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J Clin Lipidol. 2011 May-Jun;5(3):133-140. doi: 10.1016/j.jacl.2011.03.001. Epub 2011 Mar 11.

Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

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Washington University Medical School, St. Louis, MO, USA. Electronic address:
Cardiovascular Disease Risk Reduction Clinic, University of Utah School of Medicine, Salt Lake City, UT, USA.
Sterling Rock Falls Clinic, Ltd., CGH Medical Center, University of Illinois School of Medicine, Sterling, IL, USA.
Section of Atherosclerosis and Vascular Medicine, Center for Cardiovascular Disease Prevention, Baylor College of Medicine, Houston, TX, USA.
University of Pennsylvania, Philadelphia, PA, USA.
University of Iowa, Lipid Research Clinic, Prevention Intervention Center, University of Iowa, Iowa City, IA, USA.
Department of Pediatrics, University of Colorado School of Medicine, The Children's Hospital, Aurora, CO, USA.
Nemours Cardiac Center, A.I. DuPont Hospital for Children, Wilmington, DE, USA.
Preventive Cardiology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.
Oregon State University/Oregon Health & Science University, Portland, OR, USA.
Cholesterol Treatment Center, Concord Hospital, Concord, NH, USA.
University of Kansas Medical Center, Kansas City, KS, USA.
Lipoprotein and Metabolic Disorders Institute, Wake Forest University School of Medicine, Raleigh, NC, USA.
University of Pennsylvania Health System, Philadelphia, PA, USA.
Florida Lipid Institute, Winter Park, FL, USA.


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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