A pilot scheme to screen for a potentially life-threatening condition has been put on a permanent footing in Cheshire and Merseyside.
Hundreds of families are set to benefit from the service which screens for familial hypercholesterolaemia (FH), a hereditary condition of high cholesterol that is often overlooked.
The specialist service, which Health Innovation North West Coast has supported since the pilot was launched in 2022, has now been commissioned recurrently by NHS Cheshire and Merseyside.
Under the system an individual with suspected FH will be offered a genetic test. Should the test prove positive the individual is referred for family cascade testing under which their first-degree relatives – parents, siblings and children – are also tested for the condition.
Should any of them test positive, their immediate family are in turn invited for testing.
If a patient is diagnosed with FH, patients are counselled by FH service staff and referred back to the referring party with a bespoke management plan which includes lipid-lowering therapy.
Professor Ian Ashworth, Director of Population Health at NHS Cheshire and Merseyside, said: “We’re delighted to be able to recurrently commission the Familial Hypercholesterolaemia service which has been proven to save lives and identify a condition that can often be missed.
“Not only that, testing for FH has been proven to save money in the long term. We’re pleased to have worked closely with Health Innovation North West Coast who have supported us with their expertise and our work to ensure the service is now commissioned.”
Since the service was launched:
- More than 1,250 referrals have been received
- 201 patients have been diagnosed with FH via a genetic test
- 60 paediatric patients – 17-years-old and younger – have been seen; 36 have completed testing, with 20 positive results
- 197 first-degree relatives of patients with a confirmed diagnosis of FH have self-referred into the service.
Theun van Veen, Project Manager at Health Innovation North West Coast, said: “The importance of testing for FH is clear so we’re delighted to have played our part in making sure the pilot became permanent.
“Many people have worked hard in different parts of the system to make sure it happened which shows the value of true collaboration.”
One in 250 people have FH, which can lead to early heart disease, but fewer than five per cent are diagnosed. Services in Cheshire and Merseyside now aim to offer a cholesterol test to all adults under 40 at least once to avoid missing FH as part of the Lifespan Pathway for Lipid Management 2024.
Early detection and treatment with lipid-lowering drugs can bring an individual’s life expectancy back to near normal.
Listen to a 2023 Health Innovation North West Coast podcast with FH patient Simon Clarke, and watch Simon in this film by Liverpool Heart and Chest Hospital.
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