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Prevention of Atherosclerotic Cardiovascular Disease in Children with Familial Hypercholesterolemia

  • Cardiovascular Disease and Stroke (J.A. Underberg and J. Newman, Section Editors)
  • Published:
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Purpose of Review

Familial hypercholesterolemia (FH), a common inherited disorder of LDL-C metabolism that predisposes to premature cardiovascular disease, is underdiagnosed. Despite recommendations for screening all children and initiation of lipid-lowering medication beginning at 8–10 years of age, adherence to guidelines is low. Most individuals with FH are inadequately treated, especially women and children. The purpose of this review is to discuss current literature and recommendations for the diagnosis and treatment of heterozygous FH (HeFH) in the pediatric population.

Recent Findings

Twenty-year outcome data demonstrate lower rates of atherosclerotic cardiovascular disease (ASCVD) related events and death in individuals with FH who were treated with statins from childhood, compared to those who initiated statins in adulthood. While diagnosis rates of FH are slowly improving, most clinicians do not adhere to recommendations for cholesterol screening in youth.


Identifying youth with FH offers the opportunity for early intervention to prevent ASCVD and identify affected relatives through reverse cascade screening.

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Correspondence to Amy L. Peterson.

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Conflict of Interest

Amy L. Peterson is serving on the steering committee for the ORION-13 and ORION-16 trials (sponsored by Novartis Pharmaceuticals) (payments are made to her institution); she is on the Scientific Advisory Committee for Familial Hypercholesterolemia Foundation (unpaid); and she is an AHOY Committee member for the American Heart Association (unpaid) and the Health Quality and Research Committee for the National Lipid Association (unpaid), and on the Board of Directors for the American Board of Clinical Lipidology (unpaid). Catherine J. McNeal is on the Speaker’s Bureau for Novo Nordisk. Don P. Wilson reports no disclosures.

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Peterson, A.L., McNeal, C.J. & Wilson, D.P. Prevention of Atherosclerotic Cardiovascular Disease in Children with Familial Hypercholesterolemia. Curr Atheroscler Rep 23, 64 (2021).

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