Familia hypercholesterolemia and multifactorial dyslipidemia are two conditions that cause abnormally high lipid levels in children, which can lead to premature cardiovascular events such as myocardial infraction and stroke. 

Heterozygous familial hypercholesterolemia is an autosomal dominant disorder that occurs in approximately 1 out of every 250 to 500 children and adolescents in the United States. Familial hypercholesterolemia is variably defined in the literature but generally includes highly elevated LDL cholesterol levels (e.g., ≥190 mg/dL), genetic mutation, or both. Heterozygous familial hypercholesterolemia causes severe elevations in LDL cholesterol, resulting in early atherosclerotic lesions. It is generally asymptomatic in childhood and is rarely associated with cardiovascular events in the first two decades of life. However, familial hypercholesterolemia can cause early cardiovascular morbidity and mortality in adulthood from cumulative exposure to high LDL cholesterol levels and atherosclerotic changes starting as early as age 8 years. 

Multifactorial dyslipidemia, due to both polygenic and environmental determinants such as obesity, is much more common. The prevalence in children and adolescents in the United States ranges from 7.1% to 9.4%. Multifactorial dyslipidemia includes elevated LDL cholesterol (≥130 mg/dL), total cholesterol (≥200 mg/dL), or both that are not the result of familial hypercholesterolemia. Obesity is associated with slight elevations in LDL cholesterol; it is more strongly related to elevated triglycerides and lower HDL cholesterol. Several longitudinal studies have documented an association between childhood lipid levels in this range and measures of atherosclerosis. Studies show that tracking lipid levels from childhood and adolescence to adulthood cannot predict which individuals will have elevated LDL or total cholesterol as adults.  In addition, the association between multifactorial dyslipidemia in childhood and adolescence and clinical cardiovascular disease in adulthood is unknown.

The rationale for screening for lipid disorders in children and adolescents is that early identification and treatment of elevated LDL cholesterol could delay the atherosclerotic process and thereby reduce the incidence of premature ischemic cardiovascular events in adulthood.

The American Academy of Pediatrics, the American Heart Association, and the American College of Cardiology recommend universal childhood lipid screening at ages 9 to 11 years and again at ages 17 to 21 years. 

In 2023, the United States Preventive Services Task Force (USPSTF) issued its latest recommendation on childhood lipid screening based on an updated review of evidence. As in 2007 and 2016, the task force again found evidence insufficient to recommend for, or against, screening for lipid disorders in childhood. They also found inadequate evidence to assess the harms of screening for familial hypercholesterolemia or multifactorial dyslipidemia.

Reference

US Preventive Services Task Force, Screening for Lipid Disorders in Children and Adolescents: US Preventive Services Task Force Recommendation Statement, JAMA July 18, 2023;330(3);253-260. Dot:10.1001/jama.2023.11330.


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