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A Case of Familial Hypercholesterolemia with Diabetes Mellitus

Journal of the Korean Pediatric Society 1997;40(6):862-866.
Published online June 15, 1997.
A Case of Familial Hypercholesterolemia with Diabetes Mellitus
Yong Kyu Sohn, Kee Young Chang, Kee Hyoung Lee, Young Chang Tockgo
Department of Pediatric Medicine, College of Medicine, Korea University, Seoul, Korea
당뇨병을 동반한 가족성 고콜레스테롤혈증 1례
손용규, 장기영, 이기형, 독고영창
고려대학교 의과대학 소아과학교실
Abstract
Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which occurs from the mutation of genes that regulates low-density lipoproteins(LDL), and is classified into two types, the homozygote presented abnormal genes from both parents and the heterozygote presented an abnormal gene from each parent. Type IIa familial hypercholesterolemia is characterized by, especially, increased level of LDL which is common type and normal level of high-density lipoproteins. The clinical signs are arterosclerosis, xanthoma of the Achilles tendons and the arcus cornea. The treatments are dietary and drug therapy. This report is a case of familial hypercholesterolemia diagnosed as type IIa hyperlipoproteinnemia with Insulin Dependent Diabetes Mellitus.
Key Words: Familial hypercholesterolemia, Diabetes mellitus


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