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Familial Hypercholesterolaemia (FH) and Lipid Management

The NHS Long Term Plan states that the biggest area where the NHS can save lives over the next 10 years is in reducing the incidence of cardiovascular disease (CVD). CVD causes a quarter of all deaths in the UK and is the largest cause of premature mortality in deprived areas.

One of the national AHSN Network’s programmes in 21/22 focuses on Familial Hypercholesterolaemia detection and lipid management optimisation to reduce death and disability due to premature CVD. Read more about the AHSN Network programme.

Familial Hypercholesterolaemia (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 promotes a healthy, active life and lowers blood cholesterol levels, all of which substantially reduce the risk of heart disease.

FH Child-Parent Screening

The Child-Parent Screening programme aims to identify families with Familial Hypercholesterolaemia (FH) supporting the NHS Long Term Plan ambition to reduce CVD.

As part of the Child-Parent Screening programme, the West of England AHSN will support GP practices across the region to implement a clinical pathway which will identify children with FH through a simple heel prick blood test, taken at the child’s routine one year immunisation appointment.

What does child-parent screening involve?

Child-parent screening offers a population wide, low-cost solution to the management of CVD and is currently the best model for FH detection.

With parental consent, a child is tested for FH at their routine 1 year immunisation visit using a Point of Care heel prick capillary test. Evidence shows that age one is when cholesterol measurement discriminates best between individuals with and without FH and screening newborns or adults is less effective. A small blood sample is taken and from this total cholesterol can be measured.

In those children with a reading of >95 percentile, further genetic testing can be undertaken. If the child receives a diagnosis of FH, at least one of the parents will also be positive. Siblings and second degree relatives can also be counselled, screened and treated as necessary.

Adults identified as having FH will receive statins immediately. Children will be given dietary advice and will be regularly monitored. Statins may then be started around age 10.

Programme Benefits

Child-parent screening offers an equitable approach to FH identification and can detect up to 90% of affected people. 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 lifesaving medication and/or lifestyle and dietary changes.

Where a child is identified as having FH, parents, siblings and grandparents can also be tested as necessary potentially identifying full families who have FH. Age appropriate medication and advice can then be offered to families to reduce the risk of cardiac disease.

CPS National Pilot – get involved

The Child-Parent Screening (CPS) programme is currently being piloted, initially for 24 months, across seven AHSN regions, including in the West of England.

If you are a GP or PCN in the West of England and would like to get involved in this programme please view our invitation and contact Clare Evans, Deputy Director of Service and System Transformation – clare.evans14@nhs.net or Rachel Gibbons, Senior Project Manager – rachel.gibbons10@nhs.net to discuss how we can work with you.

Lipids Optimisation

The AHSN Network’s FH and Lipids Optimisation Programme is part of a package of work delivered in partnership with the AAC Rapid Uptake Products (RUP) lipid programme which focuses on: High Intensity Statins, Ezetimibe and PCSK9 inhibitors. Read more about RUP.

We supported NHS organisations to apply for funding through phase three of the Pathway Transformation Fund to increase the adoption and spread of RUP.  Four applications were successful in our region including the following:

  • Gloucestershire CCG and Gloucestershire Hospitals NHS Foundation Trust – Lipid Optimisation. Working with five GP practices we will use search options within practice databases to identify patients at risk of raised cholesterol who would benefit from a detailed medication review.

How a heart attack saved a young mum’s life

In the latest Health Innovation Podcast from the AHSN Network, we speak to a fit and healthy 34-year-old mum who discusses how she had a heart attack while pregnant due to the genetic condition Familial Hypercholesterolaemia (FH), which creates an abnormal level of cholesterol in the blood. Our guest, Clara, talks to Dr Phil Jennings, AHSN Network Lead for the Rapid Uptake Products.

Listen to the Health Innovation Podcast now on Audioboom.

Using Proactive Care Frameworks

To support the case finding of primary care patients with long term conditions, we are piloting a package of tools and resources designed by UCL Partners to enable practice teams to continue to effectively manage patients during and post-COVID-19.

Frameworks focus on the management of Atrial Fibrillation; high blood pressure; high cholesterol; type 2 diabetes; asthma and COPD.

Read more about our work on proactive care frameworks, and access our free implementation resources.

Primary Care

At the West of England AHSN we are working on a wide range of initiatives to support primary care.

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Healthcare Innovation

Proactive Care Frameworks for long term conditions

Find out more about our work, and download implementation resources, to support people with long term conditions through use of UCLPartner's Proactive Care Frameworks.

Read more