Key result
Early lipid-lowering therapy and diet improve lipid profiles and regress xanthomas in pediatric familial hypercholesterolemia.
Why the study?
Familial hypercholesterolemia remains underdiagnosed in pediatric practice despite its significant long-term cardiovascular risk and variable clinical presentations.
Does early dietary and pharmacological intervention improve lipid profiles and clinical outcomes in pediatric patients with familial hypercholesterolemia?
Case Report (n=4)
No
Does early dietary and pharmacological intervention improve lipid profiles and clinical outcomes in pediatric patients with familial hypercholesterolemia?
Early detection and aggressive individualized management of familial hypercholesterolemia in infants and children successfully reduces extreme lipid levels and reverses clinical manifestations.
May support early intervention in select pediatric familial hypercholesterolemia cases; hypothesis-generating and requires confirmation in prospective trials.
Objective. To highlight the clinical presentation, diagnosis and management of familial hypercholesterolemia (FH) in children through a pediatric case series. Materials and method. Four pediatric patients with suspected or confirmed FH were evaluated in a tertiary pediatric center in Romania. Clinical examination, lipid profile assessment, family history and genetic testing in selected cases were used for diagnosis and follow-up. The management included dietary intervention, lifestyle modification and lipid-lowering therapy when indicated. Results. The cases demonstrated variable clinical presentations, from asymptomatic dyslipidemia to severe forms associated with xanthomas, hepatomegaly and markedly elevated LDL cholesterol levels. Early dietary intervention improved lipid profiles in all patients, while pharmacological treatment achieved additional reductions in severe cases. The long-term follow-up showed a favorable clinical evolution, with sustained adherence to treatment. Conclusions. Familial hypercholesterolemia remains underdiagnosed in pediatric practice, despite its significant long-term cardiovascular risk. Early recognition, family screening and timely therapeutic intervention are essential to improve outcomes and reduce the future cardiovascular morbidity.
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Gherghina et al. (2026) conducted a case report in Familial hypercholesterolemia (n=4). Dietary intervention and lipid-lowering therapy was evaluated on Lipid profile improvement and clinical resolution (e.g., xanthoma regression). Early dietary intervention and age-appropriate pharmacological lipid-lowering therapy improved severe lipid profiles and led to the regression of xanthomas in pediatric patients with familial hypercholesterolemia.
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