Piloting child-parent screening to detect FH and save lives

In this blog, Rachel Gibbons, Programme Manager, speaks to GP Dr Amy Howarth whose practice in Gloucestershire is participating in the Child-Parent Screening Service Programme. The Child-Parent Screening Programme is currently being piloted, initially for 24 months, across seven AHSN regions, including in the West of England.

The programme aims to identify families with Familial Hypercholesterolaemia (FH) through the use of a simple heel prick test undertaken at a child’s one year immunisation appointment. FH is an inherited condition which can lead to extremely high cholesterol levels. In those children with a reading of >95 percentile, further genetic testing can be undertaken for family members. FH 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 and significantly increases the incidence of fatal or non-fatal heart attacks. Early detection of FH is important as, if started early enough, treatment gives patients the same life expectancy as the general population.

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

Dr Howarth, why was it important to you to be part of this new programme?

I have Familial Hypercholesterolaemia, so when I heard about this project, I was quite keen to get involved.  It’s a really interesting way to potentially increase the diagnosis rate and find more cases.

Apart from those times when there’s a very high cholesterol result, I’m not sure we’re (in primary care) considering FH as often as we could. This programme can help change that.

I was eleven when my dad had a heart attack, in fact it was on my 11th birthday.  He was 39 and he went off to work and then my mum had a phone call from his boss saying they had called an ambulance for him.

He was taken to the BRI in Bristol, made a recovery and came home five days later on Christmas Eve – people had longer inpatient stays for MIs (Myocardial Infarction) then. They said that his cholesterol was very, very high and that my sister and I both ought to have our cholesterol tested.

Mine was 6.8 I think at that time and hers was 8.8 so they made the diagnosis of Familial Hypercholesterolaemia. There was a great deal less in the way of diagnostics at that point, no genetic testing or anything, no lipid clinics that I remember.

My parents were advised that we should follow a low-fat diet. No medication was suggested at that time. It wasn’t until I was 17 that my GP prescribed statins and apart from four or five years off when I was trying to get pregnant, being pregnant and breastfeeding, I’ve been taking them ever since.

So, did you feel was there was much support for you as a patient at that time?  It was obviously a big shock what had happened to your father.

My father is 72 now and he still gets emotional thinking about that time. My mum was told that he might not make it to the next day. It was all touch and go.

They were also worried about me and my sister. And now I’m a parent, I can imagine how hard that was.

I was referred to a lipid clinic in my 20s. I’d been on statins for several years and my GP wanted to check I was on the right treatment, whether we should be doing anything else.

We know a great deal more about FH now and there’s a lot more support available.

My daughter has been tested and will continue to be monitored.

So, it’s still early days for your Practice, but now you have started to screen children, how have you found it?

We’ve been screening for six weeks and we’ve found that it’s been well received. Everyone who has brought children for their immunisations has wanted to take part in this screening.

And it’s been a straightforward procedure once we’ve gotten used to it and we’ve settled into a routine.

What would you like to see for the future for child-parent screening?

I’d love to see the pilot be successful and demonstrate an increase in case detection rates.

And if it then gets rolled out across the country then that would be amazing.

It would mean that as primary care nurses and doctors we’d be much more aware of FH and FH screening generally. If screening happened at everybody’s one year immunisation appointment, it’s bound to raise awareness amongst healthcare professionals.

I think if it was something that happened nationally, then my nurses would be quite pleased they were involved from the outset. It’s quite exciting to be involved in something that might lead to a national change in practice – and ultimately save lives.

It’s good to be able to talk to the parents about FH as well; people don’t always realise, that by identifying FH in their baby we’re potentially helping lots of other family members too.

I think it’s going to make a big difference.

What would you want other GPs to know if they were considering joining the pilot?

I would say “do it!”.  It’s been a good experience so far and it hasn’t taken lots of resources or time.

I’m also keen to know how else we could use the point of care testing machine and whether it’s something that might be a good asset to the practice in the future.

We don’t get all that many opportunities in general practice to be involved in research if you’re not a dedicated research practice, so it’s something exciting and valuable to be involved in.

Get involved

If your GP practice in the West of England and would like to get involved in this programme please contact Rachel Gibbons, Programme Manager – rachel.gibbons10@nhs.net.

