Universal pediatric lipid screening: preventing future cardiovascular disease in high-risk children

Abstract

Case 1: 11-year-old boy at a routine well-child visit A review of systems is negative. He plays three sports and maintains an optimal diet through his mother’s efforts and, recently, his own volition. His paternal grandfather died at age 40 years in a work-related accident. There is no known family history of lipid disorders. Examination shows normal BMI, normal blood pressure and no other abnormalities. Upon lipid screening, he is noted to have nonfasting non-HDL-C of 255 mg/dl. Upon fasting lipid profile, his LDL-cholesterol (LDL-C) is 240 mg/dl. His parents are subsequently tested and his 33-year-old father is noted to have a LDL-C of 250 mg/dl. In this patient, there were no features that would have triggered concerns for hyperlipidemia, such as a family history of hyperlipidemia or early atherosclerotic events. Despite an optimal lifestyle, he has dramatically elevated LDL-C due to a genetic dyslipidemia, heterozygous familial hypercholesterolemia (FH). The approximately 1 in 500 children born with FH demonstrate persistently elevated LDL-C concentrations of at least 160 mg/dl and typically over 200 mg/dl. Approximately 50% of affected men and 20% of affected women experience coronary heart disease events by the age of 50 [2,3]. Multiple studies have shown that relying on a family history of CVD events or hyperlipidemia to trigger screening is insufficiently sensitive and may miss 30–60% of affected children owing to a lack of knowledge about the family history, lack of In November 2011, after a systematic review of the relevant literature, the National Heart Lung, and Blood Institute (NHLBI) Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents published evidence-based, integrated guidelines on preventing cardiovascular disease (CVD) by reduction of athero sclerotic disease risk factors in children and adolescents [1]. These guidelines encourage the broad adoption of healthy behavioral patterns, beginning in childhood, to prevent the development of athero sclerotic CVD risk factors – so-called ‘primordial prevention’. The guidelines endorse a healthy diet and activity patterns at a population level, as well as the individual practitioner–child–family unit as cornerstones of CVD prevention. Predicated upon evidence linking childhood CVD risk factors to adult risk factor prevalence, subclinical athero sclerosis and CVD events, the panel also comprehensively updated and rationally extended a number of previous guidelines advocating individual -level identification and management of CVD risk factors including nutrition, physical activity, tobacco exposure, elevated blood pressure, obesity, diabetes mellitus and metabolic syndrome. One significant extension pertained to lipid disorders, where the panel recommended screening of all children once between 9 and 11 years of age with a nonfasting non-HDL-cholesterol (HDL-C). This recommendation was designed to identify those children with extreme lipid abnormalities, usually due to a genetic dyslipid emia, in whom the risk of early CVD is established and treatment is available. When abnormal values are confirmed, identified children should be treated with targeted nutritional changes, physical activity and, when