De Gennes J L, Turpin G, Truffert J
Ann Med Interne (Paris). 1977 Apr;128(4):315-24.
Based on 500 case histories, the writers discuss the main clinical signs, cardiovascular complications, lipide, glucide, and puride anomalies, and the genetic transmission observed in mixed hyperlipidemia. They stress a certain number of criteria which enable them to make mixed hyperlipidemia a specific clinical, highly frequent, and extremely formidable form of essential hyperlipidemia, falling between hyprecholesterolemia of type IIIa and endogenous hypertriglyceridemia of type IV. The variability of the electrophoretic phenotype from one patient to another, and in the same patient from one day to another, leads them to recommend a classification based on the values of plasma lipide fractions. A predominately late appearing genetic transmission of the autosome type supports this view.
基于500例病史,作者们讨论了主要临床体征、心血管并发症、脂质、糖类及嘌呤异常情况,以及在混合型高脂血症中观察到的遗传传递现象。他们强调了一些标准,这些标准使他们能够将混合型高脂血症确定为原发性高脂血症中一种特定的、临床常见且极其严重的形式,介于Ⅲa型低胆固醇血症和Ⅳ型内源性高甘油三酯血症之间。从一个患者到另一个患者,以及同一个患者在不同时间电泳表型的变异性,使他们建议基于血浆脂质组分的值进行分类。常染色体类型中主要为晚发性的遗传传递支持了这一观点。