Fuchs G, Egbring R, Havemann K
Blut. 1977 Feb;34(2):107-18. doi: 10.1007/BF00999857.
A new case of congenital dysfibrinogenemia has been discovered in a 20 year old woman, who suffered from a severe postpartal hemorrhage after the delivery of her first child, followed by episodes of thrombosis. Coagulation studies reveal a prolongation of thrombin time, reptilase time was immeasurable. Thromboplastin time and partial thromboplastin time were slightly prolonged. Low fibrinogen levels were obtained by techniques, which depend on the coagulation velocity following addition of thrombin, while immunological procedures gave slightly diminished values of fibrinogen. Patients's fibrinogen had a moderate inhibitory effect on the fibrin formation in normal plasma. However, inhibitors of the fibrinogen-fibrin conversion could not be detected. Coagulation factors were normal, fibriolysis as well. The cause of the coagulation disorder was found to be a defect of the fibrinogen molecule, leading to an abnormal fibrin polmerization of patient's fibrin monomers. The release of the fibrinopeptides in the paperelectrophoresis was normal. The defect of the fibrinogen molecule did not protect from thrombotic complications. The same defect could be found in the lower scale in patient's father, 4 of her 7 brothers and sisters, and her son.
一名20岁女性被发现患有先天性纤维蛋白原异常血症，她在生下第一个孩子后出现严重产后出血，随后又出现血栓形成。凝血研究显示凝血酶时间延长，爬虫酶时间无法测定。凝血活酶时间和部分凝血活酶时间略有延长。通过依赖添加凝血酶后凝血速度的技术检测到纤维蛋白原水平较低，而免疫程序得出的纤维蛋白原值略有降低。患者的纤维蛋白原对正常血浆中的纤维蛋白形成有中度抑制作用。然而，未检测到纤维蛋白原 - 纤维蛋白转化的抑制剂。凝血因子正常，纤维蛋白溶解功能也正常。发现凝血障碍的原因是纤维蛋白原分子缺陷，导致患者纤维蛋白单体的纤维蛋白聚合异常。纸电泳中纤维蛋白肽的释放正常。纤维蛋白原分子缺陷并不能预防血栓并发症。在患者的父亲、她7个兄弟姐妹中的4个以及她的儿子身上也能发现程度较轻的相同缺陷。
