European Atherosclerosis Society consensus statement on familial hypercholesterolaemia (FH) in children and adolescents. Heterozygous FH affects about 1 in 300 worldwide; homozygous FH about 1 in 300,000. Early diagnosis and treatment in childhood can normalise life expectancy, but underdiagnosis and undertreatment remain major challenges. The statement provides: (1) a call for all countries to establish paediatric FH screening programmes; (2) revised diagnostic criteria because current ones often miss genetically confirmed cases; (3) updated LDL-C treatment goals; (4) guidance to start lipid-lowering therapy in HeFH before puberty and in HoFH from age 6 where needed; (5) treatment algorithms and recommendations for smooth transition to adult care.
Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by lifelong elevated LDL cholesterol (LDL-C) concentrations. FH exists in two forms: heterozygous FH (HeFH), which affects around 1 in 300 people worldwide, and homozygous FH (HoFH), which affects around 1 in 300 000. Individuals with FH are at increased risk of premature atherosclerotic cardiovascular disease (ASCVD) and death, and those with 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. Updated LDL-C treatment goals are proposed, and the importance of starting LLTs before puberty in children with 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 consensus statement are crucial to improving life expectancy for children and adolescents with FH.
