Screening for Hypercholesterolemia in Children: What Strategies Can Be Employed
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PEDIATRICS (S. GIDDING, SECTION EDITOR)
Screening for Hypercholesterolemia in Children: What Strategies Can Be Employed Lee A. Pyles 1 & Eloise Elliott 2 & William A. Neal 1
Published online: 1 February 2017 # Springer Science+Business Media New York 2017
Abstract Purpose of Review Familial hypercholesterolemia (FH) is an important, treatable cause of elevated LDL cholesterol that can be remediated to lower risk of premature coronary artery disease. Recent Findings Strategies for identification include universal screening, cascade screening of relatives of persons found with either early cardiovascular disease (CVD) or LDL-C consistent with FH, and big data approaches to identify persons with high cholesterol and premature CVD. Summary Universal screening of children is advocated to find FH at an early age with still asymptomatic parents and negative family history. Keywords Cholesterol . Children . Familial hypercholesterolemia . Low-density lipoprotein . Screening . Universal screening . Cascade screening . Big data
Introduction: Why Screen Cholesterol? Elevated levels of low-density lipoprotein (LDL) cholesterol are an important, remediable risk factor for coronary artery disease [1, 2•]. In this article, we will discuss screening This article is part of the Topical Collection on Pediatrics * Lee A. Pyles [email protected]
1
Department of Pediatrics, Section of Pediatric Cardiology, CARDIAC Project, West Virginia University School of Medicine, WVU Children’s Hospital, 1 Medical Center Drive, Box 9214, Morgantown, WV 26506-9214, USA
2
College of Physical Activity and Sport Sciences, PAS 269, 375 Birch St., P.O. Box 6116, Morgantown, WV 26505, USA
strategies to detect abnormal lipid levels due to familial hypercholesterolemia (FH) in children. These include universal screening for markedly elevated cholesterol levels caused by genetic mutations, secondary screening for persons exhibiting coronary artery disease at any age, screening to evaluate lipids in a person with remote or obscure family history of cardiovascular disease (CVD), and cascade screening of relatives of a person with very high LDL-C or an abnormal LDL-C gene. The persons of interest can exhibit abnormal lipid levels on the basis of a gene defect such as those identified with FH or a combination of environmental, personal, and genetic factors as in multifactorial dyslipidemia, plus metabolic disorders such as hypothyroidism and nephrotic syndrome. FH is thought to occur in approximately one in 250 persons. In adults, it is diagnosed from a combination of clinical and laboratory findings in the several diagnostic schema. These include the Make Early Diagnosis to Prevent Early Death (MEDPED) criteria introduced by Roger Williams in the USA, the Simon Broome diagnostic criteria from Great Britain, and the Dutch Lipid Clinic Network (DLCN) criteria [3, 4, 5••]. The DLCN includes values of LDL-C for adults, family and personal history of CVD, and results of genetic testing with different weights given to the criteria to arrive at an assessment
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