The DOI matches its Crossref record; 122 of the 125 references it cites were found in a registry or an index.
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by very high plasma concentrations of low density lipoprotein cholesterol (LDLc), tendon xanthomas and increased risk of premature coronary heart disease (CHD). FH is a public health problem throughout the world. There are 10,000,000 people with FH worldwide, mainly heterozygotes, and approximately 85% of males and 50% of females with FH will suffer a coronary event before 65 years old if appropriate preventive efforts are not implemented. Early identification of persons with FH and their relatives, and the early start of treatment are essential issues in the prevention of premature cardiovascular disease (CVD) and death in this population. However, guidelines for the general population formally exclude FH from their diagnostic and treatment recommendations. These guidelines have been elaborated by a group of international experts with the intention to answer the main questions about heterozygous FH (heFH) subjects that physicians worldwide face in the diagnosis and management of these patients.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“The FH patients were followed at an FH-specific clinic and had been diagnosed as probable or definite FH using existing diagnostic criteria including genetic testing information when available.5,33–36”
From Finding missed cases of familial hypercholesterolemia in health systems using machine learning (2019) · cites this paper as [34]
In the citing paper
“In all cases (n = 557), FH was diagnosed using the Dutch Lipid Clinic Network criteria [54].”
From Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia (2024) · cites this paper as [54]
In the citing paper
“FH is caused by inherited genetic abnormalities that directly or indirectly affect the function of the LDL receptors (LDLRs) [5].”
From ApoB100/LDLR-/- Hypercholesterolaemic Mice as a Model for Mild Cognitive Impairment and Neuronal Damage (2011) · cites this paper as [5]
Citations
Cites
Grundy, S. M., Bilheimer, D. W., Chait, A., Clark, L. T., Denke, M. A., Havel, R. J., Hazzard, W. R., Hulley, S. B., Hunninghake, D. B., Kreisberg, R. A., et al. (1993) · JAMA · doi:10.1001/jama.269.23.3015 · Cited by 27,944
Expert Panel on Detection, E. (2001) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.285.19.2486 · Cited by 26,011
Prediction of coronary heart disease using risk factor categories
Wilson, P. W. F., D’Agostino, R. B., Levy, D., Belanger, A. M., Silbershatz, H., & Kannel, W. B. (1998) · Circulation · doi:10.1161/01.cir.97.18.1837 · Cited by 9,581
OLSSON, A. G., McMurray, J. J. V., Thorgeirsson, G., Spaulding, C. M., Slattery, J., Pyörälà, K., Færgeman, O., Wright, R. S., Berg, K. M., Wilhelmsen, L., et al. (1994) · The Lancet · Cited by 8,467
The Metabolic Basis of Inherited Disease.
(1988) · Annals of Internal Medicine · doi:10.7326/0003-4819-108-3-503_7 · Cited by 7,807
Prevention of Coronary Heart Disease with Pravastatin in Men with Hypercholesterolemia
Shepherd, J., Cobbe, S. M., Ford, I., Isles, C. G., Lorimer, A. R., Macfarlane, P. W., McKillop, J. H., & Packard, C. J. (1995) · New England Journal of Medicine · doi:10.1056/nejm199511163332001 · Cited by 7,449
Sacks, F. M., Pfeffer, M. A., Moye, L. A., Rouleau, J. L., Rutherford, J. D., Cole, T. G., Brown, L., Warnica, J. W., Arnold, J. M. O., Wun, C.-C., et al. (1996) · New England Journal of Medicine · doi:10.1056/nejm199610033351401 · Cited by 7,439
A Receptor-Mediated Pathway for Cholesterol Homeostasis
Brown, M. S., & Goldstein, J. L. (1986) · Science · doi:10.1126/science.3513311 · Cited by 5,703
(1998) · New England Journal of Medicine · doi:10.1056/nejm199811053391902 · Cited by 5,261
Research works printed but not linked: 2
- Defesche J. Familial hypercholesterolemia. In: Betteridge J, editor. Lipids and vascular disease, vol. 6. London: Martin Dunitz; 2000. p. 65–76.
- Mabuchi, 1989, Development of coronary heart disease in familial hypercholesterolemia, Circulation, 79, 225, 10.1161/01.CIR.79.2.225 · DOI
Cited by
Sorted by citations
Nordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., Wiklund, O., Hegele, R. A., Raal, F. J., Defesche, J. C., et al. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht273 · Cited by 2,761
ATUALIZAÇÃO DA DIRETRIZ BRASILEIRA DE DISLIPIDEMIAS E PREVENÇÃO DA ATEROSCLEROSE - 2017
Faludi, A., Izar, M. C. D. O., Saraiva, J., Chacra, A., Bianco, H. T., Neto, A. A., Bertolami, A., Pereira, A., Lottenberg, A., Sposito, A. C., et al. (2017) · Arquivos Brasileiros de Cardiologia · doi:10.5935/abc.20170121 · Cited by 690
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
Goldberg, A. C., Hopkins, P. N., Toth, P. P., Ballantyne, C. M., Rader, D. J., Robinson, J. G., Daniels, S. R., Gidding, S. S., de Ferranti, S. D., Ito, M. K., et al. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.001 · Cited by 622
Genetic identification of familial hypercholesterolemia within a single U.S. health care system
Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science · doi:10.1126/science.aaf7000 · Cited by 425
Gut microbiota and cardiovascular disease: opportunities and challenges
Kazemian, N., Mahmoudi, M., Halperin, F. A., Wu, J. C., & Pakpour, S. (2020) · Microbiome · doi:10.1186/s40168-020-00821-0 · Cited by 404
Metadata
- Authors
- Civeira, F.
- Affiliations
- Hospital Universitario Miguel Servet (ES)
- Corresponding author
- Civeira, Fernando
- ORCID
- Civeira, Fernando
- Venue
- Atherosclerosis
- Publisher
- Elsevier BV
- Published
- 2004-03
- Volume
- 173
- Issue
- 1
- Pages
- 55-68
- ISSN
- 0021-9150 (ISSN-L)
- OpenAlex
- W2042489459
- Cited by
- 495
- References
- 125
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 14 · 2023: 10 · 2022: 23 · 2021: 15 · 2020: 26 · 2019: 25 · 2018: 28 · 2017: 30 · 2016: 34 · 2015: 27 · 2014: 41 · 2013: 36 · 2012: 24
- FWCI
- 18.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Atherosclerosis (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- heterozygous familial hypercholesterolemia, LDL cholesterol, coronary artery disease, cardiovascular disease prevention, diagnosis, treatment, tendon xanthomas, lipoprotein metabolism
- MeSH terms
- Adult, Aged, Hypolipidemic Agents, Combined Modality Therapy, Diet, Female, Heterozygote, Humans, Hyperlipoproteinemia Type II, Life Style, Male, Middle Aged, Prognosis, Severity of Illness Index, Global Health, Survival Analysis, Age Distribution, Sex Distribution, Risk Assessment
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
