FH screening programme for 30,000 children nationwide

Medical Devices

Familial Hypercholesterolaemia is a hereditary illness that has the potential to result in high cholesterol. One in two hundred and fifty people are impacted by it in the UK, but more than 90% remain undiagnosed, resulting in heart disease from a young age if it goes untreated. In the coming two years, a heel prick blood test will be carried out on 30,000 children across England to see if they have the gene associated with familial Hypercholesterolaemia (FH).

The Child-Parent Screening pilot programme is aimed to serve two years and reach completion by 2023, subsidised by NHS. The main goal is for the Academic Health Science Network to include GP practices in 8 of the regions they cover across England. So far, seven areas are getting involved, including North Cumbria, the West Midlands, and Oxford.

“FH is a potentially life-threatening condition but is easily managed if identified early and treated“

Parents of the children being screened will have the optional opportunity to have their child receive a prick blood test simultaneously as their regular immunisation appointment, which usually occurs between 1 and 2 years of age. This will identify if they have high cholesterol levels and if so, the child will be put on a healthy diet at one year old and only allowed to have statins, a cholesterol-lowering medication, at age 10. The parent then can receive the test, and if Familial Hypercholesterolaemia is detected, they will be able to take statins immediately.

Medical director professor, Julia Newton, explained “FH is a potentially life-threatening condition but is easily managed if identified early and treated. The new clinical service that will be piloted across seven regions within the AHSN Network will screen two generations at once. If a child has the gene, one in two of their first-degree relatives will have it as well, all you need to do is find one person and then you can track it through the family. We know that people who have the gene are significantly more likely to have a cardiovascular event before the age of forty but if we start families on treatment early, the risk reduces back to as if they don’t have the gene. This is the first time a clinical service of this kind for FH will be introduced in England and it has huge potential to increase detection of the condition.”

The leader of the FH study, consultant cardiologist, Professor David Wald, described how “The key to preventing premature heart attacks due to FH is early identification. Child-parent screening does this in a simple and acceptable way that benefits both child, parent and the wider family. In our study most parents accepted the offer of testing their child for FH during the one year immunisation visit. They immediately saw the logic in preventing heart disease at the same time as infection in their child. Child-parent screening brings together genetics and disease prevention in a general practice setting. It has the potential to prevent many thousands of heart attacks under the age of fifty.”

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