Executive Summary
Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

https://doi.org/10.1016/j.jacl.2011.04.003Get rights and content

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.

Section snippets

Background and rationale

The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe elevations of blood cholesterol levels. Although the term FH has, in the past, been used to refer specifically to LDL receptor (LDLR) defects, this document will use a broader definition to reflect discoveries of defects in the genes for apolipoprotein (Apo) B, proprotein convertase subtilisin/kexin type 9 (PCSK9), and possibly others yet to be described, which produce severe hypercholesterolemia and

Concluding statements

FH is a difficult to treat but manageable disease. Primary care clinicians should be aware of the key role they play in the early detection and treatment of FH, and of the availability of additional support and guidance from lipid specialists who have undergone intensive training in the management of lipid disorders. Key elements for control of FH include reducing the LDL cholesterol concentration, management of additional CHD risk factors, such as elevated blood pressure and smoking, and

Acknowledgments

The paper, “Familial Hypercholesterolemia: Screening, Diagnosis and Management of Pediatric and Adult Patients—Clinical Guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia” has been endorsed by the American Society for Preventive Cardiology, Association of Black Cardiologists, International Cholesterol Foundation, and the Preventive Cardiovascular Nurses Association.

The authors would like to thank Mary R. Dicklin, PhD, and Kevin C. Maki, PhD, for writing

Cited by (0)

This article also appears in Volume 5, Issue 3 (May/June 2011) of the Journal of Clinical Lipidology.

View full text