Thousands of children have undetected inherited high cholesterol – we must do more to identify them

Clinicians and commissioners have a vital part to play in ensuring we reduce the chance of many children with familial hypercholesterolaemia developing cardiovascular disease prematurely in later life.

30 May 2018, by Jenny Hargrave

Child having blood test done 


Tens of thousands of children in the UK have a genetic condition that leaves them at much greater risk of stroke or heart attack. We urgently need to do more to identify them and offer treatment to lower their risk.

These children have familial hypercholesterolaemia (FH), an inherited condition in which blood cholesterol levels are so high that the risk of a major cardiovascular event is greatly increased.

Out of the 56,000 children in the UK thought to have FH, only 600 have received a formal diagnosis.

This low diagnosis rate means many children are not receiving easily available treatment that could reduce their chance of death or disability in later life.

The sooner we identify these children and treat them appropriately, the greater the chance of a normal life expectancy.

Statins safe for children

Even when children with FH are diagnosed, only half receive statin therapy to mitigate their cardiovascular disease risk1, contrary to NICE guidance updated last year that recommends all these children are considered for statin therapy2.

The misconception that statins are not safe for use in children needs to end. 

We’ve shown, through BHF-funded research, that statins are safe for children with FH3.

Without treatment, these children will start to accumulate fatty plaque in their arteries before the age of 10. Treating them with statins not only prevents this build-up, but can reverse it3.

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Cost-effective cascade testing

It starts with identifying and diagnosing FH in adults with high cholesterol. Parents, siblings and children of those with FH possess a 50% chance of having the condition. Diagnosing them and extending routine genetic testing to other family members enables children to be tested and identified early.

We also encourage clinicians working with children with FH to register them onto the paediatric FH register.

NICE’s FH guidance recommends that children of two parents with FH should have their LDL cholesterol measured before the age of five, and children with one affected parent should be tested before the age of 10.

Cascade testing is straightforward and cost effective, but roll-out across the country is patchy. The BHF has funded several FH testing sites across the UK, all of which have, or are developing, paediatric services.

If you’re a commissioner, consider what more you could do with colleagues to establish, streamline or signpost the FH services in your region.

By identifying these children early, we can start them on a path to treatment that will lead to longer, healthier lives.

Jenny Hargrave is Director of Innovation in Health and Wellbeing at the BHF.

For more on FH, take a look at our guide to planning and delivering FH services

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  1. Humphries et al. (2018) The UK Paediatric Familial Hypercholesterolaemia Register: Statin-related safety and 1-year growth data. Journal of Clinical Lipidology https://doi.org/10.1016/j.jacl.2017.11.005
  2. NICE Clinical Guideline (2017) Familial hypercholesterolaemia: identification and management https://www.nice.org.uk/guidance/cg71
  3. Weigman et al. (2004) Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial, JAMA https://doi.org/10.1001/jama.292.3.331