Research we funded shows that around 60 per cent of children over the age of ten affected by the inherited condition familial hypercholesterolaemia (FH), are treated successfully with statins.
The initial findings of the study, published in the BMJ Archives of Diseases in Childhood, show that cholesterol-lowering statins have proved to be an effective treatment, allaying some of the concerns among medics about prescribing the treatment to children.
Tens of thousands with dangerous inherited condition
Around 50,000 children could be living with FH, but currently only around one per cent of these children has been identified.
Children with FH have high levels of LDL cholesterol, so called ‘bad cholesterol’, from birth, and a higher future risk of early coronary heart disease, which can cause heart attacks if the condition is left untreated.
A parent with FH has a 50 per cent chance of passing it on to their child, which is why it is important that FH families have access to genetic cascade testing.
Thanks to the generosity of our supporters, we have funded BHF Professor Steve Humphries' research that led to life saving genetic tests for FH. Find out more about how your donations have saved lives.
Lower cholesterol levels
Despite the National Institute for Health and Care Excellence (NICE) guidelines on FH (2008) recommendation that children with FH should be treated with statins to lower their cholesterol, there is reluctance among some clinicians to start statins in childhood due to concerns about their long-term safety.
The Children’s FH Register was established in 2012 in order to collect anonymised data on all children with FH in the UK and address these concerns.
To date, the register has baseline data on the first 232 children registered. Eventually it’s hoped the register will provide more comprehensive long-term data on the effects of statin treatment on children with FH.
Genetic cascade testing is key
Dr Mike Knapton, our Associate Medical Director, said:
"Thanks to research it is now possible to test for this genetic condition and while there isn’t currently a cure for FH, it can be treated successfully.
Find out how research we funded has been key to stopping some of the avoidable tragedies caused by deadly inherited heart conditions.
"We have funded genetic cascade specialist nurses in England and Wales, where you and your family can take a simple blood test to determine if you have the underlying genetic mutation that causes FH.
"The FH register helps us understand the benefits and safety of early statin treatment.
"Genetic testing is key to making an accurate diagnosis, the lack of availability of such tests in some parts of the country is a limiting factor."
Download our FH Quick Guide booklet