Ueyama Y, Nozaki S, Yanagi K, Hiraoka H, Nakagawa T, Sakai N, Jiao S, Yamashita S, Matsuzawa Y
Second Department of Internal Medicine, Osaka University Medical School, Japan.
J Intern Med. 1994 Feb;235(2):169-74. doi: 10.1111/j.1365-2796.1994.tb01051.x.
We observed two patients with hypercholesterolaemia and tendon xanthomas associated with apolipoprotein (apoE-7) E-7, a rare variant of the apoE isoforms. Both suffered from coronary artery disease and had undergone a coronary bypass operation. Their cholesterol levels were 268 and 310 mg dl-1, respectively. Both patients had marked xanthomas in the Achilles tendons. Both also suffered from diabetes. Although their clinical and laboratory findings were compatible with typical familial hypercholesterolaemia (FH), the analysis of low-density lipoprotein (LDL) receptors in cultured fibroblasts showed no abnormality of binding, internalization or degradation of 125I-LDL. Diabetic control with a low-calorie, low-fat diet led to the rapid reduction of serum cholesterol. Other family members of the patients with apoE-7, who were normoglycaemic, showed normal cholesterol levels and no xanthomas. These findings suggest that coexistent diabetes mellitus may induce overt hyperlipidaemia and accumulation of lipids in tissues in subjects with apoE7.
我们观察了两名患有高胆固醇血症且伴有腱黄瘤的患者，他们携带载脂蛋白（apoE-7）E-7，这是一种罕见的载脂蛋白E亚型变体。两人均患有冠状动脉疾病并接受了冠状动脉搭桥手术。他们的胆固醇水平分别为268和310mg/dl。两名患者的跟腱均有明显的黄瘤。两人也都患有糖尿病。尽管他们的临床和实验室检查结果与典型的家族性高胆固醇血症（FH）相符，但对培养的成纤维细胞中低密度脂蛋白（LDL）受体的分析显示，125I-LDL的结合、内化或降解均无异常。采用低热量、低脂肪饮食控制糖尿病后，血清胆固醇迅速降低。apoE-7患者的其他血糖正常的家庭成员胆固醇水平正常，也没有黄瘤。这些发现表明，并存的糖尿病可能会在apoE7受试者中诱发明显的高脂血症和组织脂质蓄积。
