What is the reason for and aim of the publication?
Individuals with familial hypercholesterolaemia (FH) are at increased risk of premature atherosclerotic cardiovascular disease (ASCVD) and death, and those with homozygous FH (HoFH) are, if untreated, at extreme risk of ASCVD manifestations even before adulthood.
Early diagnosis and treatment in childhood can extend or normalize life expectancy, but limited awareness, underdiagnosis, and undertreatment remain major challenges. This consensus statement aims to address these challenges, supported by increased knowledge of the pathogenesis of FH and the availability of an increasing range of lipid-lowering therapies (LLTs) that can be used from early ages. To increase the detection rate of FH, all countries are encouraged to establish a paediatric screening programme and, given that current diagnostic criteria often fail to identify children with an FH-causing genetic variant, revised diagnostic criteria are presented (in 2025 Poland started a universal screening programme at age 6, and last week France started a universal screening programme at age 6).
Updated LDL-C treatment goals are proposed, and the importance of starting LLTs before puberty in children with heterozygous FH (HeFH), and, if needed, from 6 years, is highlighted. Guidance on how to manage FH is provided, including treatment algorithms for use in children with either HeFH or HoFH and a discussion on how to promote a smooth transition to adult care. Early detection and optimal treatment as advocated in this statement are crucial to improving life expectancy for children and adolescents with FH.
What are the most important take-home messages?
- Children should be diagnosed in the first decade of life to be treated early in life.
- The majority of HeFH and all HoFH children and adolescents require lipid-lowering therapy a) in order to reduce their life-long LDL-cholesterol burden and b) to delay the onset of atherosclerotic cardiovascular disease.
- We now have effective therapies –
the earlier the better,
the lower the better,
the longer the better.
What are the challenges in practical implementation – and possible solutions?
In the early detection and treatment of FH, Bavaria and Lower Saxony are far ahead of other regions in Germany and even of other countries. The future of children with FH cannot depend on the enthusiasm of a few regional specialists.
Which issues still need to be tackled that are not yet addressed by the paper?
- Thresholds in imaging for excessive subclinical atherosclerosis.
- Cost-effectiveness studies to compare screening strategies.
- More reliable tools to be used for newborn screening.
- Include FH in genomic newborn screening studies.
- Demonstrate the benefit of polygenic risk scores in children.
- Effectiveness of a cholesterol-lowering diet on ASCVD incidence and mortality.
- Examine the combined risk of FH and elevated Lp(a) in childhood.
What further developments on the topic are emerging?
Not only detection in the first decade of life, but also implementation of new treatment goals, remain challenging.
Familial hypercholesterolaemia in children and adolescents
Wiegman A, Bourbon M, Freiberger T, et al. Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement. Eur Heart J. 2026;47(26):3324-3346. https://doi.org/10.1093/eurheartj/ehag382
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