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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Published on: September 15, 2018

Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement

Albert Wiegman1,2,3, Mafalda Bourbon4,5, Tomas Freiberger6

  • 1Department of Paediatrics, Amsterdam University Medical Center, Location AMC, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

European Heart Journal
|May 25, 2026
PubMed

Insights

Familial hypercholesterolaemia (FH) is a genetic disorder causing high LDL cholesterol. Early detection and treatment in children, including revised criteria and updated goals, are crucial for preventing premature cardiovascular disease and improving life expectancy.

Area of Science:

  • Cardiovascular Genetics
  • Pediatric Endocrinology
  • Lipid Metabolism

Background:

  • Familial hypercholesterolaemia (FH) is a prevalent genetic disorder causing lifelong high LDL cholesterol (LDL-C).
  • FH presents as heterozygous (HeFH, ~1 in 300) or homozygous (HoFH, ~1 in 300,000), significantly increasing premature atherosclerotic cardiovascular disease (ASCVD) risk.
  • Despite available lipid-lowering therapies (LLTs), challenges persist due to limited awareness, underdiagnosis, and undertreatment, particularly in childhood.

Purpose of the Study:

  • To address challenges in FH detection and management through a consensus statement.
  • To present revised diagnostic criteria and updated LDL-C treatment goals for children with FH.
  • To provide guidance on managing FH in children, including treatment algorithms and transition to adult care.

Main Methods:

  • Review of current knowledge on FH pathogenesis and LLTs.
  • Development of revised diagnostic criteria to improve identification of genetic variants.
  • Proposal of updated LDL-C treatment goals and initiation timing for pediatric FH patients.

Main Results:

  • Emphasis on establishing pediatric screening programs to increase FH detection rates.
  • Revised diagnostic criteria are presented to better identify children with FH-causing genetic variants.
  • Updated LDL-C treatment goals and recommendations for starting LLTs before puberty (or from age 6 if needed) are proposed.

Conclusions:

  • Early diagnosis and treatment of FH in childhood are critical for normalizing life expectancy.
  • Implementing pediatric screening and revised diagnostic criteria can improve FH detection.
  • Optimal management, including timely LLT initiation and transition to adult care, is essential for improving outcomes in children and adolescents with FH.

Keywords:
AdolescentsCardiovascular riskChildrenCumulative low-density lipoprotein cholesterol exposureFamilial hypercholesterolaemiaLipid-lowering therapy

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