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The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association

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Gidding, Samuel S., Ann Champagne, Mary, de Ferranti, Sarah D., Defesche, Joep, Ito, Matthew K., Knowles, Joshua W., McCrindle, Brian, Raal, Frederick +5 more·2015·Circulation
DOI 10.1161/cir.0000000000000297
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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 [1]

    The introductory section says FH remains underdiagnosed worldwide, which supports the general point. The Diagnosis and Screening sections discuss barriers to recognition, but the passages do not give a US estimate or say that fewer than 10% have been diagnosed. Page numbers were not supplied. (LLM, conf=0.83)

    Experimental — accuracy not yet measured

  • The DLCN criteria assigns points based on clinical findings, family history, and genetic testing results, and categorizes individuals as definite, probable, possible, or unlikely FH.

    “The DLCN criteria assigns points for based on clinical findings (e.g., LDL-cholesterol levels, history of coronary artery disease, physical exam), family history and genetic testing results (if known). Based on the score, individuals are categorized as definite, probable, possible or unlikely FH.”

    From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [1]

    The Diagnosis section (page unavailable) says the Dutch Lipid Clinic Network criteria use a score combining LDL-C, clinical signs, family history of coronary artery disease, and DNA markers. It says a score above 5 makes FH highly probable, but does not give the claimed four categories—definite, probable, possible, and unlikely. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

  • When evaluating identified patients via chart review, individuals were judged to have FH if they met either DLCN or MEDPED criteria.

    “When evaluating the identified patients via chart review, individuals were judged to have FH if they met either DLCN or MEDPED criteria.”

    From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [1]

    The Diagnosis section describes DLCN and MEDPED as established clinical criteria for diagnosing FH. It does not describe evaluating patients by chart review or specify a rule that meeting either set of criteria establishes FH in that review. (LLM, conf=0.84)

    Experimental — accuracy not yet measured

  • Familial hypercholesterolemia is an autosomal dominant condition with an estimated prevalence of approximately 1 in 250.

    “Familial hypercholesterolemia (FH) is an autosomal dominant condition with an estimated prevalence of approximately 1 in 250,1”

    From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [1]

    The opening section describes FH as an autosomal-dominant genetic disease. It estimates the prevalence of heterozygous FH at approximately 1 in 200 to 1 in 500, which includes 1 in 250 but does not give that figure as a point estimate. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • Those with higher DLCN scores are more likely to have a causal mutation identified on genetic testing.

    “Those with higher scores are more likely to have a causal mutation identified on genetic testing.”

    From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [1]

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Cited by

Sorted by citations

Authors
Gidding, S. S., Ann Champagne, M., de Ferranti, S. D., Defesche, J., Ito, M. K., Knowles, J. W., McCrindle, B., Raal, F., Rader, D., Santos, R. D., Lopes-Virella, M., Watts, G. F., & Wierzbicki, A. S.
ORCID
Venue
Circulation
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2015-12
Volume
132
Issue
22
Pages
2167-2192
ISSN
  • 0009-7322 (ISSN-L)
  • 1524-4539
DOI
10.1161/cir.0000000000000297
OpenAlex
W1844854928
Cited by
723
References
9
Citations by year
2026: 43 · 2025: 66 · 2024: 61 · 2023: 71 · 2022: 60 · 2021: 75 · 2020: 85 · 2019: 63 · 2018: 61 · 2017: 62 · 2016: 73 · 2015: 1 · 2013: 1
FWCI
66.19
Type
journal article
Language
en
Update notices
correction (2015-12-22)
Open access
Licence
other-oa
Locations
  • Circulation (publishedVersion)
  • PubMed (publishedVersion)
  • Pure Amsterdam UMC (submittedVersion, other-oa)
  • UWA Profiles and Research Repository (UWA) (submittedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Health and Risk Factors
  • Life Sciences › Immunology and Microbiology › Immunology › Atherosclerosis and Cardiovascular Diseases
Keywords
familial hypercholesterolemia, cardiovascular risk, cholesterol lowering, cardiovascular disease prevention
MeSH terms
American Heart Association, Humans, Hyperlipoproteinemia Type II, Receptors, LDL, United States

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