Read more about our cardiovascular disease (CVD) programme, including the roll out of Inclisiran.

Spotlight on Inclisiran

October was National Cholesterol Month, and our team have been busy hosting a series of lipid optimisation education sessions; launching the new Child Parent Screening pilot for Familial Hypercholesterolaemia; increasing adoption and spread of lipid optimisation pathways and preparing to roll out Inclisiran to complement current treatments. Read more about our Familial Hypercholesterolaemia (FH) and Lipid Optimisation programme.

In this blog, Clare Evans, Deputy Director of Service and System Transformation at the West of England AHSN, tells us more about Inclisiran and how local systems can get involved….

If you listen to the radio or read a newspaper it won’t be long before you hear the word ‘Cholesterol’. In my experience as a former nurse cholesterol can be seen as something only some of us have but we all have a level of cholesterol in our bodies. The question is whether each of our levels of cholesterol is ‘good’ or whether it’s high and could be doing us harm and lead to cardiovascular disease (CVD).

CVD is a health equity issue

CVD has been identified in the NHS Long Term Plan as the biggest single area where the NHS can save lives in the next ten years – 150,000 to be exact. Heart disease causes one in four deaths in England, and two in five people in England are thought to have high cholesterol. These stats make sobering reading. We also know that those living in areas of multiple deprivation are more likely to be affected by CVD. If we’re serious about tackling health inequity, CVD and cholesterol is one of the most significant areas to focus on.

Through the AHSN Network’s Lipid Optimisation and Familial Hypercholesterolemia (FH) programme we have been making significant progress in the West of England region. The programme includes working across our region’s three systems to increase the diagnosis and treatment of FH patients, including young people and children. Some of us may be pre-disposed to CVD because of FH – an inherited condition passed down in families. FH can lead to extremely high cholesterol levels. It affects 1 in 250 people in the UK, yet over 90% of cases are still undiagnosed. Our new pilot, also taking place across six other AHSN regions in England, will use a heel-prick test to identify FH in children and subsequently their families.

So where does Inclisiran come in?

Before now if a patient was on the maximum dosage of statins, had been prescribed Rapid Uptake Products such as ezetimibe or PCSK9i and their cholesterol levels were not decreasing, options were limited. But now Inclisiran can support these patients.

Inclisiran injections use a biological process where molecules can shut down protein translation to help the liver remove harmful low density lipoprotein cholesterol (which are often simply referred to as ‘bad cholesterol’) from the blood. Inclisiran can be used with statins or on its own.

In line with NICE guidance, Inclisiran won’t be available to all patients with high cholesterol and can only be prescribed if someone has had a CVD event such as a heart attack or stroke. Inclisiran provides a new option when other treatments are not working – it can reduce cholesterol levels by 50%.

Read more about Inclisiran and the partnership between the NHS and industry to tackle cardiovascular disease.

What’s next?

The Accelerated Access Collaborative are responsible for the implementation of the Inclisiran partnership. Now that Inclisiran is available to NHS patients in England, AHSNs, as the delivery partner, are working to ensure that the new treatment fits seamlessly within the lipids care pathway.

Locally we’ve therefore started conversations to discuss Inclisiran and how it complements the current lipid-optimisation pathway for a specific subset of patients. It’s our job at the AHSN to hear about any local barriers or challenges to Inclisiran uptake and work collaboratively with systems to try and remove these.

Inclisiran remains one part of the lipid optimisation pathway, so we’ll be complementing our ongoing programme, so all of those with CVD see benefits rather than ‘just’ those who will be able to receive Inclisiran.

We’re also working to ensure our systems are fully briefed on the Accelerated Access Collaborative’s revised lipid pathway (which is currently being developed).

How do I get involved?

If your work is related to CVD and lipids optimisation in the West of England region whether that be as an Integrated Care System lead, in a Trust, Primary Care Network, General Practice, pharmacy or as a local lipid specialist, please get in touch with me, clare.evans14@nhs.net or my colleague Rachel Gibbons, rachel.gibbons10@nhs.net so we can discuss how Inclisiran can be adopted by your organisation.

Read more about our Familial Hypercholesterolaemia (FH) and Lipid Optimisation programme.

In addition, there is a comprehensive cholesterol awareness and education campaign targeted at health care professionals involved in lipids management which can be accessed on the Heart UK website.