Children with heterozygous familial hypercholesterolaemia: routine lipoprotein(a) testing, earlier PCSK9 access, and pragmatic cascade screening

Abstract

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This correspondence refers to ‘Management of children with heterozygous familial hypercholesterolaemia worldwide: a meta-analysis’, by I. Bytyçi et al., https://doi.org/10.1093/ehjopen/oeaf001.

I read with great interest the meta-analysis by Bytyçi et al. on the management of children with heterozygous familial hypercholesterolaemia (HeFH). The authors synthesize evidence on lipid-lowering therapy efficacy, safety, and goal attainment, providing timely confirmation that intensive LDL-cholesterol (LDL-C) reduction is both achievable and well tolerated in paediatric practice. Their work reinforces the importance of treatment escalation when LDL-C targets are not achieved.^1^

Building on these findings, I propose three practical refinements that could further strengthen routine care pathways for children with HeFH: (i) incorporation of lipoprotein(a) [Lp(a)] testing into baseline assessment, (ii) earlier consideration of PCSK9 inhibitors in selected children, and (iii) systematic cascade screening centred on the family unit.

Operationalizing in practice.

A practical model for paediatric lipid clinics would be the following: (i) add a one-time Lp(a) to the initial lipid panel; (ii) adopt a stepped ‘treat-to-target’ ladder: statin → statin plus ezetimibe → PCSK9 inhibitor if goals remain unmet; and (iii) implement structured cascade workflows with clear roles and responsibilities. Embedding concise counselling on adherence, lifestyle, and reproductive risk during adolescence would further support safe and sustained lipid management.

In summary, the meta-analysis by Bytyçi et al. consolidates the evidence for effective and safe LDL-C reduction in paediatric HeFH. Building on this strong foundation, introducing routine Lp(a) testing, enabling earlier access to PCSK9 inhibitors for selected children, and formalizing cascade screening can help accelerate target attainment, reduce lifetime LDL burden, and empower families in the care process.