Child Parent Screening – The best model for FH detection
19th July 2021
We’re delighted to welcome Catherine Kelly to the AHSN NENC team as Deputy National Programme Manager.
Catherine will be working with Joe Chidanyika on the National AAC/AHSN Lipids Management and FH Programme, working more specifically on a new exciting Child Parent Screening Programme to identify patients with Familial Hypercholesterolaemia (FH).
In this blog, Catherine outlines what the Child Parent Screening Programme is, the tests involved and the potential benefits to wider population health,
There have been many new pressures and priorities created in our healthcare system over the past year so I wanted to take some time to talk about the benefits of engaging in the Child Parent Screening (CPS)Programme.
First and foremost, the Child Parent Screening Programme offers a fantastic opportunity to identify patients with Familial Hypercholesterolemia (FH).
So what is FH?
Familial Hypercholesterolaemia (FH) is a condition that affects around 150,000 people in England. It is passed on genetically and can cause early heart attacks and death. Once identified it is controlled by treating high levels of cholesterol in a patient’s blood.
FH is an inherited condition which leads to exceptionally high cholesterol levels, often 2 – 4 times those of the general population.
There are two types of FH:
Heterozygous FH (HeFH): This is where the individual inherits a faulty gene from only one parent.
Homozygous FH (HoFH): This is where the individual inherits the same faulty gene from both parents.
Adults aged 20 – 39 with FH, potentially parents of young children, have been found to be 100 times more likely to have a cardiac event than those without.
Identifying patients with FH
As you can see the potential patient benefit to identifying those with FH is huge and the NHS Long Term Plan addresses this, with an ambition to identify 25% of individuals with HeFH over the next 5 years. This is an increase from a current rate of 7%.
Child Parent Screening
One strategy to achieve this objective could be a unified approach of child parent cascade screening combined with Primary Care searches of adult health record data and subsequent genetic testing of appropriate patients.
Evidence shows that at the age of one cholesterol measurement discriminates best between individuals with and without FH and combining this with genetic testing means there is the potential to identify up to 90% of those affected.
The great news is that it requires a really simple test, carried out at the routine 1 year immunisation appointment so no extra doctors visits for parents. The test uses a point of care heel prick capillary.
If the child receives a diagnosis of FH we know that at least one of the parents will also have a positive diagnosis. Siblings and second degree relatives can be counselled, screened and treated as necessary. One study found that for every 1,000 children screened, 8 people (4 children and 4 adults) were identified as having FH and could begin potentially life saving medication and/or lifestyle and dietary changes.
Child Parent Screening is currently the best model for FH detection and also offers a population wide, low cost solution to the management of this potentially devastating disease.
Find out more
Find out more about the Child Parent Screening Programme or contact Catherine on [email protected]