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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“W HeFH defekt dotyczy połowy receptorów LDL lub połowy cząsteczek Apo B. Trzecią niedawno wykrytą przyczyną FH jest obecność mutacji genu PCSK9, która łączy się ze zwiększoną aktywnością degradacyjną tego białka (gain-of-function mutation) w stosunku do receptorów LDL. Występuje ona stosunkowo rzadko, gdyż dotyczy mni…”
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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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