Cited by 622Lipoproteins and Cardiovascular HealthLipid metabolism and disordersCholesterol and Lipid Metabolism

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Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

Goldberg, Anne C., Hopkins, Paul N., Toth, Peter P., Ballantyne, Christie M., Rader, Daniel J., Robinson, Jennifer G., Daniels, Stephen R., Gidding, Samuel S., de Ferranti, Sarah D., Ito, Matthew K., McGowan, Mary P., Moriarty, Patrick M., Cromwell, William C., Ross, Joyce L., Ziajka, Paul E.·2011·Journal of clinical lipidology

DOI 10.1016/j.jacl.2011.03.001

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Abstract

The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe elevations of blood cholesterol levels and increased risk of premature coronary heart disease. FH is among the most commonly occurring congenital metabolic disorders. FH is a treatable disease. Aggressive lipid lowering is necessary to achieve the target LDL cholesterol reduction of at least 50% or more. Even greater target LDL cholesterol reductions may be necessary for FH patients who have other CHD risk factors. Despite the prevalence of this disease and the availability of effective treatment options, FH is both underdiagnosed and undertreated, particularly among children. Deficiencies in the diagnosis and treatment of FH indicate the need for greatly increased awareness and understanding of this disease, both on the part of the public and of healthcare practitioners. This document provides recommendations for the screening, diagnosis and treatment of FH in pediatric and adult patients developed by the National Lipid Association Expert Panel on Familial Hypercholesterolemia. This report goes beyond previously published guidelines by providing specific clinical guidance for the primary care clinician and lipid specialist with the goal of improving care of patients with FH and reducing their elevated risk for CHD.

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Summary of the second report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel II)
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
Detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III)
Grundy, S. M., Becker, D. M., Clark, L. T., Cooper, R., Denke, M. A., Howard, J. L., Hunninghake, D. B., Illingworth, D. R., Luepker, R. V., McBride, P. E., et al. (2002) · Civil War Book Review · Cited by 12,198
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
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
Implications of Recent Clinical Trials for the National Cholesterol Education Program Adult Treatment Panel III Guidelines
Grundy, S. M., Cleeman, J. I., Merz, C. N. B., Brewer, H. B., Clark, L. T., Hunninghake, D. B., Pasternak, R. C., Smith, S. C., & Stone, N. J. (2004) · Circulation · doi:10.1161/01.cir.0000133317.49796.0e · Cited by 6,902
Efficacy and safety of cholesterol-lowering treatment: prospective meta-analysis of data from 90 056 participants in 14 randomised trials of statins
(2005) · The Lancet · doi:10.1016/s0140-6736(05)67394-1 · Cited by 6,848
Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170 000 participants in 26 randomised trials
Cholesterol Treatment Trialists' (CTT) Collaboration (2010) · The Lancet · doi:10.1016/s0140-6736(10)61350-5 · Cited by 6,550
Association between Multiple Cardiovascular Risk Factors and Atherosclerosis in Children and Young Adults
Berenson, G. S., Srinivasan, S. R., Bao, W., Newman, W. P., Tracy, R. E., & Wattigney, W. A. (1998) · New England Journal of Medicine · doi:10.1056/nejm199806043382302 · Cited by 4,032
The Metabolic Syndrome and Cardiovascular Risk
Mottillo, S., Filion, K. B., Genest, J., Joseph, L., Pilote, L., Poirier, P., Rinfret, S., Schiffrin, E. L., & Eisenberg, M. J. (2010) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.05.034 · Cited by 3,009
Effects of Combination Lipid Therapy in Type 2 Diabetes Mellitus
(2010) · New England Journal of Medicine · doi:10.1056/nejmoa1001282 · Cited by 2,837

