The DOI matches its Crossref record; 163 of the 163 references it cites were found in a registry or an index.
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients
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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“This risk is accelerated in the presence of other ASCVD risk factors (22,23).”
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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
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
Cholesterol Treatment Trialists' (CTT) Collaboration (2010) · The Lancet · doi:10.1016/s0140-6736(10)61350-5 · Cited by 6,550
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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Hu, Y., Wu, M., Yu, H., Wu, Q., Chen, Y., Zhang, J., Ruan, D., Zhang, Y.-P., Zou, J., Zhang, L., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0310547
Joshi, S., & Trivedi, D. (2024) · Antioxidants · doi:10.1002/9781394270576.ch5
Schubert, T. J., deRichemond, C., Karalis, D. G., & Jones, L. K. (2025) · Journal of clinical lipidology · doi:10.1016/j.jacl.2025.02.017
Health Disparities in Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia
Shustak, R. J., Perlstein, A., Artis, A. S., Zavez, A. E., Tam, V. W., Martino, G., & Brothers, J. A. (2025) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2025.114537
Genetic basis of inherited metabolic disorders
Akash, M. S. H., & Rehman, K. (2025) · Elsevier eBooks · doi:10.1016/b978-0-443-36312-2.00002-4
Treatment of dyslipidemia: PCSK-9 in focus
Lukač, S. S., Popović, L., Rasulić, I., Petakov, A., Bogdanović, J. M., Mitrović, M., Krstic, M., & Lalic, K. S. (2025) · Medicinska istrazivanja · doi:10.5937/medi0-55356
Fan, Y., Li, L., FAN, W., Gu, J., Sanchez, R. J., & Wong, N. D. (2025) · Journal of clinical lipidology · doi:10.1016/j.jacl.2025.10.074
Gandhi, G. D., Aamer, W., Krishnamoorthy, N., Syed, N., ALIYEV, E. E., Al-Maraghi, A., Kohailan, M., Alenbawi, J., Elanbari, M., Mifsud, B., et al. (2022) · Figshare · doi:10.6084/m9.figshare.21500707
Garapati, S., Kaliappan, A., Yellaboina, S., Saluja, R., & Varatharajan, S. (2026) · Singapore Medical Journal · doi:10.4103/singaporemedj.smj-2023-216
A case of presumed homozygous familial hypercholesterolemia
Speron, D., Soffer, D. E., Stone, N. J., & Wilsbacher, L. D. (2026) · Journal of clinical lipidology · doi:10.1016/j.jacl.2026.01.021
Dyslipidemia and therapies after heart transplantation: Current evidence and future directions
YADALAM, A. K., Gold, M. E., Patel, K., Razavi, A. C., Flowers, A., Seo, G., Britt, W. M., Eisenberg, S. D., Book, W. M., Rollins, J. B., et al. (2026) · Journal of clinical lipidology · doi:10.1016/j.jacl.2026.02.021
Rosenfeld, E. B., Kasatkin, N., Yu, B. L., Velinov, M. T., Brandt, J. S., & Ashkinadze, E. (2026) · Pregnancy · doi:10.1002/pmf2.70280
La dyslipidémie chez les enfants : le diagnostic, l’évaluation et la prise en charge
Khoury, M., Bigras, J., Cummings, E. A., Harris, K. C., Hegele, R. A., Henderson, M., Morrison, K. M., St‐Pierre, J., Wong, P. D., & McCrindle, B. W. (2026) · Paediatrics & Child Health · doi:10.1093/pch/pxag022
Islam, M. M., Alves, A. C., Graça, R., Chora, J. R., Bourbon, M., & Pfisterer, S. G. (2026) · medRxiv · doi:10.64898/2026.05.09.26352817
Ercegović, K. T., Glavaš, J., Sikirica, I., Vrdoljak, A., Tokić, H., Perasović, J., & Karin, Ž. (2026) · Children · doi:10.3390/children13070848
“Due to lifelong exposure to elevated cholesterol levels, individuals with FH have a substantially increased risk of premature cardiovascular disease compared with the general population [6].”
Liu, X., Fanous, M., Ponda, M., Qiang, W., Ni, L., Breskin, A., Yang, X., Riley, I. M., & Knox, C. A. (2026) · Journal of clinical lipidology · doi:10.1016/j.jacl.2026.07.032
Bajaj, A., McGuire, M., Shugg, S., Godin, R., & Underberg, J. A. (2026) · American Journal of Preventive Cardiology · doi:10.1016/j.ajpc.2026.101790
“1) [9,12,15, 30 – 34].”
Gaudet, D., Godin, R., Rosenson, R. S., & Watts, G. F. (2026) · Journal of clinical lipidology · doi:10.1016/j.jacl.2026.08.024
Paediatric familial hypercholesterolaemia in Australia: a real-world registry study
Martin, A. C., Srinivasan, S., Justo, R. N., Waddell-Smith, K. E., Sullivan, D., Horton, A., Chan, D. C., Pang, J., & Watts, G. F. (2026) · Archives of Disease in Childhood · doi:10.1136/archdischild-2026-331003
Islam, M. M., Alves, A. C., Graça, R., Chora, J. R., Bourbon, M., & Pfisterer, S. G. (2026) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2026.121921
Dietary Management of Hypercholesterolemia in Infants and Children
Hartman, C., & Shamir, R. (2012) · Humana Press eBooks · doi:10.1007/978-1-62703-254-4_24
Type 2 Diabetes, the Metabolic Syndrome and Dyslipidemia in Children and Adolescents
Pinhas‐Hamiel, O. (2011) · Yearbook of pediatric endocrinology · doi:10.1159/000330595
Metadata
- 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
- 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
- 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
- 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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