Studies on the susceptibility to coronary artery sclerosis in patients with familial hypercholesterolemia

我们研究了导致成年家族性高胆固醇血症（FH）患者冠状动脉硬化的因素。研究结果如下：1。40名受试者（21%）患有冠心病。在许多受试者（17/40例）中，疾病在50岁之前发生。chd的发生无性别差异。3 .冠心病患者家庭成员发生冠心病的频率与非冠心病患者无显著性差异。血清胆固醇水平超过400mg/dl的受试者患冠心病的频率更高。冠心病患者的高密度脂蛋白胆固醇水平较低。许多FH患者血清Lp(a)水平升高。然而，血清Lp(a)在冠心病患者和非冠心病患者之间没有差异。FH患者凝血-纤溶参数未见异常。在FH患者中，没有特异性HLA抗原与冠心病的发生相关。一名37岁患有冠心病的女性受试者被证明是LDL受体基因的新突变（缺失外显子9和10）。是否有特定的基因突变与冠心病的早期发展有关，还有待于进一步的研究。

We have studied the factors responsible for the development of coronary artery sclerosis in adult patients with familial hypercholesterolemia (FH). The results are as follows :1. Forty subjects (21%) had coronary heart disease (CHD). In many subjects (17/40cases), the disease developed before the age of 50 yr.2. No sex difference was observed for the development of CHD.3. Frequency of CHD among family members in subjects with CHD did not differ from that in subjects without CHD.4. Subjects with serum cholesterol levels of more than 400mg/dl showed higheer frequency of CHD.Subjects with CHD had low HDL-cholesterol levels.5. Many FH subjects had elevated serum levels of Lp(a). However, there was no difference in serum Lp(a) between subjects with and without CHD.6. No abnormalities were observed in blood coagulation-fibrinolysis parameters in FH subjects.7. No specific HLA antigen was related to the development of CHD in FH subjects.8. One female subject who had CHD in her age of 37 yr was shown to be a new mutant in the LDL receptor gene (deletion of exons 9 & 10). Whether any specific gene mutation relates to the early development of CHD remains to be assessed in future studies.