Takai Y, Hayashi H, Ishimaru F, Fujita T, Tsurumi N, Tsuda T, Kimura I
Rinsho Ketsueki. 1989 Nov;30(11):2035-40.
Combined deficiency of factor V and factor VIII, a rare bleeding disorder, was found in a 43 year-old male. He had often presented manifestations of easy bruising since childhood, but none of his family had shown evidence of a bleeding tendency. We examined him and his family as far as we could and his abnormality of blood coagulation was apparent, but the members of his family were normal. The prothrombin time and activated partial thromboplastin time of this patient were prolonged, but his thrombin time was normal. Factor V and factor VIII coagulant activity were low, but von Willebrand factor antigen and activity (ristocetin cofactor activity) levels were normal. Protein C and Protein C inhibitor antigen and activity levels were also found to be normal. Following 1-deamino-8-D-arginine vasopressin (DDAVP) injection, he had immediate increases in factor VIII coagulant activity, but both von Willebrand factor antigen, activity levels and factor V coagulant activity remained low. Moreover, there was no rapid decline in factor VIII complex activity. These findings suggest that the endogenous factor VIII in this patient is metabolized normally and that at least the deficiency of factor VIII does not result from accelerated degradation in plasma.
在一名43岁男性中发现了罕见的出血性疾病——凝血因子V和凝血因子VIII联合缺乏症。他自童年起就经常出现容易瘀青的表现，但他的家人均未表现出出血倾向的迹象。我们尽可能对他及其家人进行了检查，他的血液凝固异常明显，但他的家人凝血功能正常。该患者的凝血酶原时间和活化部分凝血活酶时间延长，但凝血酶时间正常。凝血因子V和凝血因子VIII的凝血活性较低，但血管性血友病因子抗原和活性（瑞斯托霉素辅因子活性）水平正常。蛋白C以及蛋白C抑制剂的抗原和活性水平也均正常。注射1-去氨基-8-D-精氨酸加压素（DDAVP）后，他的凝血因子VIII凝血活性立即升高，但血管性血友病因子抗原、活性水平以及凝血因子V凝血活性仍较低。此外，凝血因子VIII复合物活性没有迅速下降。这些发现表明该患者体内的内源性凝血因子VIII代谢正常，并且至少凝血因子VIII的缺乏并非由血浆中加速降解所致。
