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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Per kilogram of body weight loss results in LDL-C reduced by about 0.8 mg/dL.
“per kilogram of body weight loss resulting in LDL-C reduced by about 0.8 mg/dL [37].”
From Effects of aerobic exercise on lipids and lipoproteins (2017) · cites this paper as [37]
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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
- Venue
- Journal of Clinical Lipidology
- Publisher
- Elsevier BV
- Published
- 2011-06
- Volume
- 5
- Issue
- 3
- Pages
- S1-S8
- ISSN
- 1876-4789 (ISSN-L)
- 1933-2874
- OpenAlex
- W2575600667
- Cited by
- 545
- References
- 5
- Citations by year
- 2026: 14 · 2025: 19 · 2024: 27 · 2023: 30 · 2022: 45 · 2021: 54 · 2020: 46 · 2019: 29 · 2018: 53 · 2017: 43 · 2016: 59 · 2015: 44 · 2014: 37 · 2013: 27 · 2012: 14
- FWCI
- 26.81
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of clinical lipidology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Merck
- Bristol-Myers Squibb
- Abbott Laboratories
- GlaxoSmithKline
- Daiichi-Sankyo
- Genzyme
- Amarin Corporation
- Takeda Pharmaceutical Company
- Novartis
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › 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
- Adolescent, Adult, Child, Coronary Disease, Female, Humans, Hyperlipoproteinemia Type II, Pregnancy, Risk Reduction Behavior
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