Journal
JOURNAL OF CLINICAL LIPIDOLOGY
Volume 5, Issue 3, Pages 133-140Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacl.2011.03.001
Keywords
Familial hypercholesterolemia; LDL receptor; Apheresis; Cascade screening; Heterozygous; Heterozygote; Homozygous; Homozygote
Categories
Funding
- Abbott Laboratories
- Aegerion Pharmaceuticals
- Daiichi Sankyo
- Genzyme
- Kaneka Pharma America LLC
- Merck Co.
- American Diabetes Association
- American Heart Association
- AstraZeneca
- Bristol-Myers Squibb
- diaDexus
- GlaxoSmithKline
- Kowa Pharmaceuticals
- National Institutes of Health
- Novartis
- Roche/Genentech
- Sanofi-Synthelabo
- Takeda Pharmaceuticals
- Isis Pharmaceuticals
- Amarin
- ISIS-Genzyme Corporation
- Regeneron
- Hoffman LaRoche
- Merck Schering Plough
- Spirocor
- Genzyme Corporation
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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 CHID. (C) 2011 National Lipid Association. All rights reserved.
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