Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing
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Less than 10% of persons with familial hypercholesterolemia in the United States have been diagnosed.
“it is estimated that less than 10% of persons with FH in the US have been diagnosed,1”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [7]
Cascade screening of relatives after identifying an individual with familial hypercholesterolemia is highly cost-effective in reducing excess morbidity in family members.
“In addition, because FH is highly penetrant, once an individual with FH is identified, cascade screening of relatives has been shown to be highly cost-effective in reducing excess morbidity in family members.2,6–8”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [7]
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Research works printed but not linked: 10
- [1]Gidding SS, Champagne MA, de Ferranti SD, The agenda for familial hypercholesterolemia. Circulation. 2015; 132(22): 2167– 2192. 26510694
- [2]Wald DS, Bestwick JP, Morris JK, Child-parent familial hypercholesterolemia screening in primary care. N Engl J Med 2016; 375(17): 1628– 1637. 27783906
- [3]Safarova MS, Liu H, Kullo IJ. Rapid identification of familial hypercholesterolemia from electronic health records. J Clin Lipidol 2016; 10(5): 1230– 1239. 27678441 PMC9229555
- [4]Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet. 2001; 357(9251): 165– 168. 11213091
- [5]DeMott K, Nherera L, Shaw EJ, 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.
- [6]Perez de Isla L, Alonso R, Watts GF, Attainment of LDL-cholesterol treatment goals in patients with familial hypercholesterolemia. J Am Coll Cardiol 2016; 67(11): 1278– 1285. 26988947
- [7]Lozano P, Henrikson NB, Dunn J, Lipid screening in childhood and adolescence for detection of familial hypercholesterolemia. JAMA. 2016; 316(6): 645– 655. 27532919
- [8]Abul-Husn NS, Manickam K, Jones LK, Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science. 2016; 354(6319): aaf7000. 28008010
- [9]Wonderling D, Umans-Eckenhausen MA, Marks D, Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia intheNetherlands. Semin Vasc Med 2004; 4(1): 97– 104. 15199439
- [10]Nherera L, Marks D, Minhas R, Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart. 2011; 97(14): 1175– 1181. 21685482
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“7 After an index case with FH is identi fi ed, cascade screening is highly effective in identifying affected family members.”
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- Authors
- Knowles, J. W., Rader, D. J., & Khoury, M. J.
- Affiliations
- FH Foundation (US)
- Centers for Disease Control and Prevention (US)
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2017-07-25
- Volume
- 318
- Issue
- 4
- Pages
- 381
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC6166431
- OpenAlex
- W2736457837
- Cited by
- 190
- References
- 0
- Citations by year
- 2026: 18 · 2025: 14 · 2024: 19 · 2023: 14 · 2022: 24 · 2021: 21 · 2020: 29 · 2019: 22 · 2018: 24 · 2017: 5
- FWCI
- 22.42
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (CC999999)
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Health Promotion and Cardiovascular Prevention
- Keywords
- familial hypercholesterolemia, family screening, genetic testing, LDL cholesterol
- MeSH terms
- Female, Genetic Testing, Humans, Hyperlipoproteinemia Type II, Male, Pedigree
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