lead author of the study, said it was 'the first demonstration that child-parent screening works on a large scale', adding that it is 'the only screening method that stands a reasonable chance of covering the whole population and identifying those at highest risk of an early heart attack'.

Compared to the general population, people under 40 years of age with FH are 100 times more likely to develop premature cardiovascular disease and to have a heart attack.

'The child-parent screening strategy identifies children and their parents together so that early preventive action can be taken. With effective treatment, the screening strategy could prevent up to 600 heart attacks per year in people under the age of 40 years in England and Wales,' said Professor Wald. The results of the study were published in the New England Journal of Medicine.

FH is treated through lifestyle modifications and cholesterol-lowering drugs. The study also found that some of the children identified with known genetic mutations did not have high cholesterol and vice versa. The study's authors argue that the current guidelines for screening – after a close family member dies of a heart attack at an early age – is not useful.

'Now that we've demonstrated this as being effective across England, the next step is for public health agencies to consider offering this routinely at the time of childhood vaccination to test all children aged one to two years,' Professor Wald told The Guardian.

'No extra clinic visits are needed and uptake is high because parents are already focused on the future health of their children and the family as a whole,' he added.