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Reducing the burden of disease and death from familial hypercholesterolemia: a call to action.

Publication ,  Journal Article
Knowles, JW; O'Brien, EC; Greendale, K; Wilemon, K; Genest, J; Sperling, LS; Neal, WA; Rader, DJ; Khoury, MJ
Published in: Am Heart J
December 2014

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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Published In

Am Heart J

DOI

EISSN

1097-6744

Publication Date

December 2014

Volume

168

Issue

6

Start / End Page

807 / 811

Location

United States

Related Subject Headings

  • United States
  • Mass Screening
  • Hyperlipoproteinemia Type II
  • Humans
  • Global Health
  • Europe
  • Delayed Diagnosis
  • Coronary Artery Disease
  • Cardiovascular System & Hematology
  • 3201 Cardiovascular medicine and haematology
 

Citation

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Knowles, J. W., O’Brien, E. C., Greendale, K., Wilemon, K., Genest, J., Sperling, L. S., … Khoury, M. J. (2014). Reducing the burden of disease and death from familial hypercholesterolemia: a call to action. Am Heart J, 168(6), 807–811. https://doi.org/10.1016/j.ahj.2014.09.001
Knowles, Joshua W., Emily C. O’Brien, Karen Greendale, Katherine Wilemon, Jacques Genest, Laurence S. Sperling, William A. Neal, Daniel J. Rader, and Muin J. Khoury. “Reducing the burden of disease and death from familial hypercholesterolemia: a call to action.Am Heart J 168, no. 6 (December 2014): 807–11. https://doi.org/10.1016/j.ahj.2014.09.001.
Knowles JW, O’Brien EC, Greendale K, Wilemon K, Genest J, Sperling LS, et al. Reducing the burden of disease and death from familial hypercholesterolemia: a call to action. Am Heart J. 2014 Dec;168(6):807–11.
Knowles, Joshua W., et al. “Reducing the burden of disease and death from familial hypercholesterolemia: a call to action.Am Heart J, vol. 168, no. 6, Dec. 2014, pp. 807–11. Pubmed, doi:10.1016/j.ahj.2014.09.001.
Knowles JW, O’Brien EC, Greendale K, Wilemon K, Genest J, Sperling LS, Neal WA, Rader DJ, Khoury MJ. Reducing the burden of disease and death from familial hypercholesterolemia: a call to action. Am Heart J. 2014 Dec;168(6):807–811.
Journal cover image

Published In

Am Heart J

DOI

EISSN

1097-6744

Publication Date

December 2014

Volume

168

Issue

6

Start / End Page

807 / 811

Location

United States

Related Subject Headings

  • United States
  • Mass Screening
  • Hyperlipoproteinemia Type II
  • Humans
  • Global Health
  • Europe
  • Delayed Diagnosis
  • Coronary Artery Disease
  • Cardiovascular System & Hematology
  • 3201 Cardiovascular medicine and haematology