child screening programme

Familial hypercholesterolaemia (child)

Familial hypercholesterolaemia (FH) is a hereditary condition that causes very high cholesterol (fat) in the blood. This ‘bad’ cholesterol is called low density lipoprotein (LDL). This can build up in the blood vessels putting the person at risk of developing heart disease in their adult life. The cholesterol build-up usually starts during childhood.

The aim of a population screening programme would be to identify children who have inherited the condition.

This would lead to early diagnosis in children to then start treatment to stop them from developing heart disease when they get older. Treatment usually includes a healthy diet combined with medication, called statins, to help reduce cholesterol. Children with FH would start statin treatment from 10 years old.

UK NSC screening recommendation Based on the last UK NSC review of this condition that occurred in April 2020.

Screening is not currently recommended for this condition.

The 2019 evidence review found that there is still not enough evidence to recommend population screening for FH. This is because at present:

  • screening may benefit children with FH but it is not known whether this will result in the prevention of heart disease in later life
  • the age at which screening should take place is still not clear
  • there is UK research on screening in children aged 2 years; there is ethical concern about identifying children at this age because there is no recommended treatment for them
  • there is UK research on screening in children aged 9 years; these children are closer to the age where the treatment is clearer, but the study was small, and we need more research

Screening at any age would identify children with other causes of high cholesterol and there is no recommended treatment for these children.

An ethics task group was established in December 2020 to advise the UK NSC on ethical issues raised by screening children at different ages for evidence of familial hypercholesterolaemia in them and their families. A report of this group’s findings was published in February 2022 along with a blog article.

Supporting documents from the 2020 review

Evidence Summary FH in Children (2020)
This document provides the evidence on which the current UK NSC recommendation is based.

UK NSC coversheet & consultation responses Familial hypercholesterolaemia (2020)
This document summarises the review process including the public consultation comments.

Review cycle

Date previous review completed: 2020

Next review estimated to be completed: 2023 to 2024.

To see previous evidence reviews, visit the UK NSC archive.

Organisations interested in Familial hypercholesterolaemia (child)

These organisations have expressed interest in this recommendation and may submit responses to evidence reviews.

List of organisations

If you think your organisation should be added, please contact us.