Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents

and The Mighty Medic Satellite Research Group for Pediatric Dyslipidemia

Research output: Contribution to journalReview articlepeer-review

Abstract

Purpose of Review: To elucidate the current approach of care in pediatric patients with familial hypercholesterolemia (FH). We sought an answer to the question whether the advances and major changes in lipid management are relevant and apply to children and adolescents. Recent Findings: Latest research findings clearly demonstrate that lowering cholesterol levels at a young age prevents vascular atherosclerotic changes and decreases cardiovascular events in adulthood and emphasizes the importance of early detection and intervention in the pediatric FH patients group. Summary: FH is a common genetic disease caused by mutations in genes associated with the metabolism of low-density lipoproteins (LDL). The hallmark of FH is elevated LDL cholesterol (LDL-C) levels from birth and premature atherosclerotic cardiovascular disease (ASCVD). Often FH is either undiagnosed or diagnosed with a considerable delay, leading to vascular atherosclerotic changes and cardiovascular disease. Prompt identification of FH subjects is essential, to initiate early preventive measures. Safe and efficient pharmacological agents are approved for use in children and adolescents. Statins are the first line of therapy, in combination of ezetimibe. Unfortunately, these drugs do not warrant the achievement of therapeutic target, especially in HoFH patient. In the latter, lipoprotein apheresis (LA), which has been shown to be safe and effective, is strongly recommended. Finally, the new drugs still under study will allow a multimodal customized treatment. Lowering cholesterol levels at a young age hinders vascular atherosclerotic changes decreasing cardiovascular events in adulthood. Therefore, early detection, diagnosis, and intervention in FH patients are priority objectives.

Original languageEnglish
Article number30
JournalCurrent Atherosclerosis Reports
Volume23
Issue number6
DOIs
StatePublished - Jun 2021

Keywords

  • Lipoprotein apheresis
  • Lomitapide
  • Low-density lipoprotein cholesterol
  • Pediatric homozygous-heterozygous familial hypercholesterolemia
  • Proprotein convertase subtilisin/kexin type 9
  • Statin

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