Yamamura T
Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute.
Nihon Rinsho. 1993 Aug;51(8):2182-9.
Hyperlipidemia is first detected by an increase in the plasma concentrations of cholesterol and/or triglycerides, and implies an abnormality of plasma lipoprotein metabolism. Disorders of lipoprotein metabolism are often classified specifically according to the lipoprotein affected. The WHO classification of lipoprotein phenotypes is a useful means of showing which lipoproteins are present in excess in individual hyperlipidemic patients. Hyperlipoproteinemia can be secondary to other well-known diseases that affect plasma lipoprotein metabolism, for example, diabetes mellitus, hypothyroidism or nephrotic syndrome. When such diseases are excluded, the hyperlipoproteinemia is defined as primary hyperlipoproteinemia. Many primary hyperlipoproteinemias have a genetic basis and the underlying molecular defect has been clarified in some genetic disorders. Hyperlipoproteinemia is considered to be one of the major risk factors for atherosclerosis and the development of atherosclerosis depends on the type of hyperlipoproteinemia. In this sense, familial hypercholesterolemia is a clinically important primary hyperlipoproteinemia because of its high risk of ischemic heart disease and its high prevalence in a normal population (1/500). It is necessary to make an exact diagnosis of specific genetic disorder, if possible, to provide prognostic and therapeutic information.
高脂血症首先通过血浆胆固醇和（或）甘油三酯浓度升高被检测到，这意味着血浆脂蛋白代谢异常。脂蛋白代谢紊乱通常根据受影响的脂蛋白进行具体分类。世界卫生组织的脂蛋白表型分类是一种有用的方法，可显示个体高脂血症患者中哪些脂蛋白过量存在。高脂蛋白血症可能继发于其他影响血浆脂蛋白代谢的已知疾病，例如糖尿病、甲状腺功能减退或肾病综合征。当排除这些疾病时，高脂蛋白血症被定义为原发性高脂蛋白血症。许多原发性高脂蛋白血症具有遗传基础，并且在一些遗传性疾病中已经阐明了潜在的分子缺陷。高脂蛋白血症被认为是动脉粥样硬化的主要危险因素之一，动脉粥样硬化的发展取决于高脂蛋白血症的类型。从这个意义上说，家族性高胆固醇血症是一种临床上重要的原发性高脂蛋白血症，因为它有患缺血性心脏病的高风险且在正常人群中的患病率较高（1/500）。如果可能的话，有必要对特定的遗传疾病做出准确诊断，以提供预后和治疗信息。
