Stead N W, Bauer K A, Kinney T R, Lewis J G, Campbell E E, Shifman M A, Rosenberg R D, Pizzo S V
Am J Med. 1983 Jan;74(1):33-9. doi: 10.1016/0002-9343(83)91115-4.
A family is described in which venous thrombosis developed in five members as early as 14 years of age. Routine coagulation studies, plasma antithrombin III, factor V, plasminogen, beta-thromboglobulin, fibrinopeptide A, prothrombin fragment F1+2, and thrombin-antithrombin III complex were all within normal limits. However, defective release of vascular plasminogen activator was observed on several occasions in all five subjects as compared with a control population of 125 persons (0.04 Committee on Thrombolytic Agents [CTA] units/ml plasma as compared with 0.21 CTS units/ml). In addition, levels of factor VII/von Willebrand's factor were significantly elevated above the normal range in this pedigree.
有一个家族,其中五名成员早在14岁时就出现了静脉血栓形成。常规凝血研究、血浆抗凝血酶III、因子V、纤溶酶原、β-血小板球蛋白、纤维蛋白肽A、凝血酶原片段F1+2以及凝血酶-抗凝血酶III复合物均在正常范围内。然而,与125人的对照人群相比,在所有五名受试者中均多次观察到血管纤溶酶原激活剂释放存在缺陷(血浆中为0.04溶栓剂委员会[CTA]单位/毫升,而对照为0.21 CTS单位/毫升)。此外,在这个家系中,因子VII/血管性血友病因子水平显著高于正常范围。