Calls to test babies for gene fault that makes cholesterol rocket from birth

• Calls to test toddlers for hypercholesterolaemia, which affects 60k children
• Rianna Wingett died of heart attack aged just 11 despite being outwardly healthy

Toddlers with a common genetic fault can have ‘hidden’ cholesterol levels twice the normal healthy limit for an adult, putting them at risk of heart attacks and strokes early in life.

The startling finding has spurred renewed calls to screen all babies for the condition in a bid to prevent deaths and disability.

About 270,000 people in the UK, including 60,000 children, have familial hypercholesterolaemia, or FH, which causes cholesterol levels to rocket almost from birth.

But 90 per cent are unaware as it often doesn’t cause symptoms. If left untreated it can kill patients before middle age, and some suffer heart attacks during childhood.

Campaigners argue that giving infants a cholesterol test as early as ten days after birth is an effective way to flag-up the problem. Youngsters with severe levels may be offered exams to confirm a diagnosis as well as cholesterol-lowering statins and lifestyle advice.

But health chiefs have so far rejected proposals to test newborns, claiming there wasn’t enough evidence it was needed. The researchers behind the new findings, published earlier this month, say the data proves otherwise.

‘Our current approach to diagnosing FH isn’t working,’ says Prof Kausik Ray, consultant cardiologist at Imperial College London and one of the study’s authors. ‘This is a preventable disease, but without a screening programme in place we will always be playing catch-up, only spotting FH once heart problems have begun.’

Experts have accused Government body the National Screening Committee of inaction in the face of thousands of deaths. Jules Payne, chief executive of the charity Heart UK says: ‘The committee should reconsider its position now.’

Prof David Wald, a consultant cardiologist at Barts Health NHS Trust and one of the country’s leading FH experts, has also labelled the decision not to back screening ‘bizarre’ and ‘a mistake’. He says: ‘Child-parent screening will prevent considerable death and disease. The National Screening Committee needs to recognise it made a mistake and reverse the decision.’

FH is usually picked up in adults during routine cholesterol testing or after a heart attack. A very high cholesterol level is the primary indicator, but patients may then be offered a DNA blood test to check if the cause is genetic. If FH gene faults are found, direct relatives, including children, are tested, too.

Treatment includes statins and a drug called inclisiran. The twice-a-year injection can cut cholesterol levels in half in a matter of weeks.

However, this method of detection – which experts called ‘opportunistic screening’ – fails to identify thousands of patients before they develop significant heart disease.

One tragic example is the case of Rianna Wingett, who died of a heart attack aged just 11. Outwardly healthy, she collapsed on the playing fields of her school in Hornchurch, London, and a postmortem revealed she had cholesterol levels four times the normal limit.

Research suggests FH patients are not usually diagnosed until the age of 44, and one in five show signs of heart disease by this point. At present, even with treatment, FH shortens life expectancy by about 20 years. But experts believe this could reversed if the condition is spotted before cholesterol has time to build up in the arteries.

In 2016, a London pilot scheme involving more than 10,000 babies picked up twice as many at-risk children than was predicted. Researchers identified FH in some children using a simple heel-prick blood test at 13 months – roughly the same time that children receive their first round of vaccinations.

But in 2020, the National Screening Committee decided not to recommend FH screening. It argued that it was ‘not known’ if spotting FH in childhood would ‘result in the prevention of heart disease later in life’.

The committee also argued there was an ‘ethical concern’ about diagnosing children as young as two because there is ‘no recommended treatment for them’.

But the new study, published in The Lancet, concludes there is a need to identify infants with FH.

Researchers found that most children diagnosed with FH by the age of two or three had dangerously high levels of LDL, or ‘bad’ cholesterol. The NHS considers an LDL score above three unhealthy for adults. The average healthy infant has a score around 0.5 – but the Lancet paper found nearly two-thirds of children with FH had an LDL score close to six.

The study even found children with LDL scores as high as 12.

‘Some had incredibly high levels of cholesterol before they could even walk or talk,’ says Prof Ray. ‘This means that some of them could experience heart problems in their twenties and thirties.

‘This is a serious genetic condition which needs to be treated with medication as soon as possible. Safety data shows there are cholesterol-lowering drugs that young children can take, including statins.

‘It doesn’t make sense to put off diagnosing and treating patients.’

A Department of Health and Social Care spokesman said: ‘The National Screening Committee examined the evidence for testing very young children and decided that, since that evidence was incomplete, it could not recommend a screening programme. No further evidence has been provided to change that position, but the Committee stands ready to review any update to the evidence base.’