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 2,501 people in the UK, yet more than 90 per cent of cases are still undiagnosed.
Without treatment, FH can lead to heart disease at a young age. Identifying affected individuals before the onset of the 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, including north Cumbria, 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.
Two generations tested at once
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 – which reduce illness and mortality in those who are at high risk of cardiovascular disease – immediately. Children will be started on a healthy diet from age one and offered statins from around age 10.
Professor Julia Newton, medical director, Academic Health Science Network for the North East and North Cumbria (AHSN NENC) which is delivering the pilot regionally, 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.”
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 another eight regions.
Eight members of family diagnosed
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.
Jules Payne, chief executive at HEART UK, added: “The earlier FH can be identified and treated the better. By identifying FH at a very young age, children can grow up healthier by eating better and moving more and family members with the FH gene can get appropriate treatment.
“Too few people know they have FH and we need to find more people to prevent the consequences that can often be avoided.”
To find out more about the Child-Parent Screening pilot, visit: https://www.ahsn-nenc.org.uk/childparentscreeni
