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Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

Melissa A Austin1, Carolyn M Hutter, Ron L Zimmern

  • 1Institute for Public Health Genetics and Department of Epidemiology, School of Public Health and Community Medicine, University of Washington, 1959 NE Pacific Avenue, Seattle, WA 98195, USA. maustin@u.washington.edu

American Journal of Epidemiology
|August 24, 2004
PubMed

Insights

Familial hypercholesterolemia (FH) is an inherited condition causing high cholesterol and early heart disease. Early diagnosis and treatment are crucial for managing atherosclerosis risk.

Area of Science:

  • Genetics
  • Cardiology
  • Biochemistry

Background:

  • Familial hypercholesterolemia (FH) is an autosomal dominant disorder.
  • Characterized by elevated total cholesterol and low-density lipoprotein cholesterol (LDL-C).
  • Associated with tendinous xanthomata and premature coronary heart disease (CHD).

Purpose of the Study:

  • To review the clinical phenotype, genetic basis, and diagnostic approaches for FH.
  • To emphasize the importance of early diagnosis and treatment for reducing atherosclerosis risk.
  • To highlight the cost-effectiveness and potential of cascade testing in FH management.

Main Methods:

  • Review of existing literature on FH genetics and clinical presentation.
  • Analysis of mutation data from the low-density lipoprotein receptor (LDLR) gene.
  • Discussion of diagnostic criteria and screening strategies for FH.

Main Results:

  • Over 700 variants identified in the LDLR gene.
  • FH is caused by mutations in LDLR, apolipoprotein B-100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes.
  • Geographic surveys reveal diverse mutations within populations, necessitating consistent clinical definitions.

Conclusions:

  • Early diagnosis of FH is beneficial for reducing atherosclerosis risk due to its response to drug treatment.
  • Cascade testing of FH family members is cost-effective and warrants further research.
  • Increased awareness among healthcare professionals regarding FH signs, diagnosis, and early treatment benefits is essential for successful screening.

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