Keller C, Lohmöller G, Schmitz H
MMW Munch Med Wochenschr. 1980 Nov 28;122(48):1717-20.
In patients dying in adolescence with familial hypercholesterolemia a combination of xanthomata of the skin and tendons, atheromatous plaques on the aortic and mitral valves, the coronary artery outlets and in the proximal aorta is frequently found. However, little is known of the sequence of these changes or their clinical equivalents. For this reason findings are described in two patients whose homozygous familial hypercholesterolemia is confirmed by studies of the cell biochemistry of the dermal fibroblasts after an observation period of eight and twelve years.
在死于青春期的家族性高胆固醇血症患者中，常发现皮肤和肌腱的黄色瘤、主动脉瓣和二尖瓣、冠状动脉出口及主动脉近端的动脉粥样硬化斑块。然而，对于这些病变的发生顺序或其临床对应情况知之甚少。因此，本文描述了两名患者的研究结果，在经过8年和12年的观察期后，通过对皮肤成纤维细胞的细胞生物化学研究，证实了他们患有纯合子家族性高胆固醇血症。