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Metabolismo de quilomícrons e aterosclerose subclínica em portadores de hipercolesterolemia familiar heterozigótica
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Andersen, L. H., Testa, H., Kline, B., Yoder, A., & Andersen, R. L. (2016) · Journal of clinical lipidology · doi:10.1016/j.jacl.2016.03.034
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Advances in dyslipidemia
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Kong, Q., Zhu, Q., & Wang, L. (2018) · International Journal of Pharmacology · doi:10.3923/ijp.2018.151.163
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Sarma, D., Benedict, L. M., Moulick, A. N., Stevens, R. M., & Mahan, V. L. (2018) · World Journal of Cardiovascular Surgery · doi:10.4236/wjcs.2018.84007
“LDL-C, and ultimately lead to the development of atherosclerotic fatty streaks and lesions, increasing the risk for cardiovascular disease [5] [7].”
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Rubio, P. A., Armada, A. M., García, E. C., & Galán, I. R. (2021) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2020.01.015
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Симерзин, В. В., Fatenkov, O. V., Gagloeva, I. V., Анатольевна, Г. М., Panisheva, Y. A., & Халитович, С. И. (2016) · Science and Innovations in Medicine · doi:10.35693/2500-1388-2016-0-4-23-30
Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Cities at the HipercolBrasil ProgramPreprint
Jannes, C. E., Silvino, J. P. D. P., Silva, P. R. D. S., Lima, I. R., Tada, M. T., de Oliveira, T. G. M., Santos, R. D., Krieger, J. E., & Pereira, A. (2020) · Research Square · doi:10.21203/rs.3.rs-112990/v1
Management of Dyslipidemia
Brunzell, J. D., & Failor, R. A. (2018) · DeckerMed Medicine · doi:10.2310/fm.1569
Guideline recommendations, clinical trial data, and new and emerging therapies
Lindsley, J. (2021) · The American Journal of Managed Care · doi:10.37765/ajmc.2021.88607
Familial hypercholesterolemia: clinical pearls
Hydoub, Y. M. (2019) · Journal of Cardiology & Current Research · doi:10.15406/jccr.2019.12.00454
Intervenciones telefónicas y control del debido proceso. El necesario límite a la creación de irrazonables excepciones
Lega, P. J. (2013) · Revista de Derecho Penal y Criminología
Management of Dyslipidemia
Toth, P. P. (2018) · Contemporary cardiology · doi:10.1007/978-3-319-97622-8_3
FAMILIAL HYPERCHOLESTEROLEMIA IN THE FAROE ISLANDS
Borg, S. Á. (2022) · VBN Forskningsportal (Aalborg Universitet) · doi:10.54337/aau518616112
STATIN TREATMENT AND POTENCY ROLE IN CHILDREN WITH FAMILIAL HYPERCHOLESTEROLEMIA: A REVIEW OF EFFICACY AND SAFETY
Arriaga-Cázares, H. E., Vega, C. F. C. D., Charles-Lozoya, S., Morales, D. V., & Martagón, A. J. (2023) · doi:10.53555/jptcp.v30i17.2363
Comparison of Lipid Profile of Sedentary Workers with the Athletes Undertaking Aerobic Exercises Regularly
Banerjee, B., Sarkar, S., Mortuja, S. G., & Mukherjee, A. (2023) · Indian Journal of Public Health Research & Development · doi:10.37506/ijphrd.v14i4.19793
Cardiovascular and Pulmonary Cases: Hyperlipidemia
Brown, E. E., & James, C. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-816478-5.00038-8
Women and familial hypercholesterolemia
Chasioti, G., & Kotanidou, Α. (2024) · Health & Research Journal · doi:10.12681/healthresj.37347
Bile Acid Sequestrants
Goldberg, A. C. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-28786-9.00022-0
Case report: Young onset stroke from familial hypercholesterolemia
Pinzon, R. T., & Herlin, J. (2024) · Romanian Journal of Neurology · doi:10.37897/rjn.2024.1.15
“Generally, adult patients have a level of LDL-C higher than 4.9 mmol/l; however, some patients and their relatives may have lower cholesterol levels, particularly if they are younger [11,12].”
BackgroundInfluential
Genetics in relation to cardiac diseases: Implications for general practitioners
Ng, K. K., & Rahman, A. (2024) · Australian Journal of General Practice · doi:10.31128/ajgp-10-23-6986
Clinical Management of Familial Hypercholesterolemia in Children
Widhalm, K., & Fallmann, K. (2024) · Current Pediatric Reviews · doi:10.2174/0115733963283106240712073530

Authors: 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., McGowan, M. P., Moriarty, P. M., Cromwell, W. C., Ross, J. L., & Ziajka, P. E.
Affiliations: Washington University in St. Louis (US)
University of Utah (US)
CGH Medical Center (US)
Baylor College of Medicine (US)
University of Pennsylvania (US)
University of Iowa (US)
Children's Hospital Colorado (US)
Alfred I. duPont Hospital for Children (US)
Oregon State University (US)
Concord Hospital (US)
University of Kansas Medical Center (US)
Wake Forest University (US)
University of Pennsylvania Health System (US)
Corresponding author: Goldberg, Anne C.
ORCID: Goldberg, Anne C.
Hopkins, Paul N.
Toth, Peter P.
Ballantyne, Christie M.
Rader, Daniel J.
Robinson, Jennifer G.
Daniels, Stephen R.
Gidding, Samuel S.
McGowan, Mary P.
Moriarty, Patrick M.
Cromwell, William C.
Venue: Journal of clinical lipidology
Publisher: Elsevier BV
Published: 2011-05
Volume: 5
Issue: 3
Pages: 133-140
ISSN: 1876-4789 (ISSN-L)
1933-2874
DOI: 10.1016/j.jacl.2011.03.001
OpenAlex: W2943032204
Cited by: 622
References: 163
Citations by year: 2026: 13 · 2025: 16 · 2024: 15 · 2023: 22 · 2022: 23 · 2021: 55 · 2020: 53 · 2019: 39 · 2018: 63 · 2017: 47 · 2016: 76 · 2015: 58 · 2014: 56 · 2013: 47 · 2012: 28
FWCI: 45.77
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Journal of clinical lipidology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Cholesterol and Lipid Metabolism
Keywords: familial hypercholesterolemia, screening, diagnosis, lipid-lowering therapy, LDL cholesterol lowering, coronary heart disease risk, pediatric patients, underdiagnosis, primary care, genetic lipid disorders
MeSH terms: Proprotein Convertase 9, Adult, Anticholesteremic Agents, Apolipoproteins B, Child, Coronary Disease, Genetic Testing, Homozygote, Humans, Hyperlipoproteinemia Type II, Mutation, Serine Endopeptidases, Practice Guidelines as Topic, LDL-Receptor Related Proteins, Proprotein Convertases

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Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

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