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Familial combined hyperlipidemia in children: clinical expression, metabolic defects, and management.

The first evidence that elevation of plasma levels of cholesterol is a risk factor for the development of atherosclerosis in children came from the Bogalusa Heart Study in 1986, which reported an association between aortic fatty streaks in 3- to 26-year-old subjects and increased plasma levels of low-density lipoprotein cholesterol (LDL-C). The most compelling evidence of a cause-and-effect relationship has come from the multicenter cooperative study called the Pathobiological Determinants of Atherosclerosis in Youth. When the investigators examined the abdominal aorta and the right coronary artery of adolescents and young adults who had died of trauma, they found a significant relationship between the sum of the very low density lipoprotein (VLDL) plus LDL-C level and both fatty streaks and raised atherosclerotic lesions. They also found an inverse relationship between those lesions and increased high-density lipoprotein cholesterol (HDL-C) levels. In addition, their studies showed that smoking (as assessed by the serum thiocyanate level) promotes atherogenesis in children as young as age 15 years. Thus many pediatricians have now accepted the importance of identifying children with significant hypercholesterolemia so that appropriate dietary and life-style modifications can be recommended. This is especially important because there is often a major genetic component to the hyperlipidemia seen in children.

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