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.
Keywords
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Reference
- Familial Hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J Clin Lipidol. 2011; 5: S9-S17
- Treatment of adults with Familial Hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J Clin Lipidol. 2011; 5: S18-S29
- Pediatric aspects of Familial Hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J Clin Lipidol. 2011; 5: S30-S37
- Management of Familial Hypercholesterolemias in adult patients: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J Clin Lipidol. 2011; 5: S38-S45
- Future issues, public policy, and public awareness of Familial Hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.J Clin Lipidol. 2011; 5: S46-S51
Article info
Publication history
Published online: March 14, 2011
Accepted:
March 4,
2011
Received:
March 2,
2011
Identification
Copyright
© 2011 National Lipid Association. Published by Elsevier Inc. All rights reserved.
