Early detection of FH in children

It is crucial to increase the detection rate of FH and diagnose FH at lower ages to lower the lifelong exposure to high LDL-C and reduce the risk of cardiovascular disease. We recommend that every country establish a paediatric FH screening programme, tailored to local healthcare resources and conditions, and aligned with the European Commission’s Safe Hearts Plan.

Ideally, HoFH should be diagnosed at birth to allow early intervention. HeFH should be identified within the first decade of life to support healthy habits, encourage adherence to drug treatment and enable earlier identification of relatives with FH through cascade testing. When using cholesterol as the first measure to diagnose FH, screening performance is optimal between the ages of 1 and 9 years.

Paediatric FH screening programmes

Paediatric FH screening programmes use one or more of the strategies shown in the boxes below:

Cascade screening	Universal screening	Opportunistic testing	Selective screening
Relatives of an individual diagnosed with a genetically confirmed FH variant undergo genetic testing for this specific variant	All children at a pre-defined age undergo blood lipid screening (and preferably subsequent genetic testing in those with high LDL-C), regardless of other risk factors	Tests are offered to children and adolescents during unrelated healthcare visits	High-risk groups (for example, children with parents or grandparents with premature cardiovascular disease) are targeted for testing

The Netherlands pioneered national cascade screening, which has proven cost-effective, and similar programmes exist in Norway and the Czech Republic. Slovenia was the first country to establish a universal screening programme. Total cholesterol is measured in all children at ages 5–6 years. This is followed by genetic testing in those children considered at risk and cascade testing of parents and siblings of a child diagnosed with FH. Universal screening has been piloted elsewhere, but its cost-effectiveness is influenced by country-specific healthcare systems.

Lithuania has introduced opportunistic testing plus cascade screening. Italy and Portugal use a combination of selective and cascade screening. In the UK, universal screening at 12 months has been trialled, but has not been approved for national roll-out; cascade testing from adult probands is in use.

In 2022, the FH European Community published a call for action in the Prague Declaration to encourage all European countries to adopt FH paediatric screening as part of European and national strategies to prevent premature atherosclerotic cardiovascular disease and to promote cardiovascular health.

Newborn screening

Newborn screening programmes for rare but treatable diseases are established in most countries. Adding FH to these programmes could offer an opportunity for early detection of FH. It would be particularly important to identify babies with HoFH and to help detect FH in other family members in whom treatment can be started immediately. However, challenges remain, including variability in cholesterol concentrations at birth and the potential for over- or underdiagnosis. Ongoing studies are investigating which diagnostic marker would be best. Although genetic testing of FH in newborns shows promise, it can also detect variants of unknown significance or with a mild phenotype, complicating clinical management. Robust systems for confirmatory testing and follow-up are needed before newborn FH screening can become standard practice.