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
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. The group will report its findings in summer 2021.
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.
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
- AntiCoagulation Europe
- British Cardiovascular Society
- British Heart Foundation
- British Inherited Metabolic Disease Group
- Cardiac Risk in The Young
- Cardiomyopathy UK
- Cardio & Vascular Coalition
- Children's Heart Federation
- Circulation Foundation
- Faculty of Public Health
- Genetic Alliance UK
- HEART UK
- Institute of Child Health
- Metabolic Support UK
- Royal College of General Practitioners
- Royal College of Nursing
- Royal College of Paediatrics and Child Health
- Royal College of Physicians
- Royal College of Physicians and Surgeons of Glasgow
- Royal College of Physicians of Edinburgh
- UK Genetic Testing Network
- Wolfson Institute of Preventive Medicine
If you think your organisation should be added, please contact us.