Real-world management of familial hypercholesterolemia in paediatric patients: a 3-year follow-up from the LIPIGEN registry

Background and aim: Familial hypercholesterolemia (FH) is a common genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) from early life, significantly increasing lifetime risk of atherosclerotic cardiovascular disease. Early identification and initiation of lipid-lowering therapy (LLT) are crucial. This study aimed to describe the timing, pharmacological approach, and early outcomes of LLT initiation in children and adolescents with FH from the Italian LIPIGEN registry. Methods: We analysed 341 paediatric FH patients who were untreated at baseline and had follow-up data within 3 years. Data included clinical features, LDL-C levels, genetic testing results, and treatment patterns. Outcomes included time to LLT initiation, type of therapy, LDL-C reduction, and achievement of guideline-recommended goals. Results: Mean age at baseline was 10.8 years. At the end of the first year of follow-up, 51.6% initiated LLT, increasing to 78.9% after 3 years (mean age at treatment initiation: 10.9 years), with earlier initiation among those with higher baseline LDL-C. Statins were the most used agents (43.9%), especially in children ≥8 years, followed by combination statin-ezetimibe (11.5%). Nutraceuticals were more common in children <8 years. LLT was associated with a mean LDL-C reduction of 25.7%, reaching 50.2% with statin-ezetimibe. Only 26.1% achieved LDL-C goals, with highest rates among those on combination therapy. Conclusions: Despite increased use of pharmacological therapy, therapeutic inertia remains common in paediatric FH, resulting in few children reaching recommended LDL-C targets. These findings highlight the need for earlier intervention, closer follow-up, and optimization of treatment strategies to improve long-term cardiovascular outcomes.