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Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

Educational Objective
To understand how cascade screening works and barriers to its use.
1 Credit CME

Familial hypercholesterolemia (FH) is a dominantly inherited genetic disorder affecting approximately 1 in 250 individuals. It is characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease (ASCVD).1 Persons with FH have a 2.5- to 10-fold increased risk of ASCVD compared with controls, but when FH is diagnosed and treated early in life, the risk is greatly reduced (≈ 80%).1 However, most people with FH have never been diagnosed or treated. Active case finding of FH plus family-based cascade screening can help identify individuals with FH and ensure treatment before ASCVD onset.

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Article Information

Corresponding Author: Joshua W. Knowles, MD, PhD, Division of Cardiovascular Medicine and Cardiovascular Institute, Stanford University Falk Cardiovascular Research Center, 870 Quarry Rd, Stanford, CA 94304 (knowlej@stanford.edu).

Correction: This article was corrected online August 4, 2017, to insert a thematic label.

Conflict of Interest Disclosures: The author has completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Knowles reports grants paid to the institution from the American Heart Association and Amgen. No other disclosures were reported.

References
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2.
Wald  DS, Bestwick  JP, Morris  JK,  et al.  Child-parent familial hypercholesterolemia screening in primary care.  N Engl J Med. 2016;375(17):1628-1637.PubMedGoogle ScholarCrossref
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Safarova  MS, Liu  H, Kullo  IJ.  Rapid identification of familial hypercholesterolemia from electronic health records.  J Clin Lipidol. 2016;10(5):1230-1239.PubMedGoogle ScholarCrossref
4.
Umans-Eckenhausen  MA, Defesche  JC, Sijbrands  EJ,  et al.  Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands.  Lancet. 2001;357(9251):165-168.PubMedGoogle ScholarCrossref
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DeMott  K, Nherera  L, Shaw  EJ,  et al.  Clincial Guidelines and Evidence Review for Familial Hypercholesterolemia: the Identification and Management of Adults and Children With Familial Hypercholesterolemia. London, England: National Collaborating Centre for Primary Care and Royal College of General Practitioners; 2008.
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Perez de Isla  L, Alonso  R, Watts  GF,  et al.  Attainment of LDL-cholesterol treatment goals in patients with familial hypercholesterolemia.  J Am Coll Cardiol. 2016;67(11):1278-1285.PubMedGoogle ScholarCrossref
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Lozano  P, Henrikson  NB, Dunn  J,  et al.  Lipid screening in childhood and adolescence for detection of familial hypercholesterolemia.  JAMA. 2016;316(6):645-655.PubMedGoogle ScholarCrossref
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Abul-Husn  NS, Manickam  K, Jones  LK,  et al.  Genetic identification of familial hypercholesterolemia within a single U.S. health care system.  Science. 2016;354(6319):aaf7000.PubMedGoogle ScholarCrossref
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Wonderling  D, Umans-Eckenhausen  MA, Marks  D,  et al.  Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in the Netherlands.  Semin Vasc Med. 2004;4(1):97-104.PubMedGoogle ScholarCrossref
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Nherera  L, Marks  D, Minhas  R,  et al.  Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies.  Heart. 2011;97(14):1175-1181.PubMedGoogle ScholarCrossref
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