Elsevier

American Heart Journal

Volume 168, Issue 6, December 2014, Pages 807-811
American Heart Journal

Editorial
Reducing the burden of disease and death from familial hypercholesterolemia: A call to action

https://doi.org/10.1016/j.ahj.2014.09.001Get rights and content

Familial hypercholesterolemia (FH) is a genetic disease characterized by substantial elevations of low-density lipoprotein cholesterol, unrelated to diet or lifestyle. Untreated FH patients have 20 times the risk of developing coronary artery disease, compared with the general population. Estimates indicate that as many as 1 in 500 people of all ethnicities and 1 in 250 people of Northern European descent may have FH; nevertheless, the condition remains largely undiagnosed. In the United States alone, perhaps as little as 1% of FH patients have been diagnosed. Consequently, there are potentially millions of children and adults worldwide who are unaware that they have a life-threatening condition. In countries like the Netherlands, the United Kingdom, and Spain, cascade screening programs have led to dramatic improvements in FH case identification. Given that there are currently no systematic approaches in the United States to identify FH patients or affected relatives, the patient-centric nonprofit FH Foundation convened a national FH Summit in 2013, where participants issued a “call to action” to health care providers, professional organizations, public health programs, patient advocacy groups, and FH experts, in order to bring greater attention to this potentially deadly, but (with proper diagnosis) eminently treatable, condition.

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Disclosures

Dr Knowles, Dr O'Brien, Ms Greendale, Ms Wilemon, Dr Genest, Dr Sperling, and Dr Khoury have no relevant disclosures to report. Dr Rader reports consulting for Aegerion, Alnylam, and Sanofi (all modest) and investing on a patent licensed by Penn to Aegerion (significant). Dr Neal has no disclosures.

Dr Knowles had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.

Disclaimer

The findings and conclusions in this report are those of the authors and do not represent the official position of the Centers for Disease Control and Prevention or the US Department of Health and Human Services.

Sources of Funding

There are no sources of funding to report.

Acknowledgements

We would like to thank Debra Duquette, MS, CGC from Michigan Department of Community Health, Lansing, MI for helpful comments.

References (42)

  • B.G. Nordestgaard et al.

    Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

    Eur Heart J

    (2013)
  • Z. Reiner et al.

    ESC/EAS Guidelines for the management of dyslipidaemias: the Task Force for the management of dyslipidaemias of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS)

    Eur Heart J

    (2011)
  • N.J. Stone et al.

    Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia

    Circulation

    (1974)
  • N. Stitzel et al.

    Exome sequencing identifies rare alleles contributing to the inherited basis of early-onset myocardial infarction. Abstract presented at: American Heart Association Scientific Sessions; November 16-20, 2013; Dallas, TX

    Circulation

    (2013)
  • A.S. Go et al.

    Heart disease and stroke statistics—2013 update: a report from the American Heart Association

    Circulation

    (2013)
  • M. Benn et al.

    Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication

    J Clin Endocrinol Metab

    (2012)
  • M.A. Austin et al.

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

    Am J Epidemiol

    (2004)
  • H.H. Hobbs et al.

    The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

    Annu Rev Genet

    (1990)
  • C.J. Willer et al.

    Discovery and refinement of loci associated with lipid levels

    Nat Genet

    (2013)
  • E. Youngblom et al.

    Familial hypercholesterolemia

  • M.D. Carroll et al.

    Total and high-density lipoprotein cholesterol in adults: National Health and Nutrition Examination Survey, 2011-2012

    NCHS Data Brief

    (2013)
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