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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Retracted
Familial defective apolipoprotein B-100: a tale of twin mutations
Andersen, L. H., Andersen, R. L., & Miserez, A. R. (2016) · Journal of clinical lipidology · doi:10.1016/j.jacl.2016.04.007 · Cited by 4
LDLR Variant Databases and Familial Hypercholesterolemia Population Studies
Andersen, L. H., Estrella, L., & Andersen, R. L. (2017) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.09.988 · Cited by 4
The Cardiovascular Burden of Undiagnosed Familial Hypercholesterolemia: Need to Modify Guidelines to Encourage Earlier Diagnosis and Therapy
McPherson, R. (2018) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2018.06.019 · Cited by 4
Barriers and facilitators for population genetic screening in healthy populations: a systematic reviewPreprint
Shen, E. C., Sriniva, S., Passero, L. E., Allen, C. G., Dixon, M., Foss, K., Halliburton, B., Milko, L. V., Smit, A. K., Carlson, R., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-1315303/v1 · Cited by 4
Lipid disorders in children – an underestimated problem
Wójcik, M. (2022) · Pediatric Endocrinology Diabetes and Metabolism · doi:10.5114/pedm.2022.122050 · Cited by 4
Identification and Rationalization of Kinetic Folding Intermediates for a Low-Density Lipoprotein Receptor Ligand-Binding Module
Szekely, O., Armony, G., Olsen, G. L., Bigman, L. S., Levy, Y., Fass, D., & Frydman, L. (2018) · Biochemistry · doi:10.1021/acs.biochem.8b00466 · Cited by 3
The Impact of Blood Flow Restriction Training on Glucose and Lipid Metabolism in Overweight or Obese Adults: A Systematic Review and Meta-Analysis
Chen, H., Liu, P., Deng, Y., Cai, H., Liang, P., & Jiang, X. (2025) · Life · doi:10.3390/life15081245 · Cited by 4
Duplication of exon 7–12 in the low-density lipoprotein receptor gene in three Danish patients with familial hypercholesterolemia
Feddersen, S., Overgaard, M., & Nybo, M. (2012) · Journal of clinical lipidology · doi:10.1016/j.jacl.2012.11.003 · Cited by 3
Speckle-Tracking Echocardiography for Detecting Subclinical Left Ventricular Dysfunction in Patients With Familial Hypercholesterolemia
Li, R., Xie, J., Jiang, B., Sun, Z., Wang, L., Leng, Z., Wang, Y.-L., & Yang, Y. (2021) · Texas Heart Institute Journal · doi:10.14503/thij-18-6720 · Cited by 3
Recent applications of RNA therapeutic in clinics
Thi, H. T. H., & Than, V. T. (2024) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2023.12.015 · Cited by 3
Low-Density Lipoprotein (LDL) Apheresis
Duell, P. B. (2015) · Contemporary Endocrinology · doi:10.1007/978-1-60761-424-1_29 · Cited by 3
Dislipemias en la edad pediátrica. Importancia del diagnóstico y tratamiento precoces
Gambetta, J. C., Araujo, M. B., & Chiesa, P. (2019) · Revista Uruguaya de Cardiología · doi:10.29277/cardio.34.3.20 · Cited by 4
Mice lacking global Stap1 expression do not manifest hypercholesterolemia
Kanuri, B., Fong, V., Haller, A. M., Hui, D. Y., & Patel, S. B. (2020) · BMC Medical Genetics · doi:10.1186/s12881-020-01176-x · Cited by 3
Screening for Familial Hypercholesterolaemia: Universal or Cascade? A Critique of Current FH Recognition Strategies
SULLIVAN, D. R., Freeman, L., Molloy, L., & Williams, G. (2015) · Current Cardiovascular Risk Reports · doi:10.1007/s12170-014-0434-1 · Cited by 4
Diabetes Status and Race are Associated With Cardiovascular Risk Markers in Obese Adolescents
Colvin, C., Ashraf, A. P., Griffin, R. L., Diaz, B. T., Yannam, G. R., Johnson, J. E., Lucas, A. P., Propst, M. S., & Harmon, C. M. (2014) · Endocrine Practice · doi:10.4158/ep14087.or · Cited by 3
The role of mipomersen therapy in the treatment of familial hypercholesterolemia
Plakogiannis, R., Cioce, L., Fisher, E. A. A., & Underberg, J. A. (2012) · Clinical Investigation · doi:10.4155/cli.12.96 · Cited by 3
Acute Myocardial Infarction in a 26-Year-Old Patient With Familial Hypercholesteremia
Miyayama, T., Miura, S., Komaki, T., Kuwano, T., Morii, J., Nishikawa, H., & Saku, K. (2016) · Journal of Clinical Medicine Research · doi:10.14740/jocmr2596w · Cited by 3
Diagnosis and treatment of familial hypercholesterolemia
