Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

Civeira, Fernando

doi:10.1016/j.atherosclerosis.2003.11.010

Cited by 496Lipoproteins and Cardiovascular HealthLipid metabolism and disordersDiabetes, Cardiovascular Risks, and Lipoproteins

Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

Civeira, Fernando·2004·Atherosclerosis

DOI 10.1016/j.atherosclerosis.2003.11.010

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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.

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“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]
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Noninvasive surrogate markers of atherosclerosis
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A Randomized Crossover Trial of Combination Pharmacologic Therapy in Children with Familial Hyperlipidemia
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Prevalence of familial hypercholesterolemia among young north Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction.
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Comparative Efficacy and Safety of Pravastatin and Cholestyramine Alone and Combined in Patients With Hypercholesterolemia
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A Frequent Mutation in the Lipoprotein Lipase Gene (D9N) Deteriorates the Biochemical and Clinical Phenotype of Familial Hypercholesterolemia
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Hipercolesterolemia familiar heterocigota en España. Estudio descriptivo de 819 casos no relacionados
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LDL Apheresis: An Effective and Safe Treatment for Refractory Hypercholesterolemia
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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society
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 · see citing works
ATUALIZAÇÃO DA DIRETRIZ BRASILEIRA DE DISLIPIDEMIAS E PREVENÇÃO DA ATEROSCLEROSE - 2017
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Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
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Genetic identification of familial hypercholesterolemia within a single U.S. health care system
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Gut microbiota and cardiovascular disease: opportunities and challenges
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Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
Watts, G. F., Gidding, S. S., Wierzbicki, A. S., Toth, P. P., Rodrigo Alonso, K., Brown, W. V., Bruckert, É., Defesche, J. C., Lin, K. K., Livingston, M., et al. (2013) · International Journal of Cardiology · doi:10.1016/j.ijcard.2013.11.025 · Cited by 377 · see citing works
Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Hopkins, P. N., Toth, P. P., Ballantyne, C. M., & Rader, D. J. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.452 · Cited by 348 · see citing works
An International Atherosclerosis Society Position Paper: Global recommendations for the management of dyslipidemia
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Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis
Akioyamen, L. E., Genest, J. J., Shan, S., Reel, R. L., Albaum, J. M., Chu, A., & Tu, J. V. (2017) · BMJ Open · doi:10.1136/bmjopen-2017-016461 · Cited by 347 · see citing works
An International Atherosclerosis Society Position Paper: Global recommendations for the management of dyslipidemia-Full report
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International Journal of Collaborative Research on Internal Medicine & Public Health
Valdivia, J. R. M. (2021) · Journal of Womens Health Issues and Care · Cited by 300 · see citing works
Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands
Pijlman, A. H., Huijgen, R., Verhagen, S. N., Imholz, B. P. M., Liem, A. H., Kastelein, J. J. P., Abbink, E. J., Stalenhoef, A. F. H., & Visseren, F. L. J. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.09.014 · Cited by 272 · see citing works
Recommendations for the use of LDL apheresis
Thompson, G. R. (2008) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2008.02.009 · Cited by 270 · see citing works
Diagnosis and treatment of familial hypercholesterolaemia
Hovingh, G. K., Davidson, M. H., Kastelein, J. J. P., & O’Connor, A. M. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht015 · Cited by 258 · see citing works
Randomized, Placebo-Controlled Trial of Mipomersen in Patients with Severe Hypercholesterolemia Receiving Maximally Tolerated Lipid-Lowering Therapy
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Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017
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Disorders of lipid metabolism. Clinical Guidelines 2023
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Severe heterozygous familial hypercholesterolemia and risk for cardiovascular disease: A study of a cohort of 14,000 mutation carriers
Besseling, J., Kindt, I., Hof, M. H. P., Kastelein, J. J. P., Hutten, B. A., & Hovingh, G. K. (2014) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2013.12.020 · Cited by 212 · see citing works
Familial hypercholesterolaemia: A model of care for Australasia
Watts, G. F., SULLIVAN, D. R., Poplawski, N. K., van Bockxmeer, F., Hamilton‐Craig, I. R., Clifton, P. M., O’Brien, R. C., Bishop, W., George, P. M., Barter, P. J., et al. (2011) · Atherosclerosis Supplements · doi:10.1016/j.atherosclerosissup.2011.06.001 · Cited by 205 · see citing works
Xanthomas: Clinical and pathophysiological relations
Žák, A., Zeman, M., Slaby, A., & Vecka, M. (2014) · Biomedical Papers · doi:10.5507/bp.2014.016 · Cited by 194 · see citing works
Comparison of Genetic Versus Clinical Diagnosis in Familial Hypercholesterolemia
Civeira, F., Ros, E., Jarauta, E., Plana, N., Zambón, D., Puzo, J., de Esteban, J. P. M., Ferrando, J., Zabala, S., Almagro, F., et al. (2008) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2008.06.056 · Cited by 180 · see citing works
Self-citation
Guidelines for the Management of Familial Hypercholesterolemia
Harada‐Shiba, M., Arai, H., Oikawa, S., Ohta, T., Okada, T., Okamura, T., Nohara, A., Bujo, H., Yokote, K., Wakatsuki, A., et al. (2012) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.14621 · Cited by 176 · see citing works
Semi-supervised learning of the electronic health record for phenotype stratification
Beaulieu‐Jones, B. K., & Greene, C. S. (2016) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2016.10.007 · Cited by 175 · see citing works
Pediatric aspects of Familial Hypercholesterolemias: Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
Daniels, S. R., Gidding, S. S., & de Ferranti, S. D. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.453 · Cited by 173 · see citing works
Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation
Watts, G. F., Gidding, S. S., Wierzbicki, A. S., Toth, P. P., Rodrigo Alonso, K., Brown, W. V., Bruckert, É., Defesche, J. C., Lin, K. K., Livingston, M., et al. (2014) · Journal of clinical lipidology · doi:10.1016/j.jacl.2014.01.002 · Cited by 163 · see citing works
Universal Screening for Familial Hypercholesterolemia in Children
Klančar, G., Grošelj, U., Kovač, J., Bratanič, N., Bratina, N., Podkrajšek, K. T., & Battelino, T. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.07.017 · Cited by 152 · see citing works
Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology
Backer, G. D., Besseling, J., Chapman, J., Hovingh, G. K., Kastelein, J. J. P., Kotseva, K., Ray, K. K., Reiner, Ž., Wood, D., & Bacquer, D. D. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.04.809 · Cited by 151 · see citing works
Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
Rodrigo Alonso, K., Mata, N., Castillo, S., Fuentes, F. J., Sáenz, P. L. R., Muñiz-Grijalvo, O., Galiana, J., Figueras, R., Díaz-Díaz, J. L., Enterría, P. G., et al. (2008) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2007.12.024 · Cited by 151 · see citing works
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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)
DOI: 10.1016/j.atherosclerosis.2003.11.010
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
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Atherosclerosis (publishedVersion)
PubMed (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Pure Amsterdam UMC (submittedVersion)
Topics: Health Sciences › Medicine › Surgery › 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

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Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia

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