Petäjä J, Rasi V, Vahtera E, Myllylä G
Finnish Red Cross Blood Transfusion Service, Kivihaantie, Helsinki, Finland.
Br J Haematol. 1991 Oct;79(2):291-5. doi: 10.1111/j.1365-2141.1991.tb04535.x.
91 unrelated patients with idiopathic or familial deep vein thrombosis (DVT) and 72 (34 with DVT) relatives from 26 families were screened for hypofibrinolysis by measuring tissue plasminogen activator antigen (t-PA:Ag) after venous occlusion (VO) for 10 and 20 min and by measuring t-PA inhibitor activity (PAI) at rest. 21 healthy subjects served as controls. Defective release of t-PA:Ag was found in eight out of the 91 patients (9%). A partial family study of six of these eight patients was performed. This study included 10 family members with and 21 without DVT. A defective release of t-PA:Ag was found in 50% (5/10) of the family members with DVT, which is significantly more frequent than the 9% (8/91) prevalence in the unrelated patients (P less than 0.001). Furthermore, 24% (5/21) of asymptomatic members of these families also had defective release of t-PA:Ag. In the 18 families where the propositus had a normal level of t-PA:Ag, none of the 24 studied family members with DVT had defective release of t-PA:Ag. In contrast to the defective release of t-PA:Ag, increased basal level of PAI did not show familial clustering. In conclusion, low release of t-PA during VO shows familial clustering in a proportion of the cases.
对91例特发性或家族性深静脉血栓形成（DVT）患者以及来自26个家庭的72名亲属（其中34名患有DVT）进行了低纤溶筛查，通过在静脉闭塞（VO）10分钟和20分钟后测量组织纤溶酶原激活物抗原（t-PA:Ag）以及在静息状态下测量t-PA抑制剂活性（PAI）来进行。21名健康受试者作为对照。在91例患者中有8例（9%）发现t-PA:Ag释放缺陷。对这8例患者中的6例进行了部分家系研究。该研究包括10名患有DVT的家庭成员和21名未患DVT的家庭成员。在患有DVT的家庭成员中有50%（5/10）发现t-PA:Ag释放缺陷，这明显高于非相关患者中9%（8/91）的患病率（P小于0.001）。此外，这些家庭中24%（5/21）无症状成员也存在t-PA:Ag释放缺陷。在18个先证者t-PA:Ag水平正常的家庭中，24名患有DVT的研究家庭成员均未出现t-PA:Ag释放缺陷。与t-PA:Ag释放缺陷相反，PAI基础水平升高未显示出家族聚集性。总之，VO期间t-PA释放降低在部分病例中显示出家族聚集性。
