Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents |
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Institution: | 1. Key Laboratory of Watershed Geographic Sciences, Nanjing Institute of Geography and Limnology, Chinese Academy of Sciences, Nanjing 210008, China;2. University of Chinese Academy of Sciences, Beijing 100049, China;3. School of Law and Sociology, University of Sanya, Sanya 572022, China;1. Department of Internal Medicine, Gyeongsang National University School of Medicine, Jinju, Republic of Korea.;2. Gyeongsang Institute of Health Sciences, Gyeongsang National University, Jinju, Republic of Korea.;3. Department of Diagnostic Radiology, Gyeongsang National University School of Medicine, Jinju, Republic of Korea. |
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Abstract: | Heterozygous familial hypercholesterolemia (FH) is completely expressed at birth and early in childhood by significant elevations in plasma total and tow density lipoprotein (LDL) cholesterol levels. High density lipoprotein cholesterol can be low in such FH children; the triglyceride levels are usually within the normal range. Screening of children for heterozygous FH using a LDL cholesterol level is reasonably efficient in families with known FH, but for general population screening, the LDL cholesterol level is often too nonspecific. Screening of offspring with a positive family history of premature coronary artery disease will provide a panoply of different lipoprotein phenotypes, reflecting the presence of other genetic conditions, including familial combined hyperlipidemia. Guidelines have been developed by the National Cholesterol Education Program (NCEP) Expert Panel on Blood Cholesterol levels in Children and Adolescents to assist in the evaluation and treatment of children with high LDL cholesterol levels. Although heterozygous FH probably counts for ≤5% of premature coronary artery disease, its identification and treatment are important, because FH often causes marked premature coronary artery disease early in adulthood, and can be successfully treated with a combined dietary and drug approach. |
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