Palma, L., Welding, M., & O'Shea, J. (2016) · The Nurse Practitioner · doi:10.1097/01.npr.0000488711.52197.bd · Cited by 3
Harder-to-Treat Patients: Recognizing Them and Adapting Treatment Strategies
Miedema, M. D., & Virani, S. S. (2016) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2016.05.027 · Cited by 3
Genetic considerations in the treatment of familial hypercholesterolemia
Moyer, A. M., & Baudhuin, L. M. (2015) · Clinical Lipidology · doi:10.2217/clp.15.33 · Cited by 3
Disorders of Lipid Metabolism
Conroy, R., Mackie, S. A., & Boney, C. M. (2018) · Springer eBooks · doi:10.1007/978-3-319-73782-9_33 · Cited by 3
Novel Lipid Thresholds for Screening Predict the Need for Pharmacotherapy
Zawacki, A. W., Dodge, A., Eickhoff, J. C., Sun, W. Y., Marriott, E., Ralphe, J. C., & Peterson, A. L. H. (2018) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.07.008 · Cited by 3
Ancestrally and Temporally Diverse Analysis of Penetrance of Clinical Variants in 72,434 IndividualsPreprint
Forrest, I. S., Chaudhary, K., Vy, H. M. T., Bafna, S., Jordan, D. M., Rocheleau, G., Loos, R. J. F., Cho, J. H., & Do, R. (2021) · medRxiv · doi:10.1101/2021.03.11.21253430 · Cited by 3
Optimal timing for genetic verification of familial hypercholesterolaemia in children
Nielsen, S. T., & Frikke‐Schmidt, R. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf773 · Cited by 3
Novel strategies to FIND people living with genetic dyslipidemias: The family heart foundation flag, identify, network, and deliver (FIND) familial hypercholesterolemia collaborative learning network
Bardach, S. H., Blike, G., Sperling, L. S., Kim, K., Furman, B. W., Kulp, D., Lam, S., Eapen, D. J., Orr, J. A., Hennessey, K. C., et al. (2025) · American Journal of Preventive Cardiology · doi:10.1016/j.ajpc.2025.101275 · Cited by 2
“Familial Hypercholesterolemia (FH) is a common (1/250 to 1/300) autosomal dominant genetic disease of cholesterol metabolism that is associated with the development and progression of atherosclerotic cardiovascular disease (ASCVD) [1].”
JCL Roundtable: Diagnosis of severe familial hypercholesterolemia
Brown, W. V., Rader, D. J., & Kane, J. P. (2013) · Journal of clinical lipidology · doi:10.1016/j.jacl.2013.08.003 · Cited by 2
Atherosclerosis progression in patients with autosomal dominant hypercholesterolemia in clinical practice
Jarauta, E., Mateo‐Gállego, R., Bea, A. M., Crespo, M., Ballester, A., Rubio, M. V. R., Baila-Rueda, L., Calmarza, P., Cenarro, A., de Groot, E., et al. (2014) · Journal of clinical lipidology · doi:10.1016/j.jacl.2014.06.002 · Cited by 2
Dyslipidaemia among children and adolescents in Pakistan: a five-year retrospective cohort study based on laboratory data
Ain, Q., Nawaz, A., Khan, M., Šikonja, J., Batool, H., Zaheer, R., Khan, M. I., Ajmal, M., Sadiq, F., & Grošelj, U. (2025) · Lipids in Health and Disease · doi:10.1186/s12944-025-02529-2 · Cited by 2
Hipercolesterolemia familiar en 2 hermanos mellizos nacidos por fecundación in vitro con semen y óvulos de donante
Rubio, P. A., Armada, A. M., García, E. C., & Galán, I. R. (2020) · Anales de Pediatría · doi:10.1016/j.anpedi.2020.01.021 · Cited by 2
Attainment of Low-Density Lipoprotein Cholesterol Targets and Prescribing Pattern of Lipid-Lowering Medications among Patients with Familial Hypercholesterolemia Attending Specialist Clinics
Chua, Y.-A., Nazli, S. A., Rosman, A., Kasim, S. S., Ibrahim, K. S., Radzi, A. B. M., Kasim, N. A. M., & Nawawi, H. M. (2022) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.63389 · Cited by 2
Role of apheresis in the management of familial hypercholesterolemia and elevated Lp(a) levels
Allian-Sauer, M. U., & Falkoŏ, J. M. (2011) · Clinical Lipidology · doi:10.2217/clp.11.43 · Cited by 2
Statins and Primary Prevention of Cardiovascular Disease in Women
Ijioma, N., & Robinson, J. G. (2013) · American Journal of Lifestyle Medicine · doi:10.1177/1559827613504536 · Cited by 2
Optimal Treatment using Statins from Childhood in Heterozygous Familial Hypercholesterolemia
Nohara, A. (2015) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.ed025 · Cited by 2

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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