Paediatric care for inherited cholesterol disorders: what needs to change?

Just 1% of children with familial hypercholesterolaemia have been identified and action is needed to improve care pathways after diagnosis.

26 April 2018, by Siobhan Chan

Child with mother in consultation with GP 

Every day, people across the UK are diagnosed with familial hypercholesterolaemia (FH), the inherited cholesterol disorder that substantially raises the risk of heart disease.

Each child of a person diagnosed with FH has a 50% chance of inheriting the condition. But what happens to these children in places where the provision of paediatric FH services is patchy?

The startling fact is that although 56,000 children are estimated to have FH, only around 600 have been identified. Clearly, there is a need for better diagnosis of this age group through cascade testing, while NICE guidance updated in November 2017 says statin treatment should be considered in children with FH.

This is because, by the age of 10-12, children with FH will have detectable atherosclerosis, according to Professor Steve Humphries, Emeritus Professor of Cardiovascular Genetics at University College London.

Speaking at a BHF and HEART UK-hosted workshop on the future of UK paediatric FH services held at The King’s Fund in London on 18 April 2018, Professor Humphries explained: “Around 50% of men with FH develop coronary heart disease by the age of 50, and 30% of women by the age of 60. It’s a condition that can significantly affect a person’s lifespan.”

Care pathways ‘not optimal’

But once children with FH are identified and diagnosed, what happens next?

Professor Huon Gray, National Clinical Director for Heart Disease at NHS England and Consultant Cardiologist at the University Hospital Southampton NHS Foundation Trust, said that FH sites set up using pump-priming investment by the BHF now cover around 30% of the population in England, with similarly supported services in other parts of the UK. It is encouraging that CCGs have continued to fund the work of FH specialist nurses at these sites, he said.

However, care pathways for children with FH remain far from optimal, he warned. “We need to tease out the barriers to better care of those who have been identified.”

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Dr Uma Ramaswami, Consultant in Inherited Metabolic Diseases at the Royal Free London NHS Foundation Trust, talked about the importance of clinicians adding consenting patients to the national paediatric FH register.

This allows researchers to investigate the effects of statins on these children. So far, they’ve shown that statins can reduce LDL cholesterol by 30-40% in one year, and demonstrated the safety of statins for children in the short term, although more data are needed for a longer-term study.

“Many parents have had concerns about effect of lifestyle changes on their child’s growth, but analysis of data from the register has shown that statins don’t significantly affect children’s growth rate,” said Dr Ramaswami.

Child-focused settings needed

Lorraine Priestley-Barnham, one of the first BHF-funded FH clinical nurse specialists, talked about requirements in NICE guidelines for a ‘child-focused setting’, in which the children are involved in decisions about their care.

“It doesn’t have to be in a specialist children’s hospital,” she said. ”It just means that professionals should communicate directly with children and young people, listen to them, and try to see the world through their eyes.”

What’s most important is that staff are trained in paediatrics, especially in safeguarding and taking consent for genetic testing, she said.

The NICE FH guideline needs more clarity on target cholesterol levels for children, she added, and that the lack of a target could feed the stigma surrounding statin use among physicians.

“We need to establish referral pathways between genetic testing clinics and secondary care – in some places, nurses have been unsure where to refer their newly identified patients,” she said. “Ultimately, genetic testing is futile, if we don’t have a good referral system.”


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