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Updated: Jul 14, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Sex Differences in Familial Hypercholesterolemia.

Marianne Klevmoen1,2, Janneke W C M Mulder3, Jeanine E Roeters van Lennep3

  • 1Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

Current Atherosclerosis Reports
|October 10, 2023
PubMed
Summary
This summary is machine-generated.

This review highlights sex differences in familial hypercholesterolemia (FH), noting higher LDL-C in girls and women, later diagnosis, and less treatment for women, increasing cardiovascular risk. Lifelong, sex-specific management is crucial.

Keywords:
BreastfeedingCardiovascular diseaseCholesterolFamilial hypercholesterolemiaPregnancySex differences

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Area of Science:

  • Cardiovascular Research
  • Genetics and Disease
  • Endocrinology and Metabolism

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-C levels.
  • Sex-based disparities in FH diagnosis and management are increasingly recognized.
  • Understanding lifelong sex differences in FH is critical for cardiovascular health.

Purpose of the Study:

  • To review existing research on sex differences in familial hypercholesterolemia (FH) throughout life.
  • To identify sex-specific patterns in cholesterol levels, diagnosis, and treatment.
  • To highlight the impact of female life stages on FH management and cardiovascular risk.

Main Methods:

  • Systematic literature review of studies on sex differences in FH.
  • Analysis of data on lipid levels, diagnosis age, and treatment adherence by sex.
  • Synthesis of findings related to cardiovascular disease risk in male and female FH patients.

Main Results:

  • Girls with FH have higher LDL-C than boys from childhood.
  • Women experience a greater LDL-C burden by age 30 and are diagnosed later than men.
  • Female FH patients receive less lipid-lowering treatment, leading to higher LDL-C and increased cardiovascular risk, especially during pregnancy and breastfeeding.

Conclusions:

  • Earlier and lifelong, sex-specific treatment initiation is vital for girls and women with FH.
  • Future research must report sex-specific data and investigate the female life course impact.
  • Guidelines should incorporate sex-specific considerations for optimal FH management and cardiovascular outcomes.