Stähelin H B, Buchmann P, Strub P, Göschke H, Thiel G, Koller F
Schweiz Med Wochenschr. 1976 Sep 25;106(39):1301-12.
A family with familial combined hyperlipidemia (multiple-lipoprotein type hyperlipidemia) was investigated with regard to mode of inheritance, phenotypic expression, presence of genetic markers, and biochemical parameters related to lipid metabolism. The family of 22 subjects (13 males, 9 females) was composed of 5 type IIa, 8 type IIb, 1 type IV hyperlipoproteinemias and 5 normolipidemics. The distribution of serum cholesterol and serum triglyceride concentration was bimodal. No relationship was observed between hyperlipidemia and blood groups or histocompatibility antigens. Subjects with high HLA 8 or W 15 had, on the average, higher lipid levels than others. However, these antigens were observed in normolipidemics too. The response to therapy with alufibrate (2g/day) was not uniform. Subjects with marked triglyceride lowering exhibited only moderate cholesterol lowering, and marked cholesterol lowering was associated with poor triglyceride lowering. The reduction in serum lipids was observed in unaffected family members as well. It is therefore concluded that alufibrate does not exert an effect on the defect in familial combined hyperlipidemia but on some unspecific sites probably on lipoprotein lipase. The familial combined hyperlipidemia appears to be transmitted in an autosomal dominant mode and very probably determined by more than one gene.
对一个患有家族性混合型高脂血症（多脂蛋白型高脂血症）的家庭进行了关于遗传方式、表型表达、遗传标记的存在以及与脂质代谢相关的生化参数的研究。这个由22名受试者（13名男性，9名女性）组成的家庭中，有5例IIa型、8例IIb型、1例IV型高脂蛋白血症患者以及5例血脂正常者。血清胆固醇和血清甘油三酯浓度的分布呈双峰型。未观察到高脂血症与血型或组织相容性抗原之间存在关联。HLA 8或W 15较高的受试者，其血脂水平平均高于其他人。然而，血脂正常者中也观察到了这些抗原。对氯贝丁酯（2克/天）治疗的反应并不一致。甘油三酯显著降低的受试者，胆固醇仅适度降低，而胆固醇显著降低的受试者，甘油三酯降低效果不佳。未受影响的家庭成员的血脂也出现了降低。因此得出结论，氯贝丁酯对家族性混合型高脂血症的缺陷没有作用，而是可能作用于脂蛋白脂肪酶等一些非特异性位点。家族性混合型高脂血症似乎以常染色体显性模式遗传，很可能由多个基因决定。
