All children between the ages of 1 and 2 should be screened for familial hypercholesterolemia (FH) during routine immunisation visits, UK researchers say.
Screening children this young has the added benefit of identifying parents with FH who didn’t realise the condition ran in their family, say the researchers who screened more than 10,000 toddlers in the study for FH through genetic and cholesterol testing using blood samples from a point of care heel prick test.
Associate Professor David Sullivan from the NHMRC Clinical Trials Centre at the University of Sydney said the findings could, in some part, turn the current policy of family cascade screening on its head.
“Family cascade screening is logical and worthwhile but it’s slightly inefficient,” he said, speaking to the limbic.
“When we rely on a strategy that starts with high cholesterol in middle aged adults the patient that is much less informative but if we are finding cases in children the proportion of actual cases detected with this approach is more favourable.
“… The people who need the most urgent help are likely to be their parents because they’re approaching the age where they are likely to get the cardiovascular consequences of the genetic condition.”
Professor Sullivan also noted that the study reported finding the condition in one in 276 participants – a figure that makes it almost twice as common as previously thought.
“This is important information – when we look at children this young we realise the condition is more common than current figures estimate.”
In the study children were identified as having FH if they had high cholesterol and an FH mutation, or two consecutive blood tests showing high cholesterol.
Because optimal cholesterol levels in children are not as well established as in adults, researchers used the multiple of median (MoM) measure to determine a high cholesterol reading and used a cut-off of cholesterol 1.53 times the median score.
Some 28 children in the study were found to have FH, the authors said.
Meanwhile 28 parents of children with FH were also identified as having FH – 25 of whom were put on treatment to lower cholesterol.
According to the study authors, if they’d used a lower cut-off cholesterol level of 1.35 times the median score, and only tested for FH mutation in those with cholesterol above that level they would have found 40 children, 32 of them with an FH mutation, and 40 parents.
Professor Sullivan said such screening would allow for a more targeted approach to diet and lifestyle recommendations.
Just making small improvements when cholesterol problems are identified early in childhood would be “very worthwhile” he said but he also cautioned that leaving the problem unattended from an early age onwards could “cause much more damage than people might originally have imagined.”
“Small changes sustained long term can be very powerful. We would particularly start to engage with a heart healthy diet from about age five onwards and we recognise international guidelines, which recommend therapy from about age 10 onwards and the most important thing is engaging the confidence and support of the family in any decision to start pharmacological treatment if necessary in children.”
Meanwhile in an article on the UK’s NHS website a Public Health England spokesman said its expert advisers did not recommend a screening program for FH in children.
“The Committee routinely reviews all of its recommendations every three years and this latest review found uncertainty about how well a programme would work in practice and no clear evidence on whether screening children would reduce illness or death for this condition.”