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50年前,Carl Muller(1939)首次综合性地描述了家族性高胆固醇血症,证实这种病属于显性遗传,伴发早发性冠心病。这种先天性缺陷约占群体的1/500,现在已经清楚是由于细胞表面低密度脂蛋白受体显著减少,导致了动脉粥样化低密度脂蛋白(LDL)和LDL载脂蛋白apoB在血浆中含量增加。假如家族性高胆固醇血症在症状出现前的早期就能被鉴定出来,就能够提供切实可行的措施,预防血管并发症的前景可望得到改观。根据掌握的材料,动脉粥样硬化形成起
Fifty years ago, Carl Muller (1939) first described familial hypercholesterolemia for the first time, confirming that the disease was dominant and associated with premature coronary heart disease. This congenital defect, which accounts for about 1/500 of the population, is now clearly due to a significant decrease in low density lipoprotein receptor on the cell surface, leading to atherogenic low density lipoprotein (LDL) and LDL apolipoprotein apoB in plasma In the increase. If familial hypercholesterolemia can be identified early in the symptoms, it can provide practical measures to prevent the future of vascular complications is expected to be improved. According to the material at hand, atherosclerosis develops