Calls to test babies for gene fault that makes cholesterol rocket from birth – which affects 270,000 Britons including 60,000 children
Toddlers with a common genetic fault may have 'hidden' cholesterol levels that are twice the normal healthy limit for an adult, putting them at risk of heart attacks and strokes at a young age.
The surprising finding has led to renewed calls to screen all babies for the condition, in an effort to prevent deaths and disability.
About 270,000 people in Britain, including 60,000 children, have familial hypercholesterolemia, or FH, which causes cholesterol levels to skyrocket almost from birth.
But 90 percent are unaware of it because it often causes no symptoms. If left untreated, patients can die before middle age, and some suffer heart attacks during childhood.
Campaigners argue that giving infants a cholesterol test as early as 10 days after birth is an effective way to raise awareness of the problem. Young people with severe levels may be offered exams to confirm a diagnosis, as well as cholesterol-lowering statins and lifestyle advice.
TRAGEDY: Rianna Wingett, left, who died at age 11, with sister Rebecca
Outwardly healthy, Rianna collapsed on the playing fields of her school in Hornchurch, London, and an autopsy revealed she had cholesterol levels four times normal.
But health chiefs have so far rejected proposals to test newborns, claiming there was not enough evidence it was necessary. The researchers behind the new findings, published earlier this month, say the data proves otherwise.
“Our current approach to diagnosing FH is not working,” says Prof. Kausik Ray, consultant cardiologist at Imperial College London and one of the study authors. 'This is a preventable disease, but without a screening program we will always be playing catch-up and will only notice FH once the heart problems have started.'
Experts have accused the government body, the National Screening Commission, of inaction in the face of the thousands of deaths. Jules Payne, chief executive of the charity Heart UK, said: 'The committee must now reconsider its position.'
Prof David Wald, consultant cardiologist at Barts Health NHS Trust and one of the country's leading FH experts, has also branded the decision not to support screening as 'bizarre' and 'a mistake'. He says: 'Screening of children and parents will prevent significant deaths and diseases. The National Screening Commission must acknowledge that it made a mistake and reverse the decision.”
FH is usually noticed in adults during routine cholesterol tests 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 determine whether the cause is genetic. If FH gene errors are found, immediate family members, including children, are also tested.
Treatment includes statins and a drug called inclisiran. The injection twice a year can halve cholesterol levels within a few weeks.
However, this detection method – which experts called “opportunistic screening” – fails to identify thousands of patients before they develop significant heart disease.
A tragic example is the case of Rianna Wingett, who died of a heart attack at the age of eleven. Outwardly healthy, she collapsed on the playing fields of her school in Hornchurch, London, and an autopsy revealed her cholesterol levels were four times normal. .
Research shows that FH patients are not usually diagnosed until the age of 44, and one in five show signs of heart disease at that time. Currently, even with treatment, FH shortens life expectancy by approximately 20 years. But experts believe this could be reversed if the condition is caught before cholesterol has had time to build up in the arteries.
About 270,000 people in Britain, including 60,000 children, have familial hypercholesterolemia, or FH, which causes cholesterol levels to skyrocket almost from birth
In 2016, a pilot project in London involving more than 10,000 babies picked up twice as many at-risk children than predicted. Researchers identified FH in some children using a simple heel prick blood test at 13 months – about the same time 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' whether detecting FH in childhood 'would result in the prevention of heart disease later in life'.
The committee also argued that there were 'ethical concerns' about diagnosing children as young as two years old because there is 'no recommended treatment for them'.
But the new study, published in The Lancet, concludes that there is a need to identify babies with FH.
Researchers found that most children diagnosed with FH by age two or three had dangerously high levels of LDL, or “bad” cholesterol. The NHS considers an LDL score above three to be unhealthy for adults. The average healthy baby has a score of around 0.5 – but the Lancet article found that almost two-thirds of children with FH had an LDL score of almost six.
The study even found that children had an LDL score as high as 12.
'Some had incredibly high cholesterol levels before they could even walk or talk,' says Prof Ray. 'This means that some of them may develop heart problems in their twenties and thirties.
'This is a serious genetic condition that needs to be treated with medication as soon as possible. Safety data shows that there are cholesterol-lowering medications that young children can take, including statins.
'There is no point in delaying the diagnosis and treatment of patients.'
A spokesperson for the Department of Health and Social Care said: 'The National Screening Committee examined the evidence for testing very young children and decided that, as 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.”