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One Family of Familial Combined Hyperlipidemia Associated with Various Metabolic Abnormalities

Other Title
다양한 대사적 이상을 나타낸 가족성 복합 고지혈증 가계 1예
이, 성규; 박, 지원; 김, 윤정; 홍, 은경; 채, 봉남; 정, 윤석; 이, 관우; 김, 현만
Journal of Korean Society of Endocrinology, 14(2):418-424, 1999
Journal Title
Journal of Korean Society of Endocrinology; 대한내분비학회지
Familial combined hyperlipidemia is one of the monogenic disorders frequently found

in humans and is seen in 0.5∼2% of the general population accounting for at least 10% of persons with premature atherosclerosis. The distinguishing feature of familial combined hyperlipidemia, in comparison with other single-gene abnormalities of lipoprotein metabolism, is that not all affected members have the same plasma lipid phenotype; some individuals haute an elevation of cholesterol concentration alone(type Ⅱ a lipoprotein pattern), while some others have an elevation of triglyceride concentration

atolls(type Ⅳ pattern), and still others have elevations of both values(type Ⅱb pattern).

In any one person the lipid phenotype can change as a result of dietary or drug

treatment. Familial combined hyperlipidemia should be suspected in those subject with

moderate hypertriglyceridemia and/or moderate hypercholesterolemia(lipoprotein types Ⅱa, Ⅱb, Ⅳ), especially when premature coronary heart disease is evident in the family history. Low plasma HDL-cholesterol, obesity, insulin resistance and hyperuricemia ate often present. Family members affected by familial combined hyperlipidemia should be identified and be treated, since the condition is associated with premature coronary heart diasease. We haute found ogle family of familial combined hyperlipidemia with one member(case 1) associated with insulin resistance, hyperuricemia and gout, and another member(case 2) associated with diabetes mellitus and infertility.
Familial Combined HyperlipidemiaInsulin ResistanceDiabetes Mellitus
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Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
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