Nigel Hawkes, Health Editor
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Children as young as 15 months should be screened for high levels of cholesterol, a team of doctors from London has said. Doing so would be a life-changing intervention for a minority of babies who are born with an inherited tendency to high cholesterol levels, enabling families to plan ahead and take precautions against heart disease.
The test would also identify that at least one of the baby’s parents was at a similar risk, enabling them to receive treatment.
Cholesterol is not measured until middle age normally, when a high figure for LDL “bad” cholesterol is a signal to take action. Those with high scores are counselled to improve their diet and take more exercise or, more likely, be prescribed a statin. But some people with a family tendency towards high levels of cholesterol ought to be screened at a much younger age.
Familial hypercholesterolaemia, which is passed on in the genes, is a condition suffered by about one in 500 people. It causes very high levels of LDL cholesterol in the blood. Often the condition is not discovered until a carrier of the gene suffers a heart attack at a young age. Screening would provide a better way to find the vulnerable people.
David Wald, of Barts and the London Queen Mary’s School of Medicine and Dentistry, and colleagues, suggest that doctors could gain a double benefit by testing young children. Not only would they detect children with the condition during a routine visit for childhood immunisation, but they could also test parents. For every child who is discovered with the condition, there would be at least one affected parent. Treatment for lower levels of cholesterol would be started immediately in the parent but delayed in the child until they were older.
Adults with familial hypercholesterolaemia who are aged between 20 and 39 have a risk of dying from coronary heart disease that is 100 times greater than that of people without the condition.
The research, released online by the British Medical Journal, looked at 13 studies involving 1,907 people with familial hypercholesterolaemia, and more than 16,000 controls. If children were screened at any age between one and nine, detection rates for the condition were an estimated 88 per cent, the research showed. Follow-up tests on the parents of a child with the condition could identify the affected parent 96 per cent of the time.
For even greater certainty, DNA tests could be used to detect the actual mutations responsible. This would show with 100 per cent accuracy whether a child carried a gene that was known. But it would miss a proportion of children who carry mutations that are unknown and cannot be tested for. It would also add to the cost.
The team say that the easiest time to test is at the age of 15 months, when babies come to doctors’ surgeries to have their measles, mumps and rubella (MMR) vaccine.
Dr Wald, a cardiologist and senior lecturer at the school, said that he believed that parents would find the test acceptable. He and his colleagues have said that, over time, most families with a known risk would be identified through screening.
“If, after a few decades, the uptake of screening was high enough, the need to test children at 15 months of age would disappear because all or nearly all affected individuals would be known and it would be necessary to test only the children of families known to have the disorder,” he said.
“The strategy has the potential to prevent a major cause of coronary heart disease in young adults.”
June Davison, a cardiac nurse at the British Heart Foundation (BHF), said: “It’s estimated that only around 10 per cent of the predicted 110,000 people with the condition are currently identified. Steve Humphries, a BHF professor of cardiovascular genetics at University College London, is also working to tackle this problem with another approach, which offers genetic screening to family members of those already diagnosed. All approaches should be considered – because, once identified, the condition can be treated.”
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