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Screening plan to identify youngsters at risk of early heart disease

Thousands of toddlers will be screened for an inherited gene that can cause early heart disease as part of a new national pilot programme.

Over the next two years, 30,000 children across England will be assessed using a heel prick blood test to identify if they have a ‘faulty gene’ which causes familial hypercholesterolaemia (FH).

FH is an inherited condition passed down through families which can lead to extremely high cholesterol levels. It affects 1 in 250 people in the UK, yet over 90% of cases are still undiagnosed.

Without treatment, FH can lead to heart disease at a young age. Identifying affected individuals before the onset of disease is important because treatments can be put in place that promote a healthy, active life and lowers blood cholesterol levels, all of which substantially reduce the risk of heart disease.

The Child-Parent Screening pilot programme, funded by NHS England and Improvement and delivered by the AHSN Network, will involve a number of GP practices across seven areas in England over the next two years.

Parents will be offered the heel prick blood test during their child’s routine immunisation appointment, which usually happens between the age of one and two. If they are identified as having high cholesterol, their parents are then offered testing which enables two generations to be tested at once.

Adults identified as having FH will receive statins immediately. Children will be started on a healthy diet from age one and offered statins from around age 10.

Rebecca McKenzie, a biology teacher from Cornwall, took part in an earlier research study, led by Professor David Wald, looking at the efficacy and feasibility of child-parent screening for FH in primary care practice, which led to eight members of her extended family being diagnosed with FH.

Her son, Harrison, who is now nine, was invited to have the heel prick blood test during his routine immunisation appointment which identified FH. As a result, Rebecca and her two daughters, Emily, 13, and Lucy, 11, were also diagnosed. Further testing on her extended family identified Rebecca’s mother, brother and two nieces as also having the condition.

The 42-year-old said: “Since being diagnosed, we have become a lot more conscious about the saturated fats that we take in. It has been so helpful to know early on as it's meant I was able to introduce and encourage good eating habits right from the start when Harrison started to eat solid foods. I’m sure many parents would agree that starting new healthy habits is easier than breaking bad ones. This developed into our 'normal' of watching our intake of saturated fats and making simple switches.

“I would encourage any parents who are invited to take part in the child screening programme via their GP to take the opportunity. It’s better to have all the information to be able to make that informed decision. For me, I didn’t need to think about it, I wanted all the information. I see it the same as the newborn heel prick test. If there’s an inherited disorder that is easily treatable and it’s just a little scratch to find out, then it’s worth it.”

The two-year pilot programme will complete in 2023 and, following an evaluation, the aim is to roll the Child-Parent Screening service out across the other eight regions covered by the AHSNs. 

The regions with GP practices taking part in the pilot programme are: North East and North Cumbria, North West, West Midlands, West of England, Oxford, North West London and East of England.

Professor Julia Newton, Medical Director, Academic Health Science Network for the North East and North Cumbria, said: “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 40 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.”

To find out more about the Child-Parent Screening pilot, visit: https://www.ahsn-nenc.org.uk/childparentscreening

 

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ExCel London
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Central Sterilising Club 60th Anniversary Annual Scientific Meeting

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4th - 5th April

Access the latest issue of Clinical Services Journal on your mobile device together with an archive of back issues.

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