Kamiya T, Sugihara T, Ogata K, Saito H, Suzuki K, Nishioka J, Hashimoto S, Yamagata K
Blood. 1986 Feb;67(2):406-10.
We found a new thrombophilic tendency in a family with protein S deficiency. The propositus, a 38-year-old Japanese man, is an offspring of consanguineous marriage and suffered from recurrent episodes of thromboembolism. Hemostatic studies, including platelet counts, platelet aggregation, assays of coagulation factors, and plasminogen activity were all within normal limits. The levels of antithrombin III, alpha 2-macroglobulin, protein C, and protein C inhibitor were also normal. However, functional protein S activity in plasma was markedly decreased (9%) in the propositus. The family study revealed that the reduced levels of functional protein S, less than 5% to 29% of normal (normal range: mean +/- 2 SD of 15 normal adults were 44 to 180%), were found in 11 members of this family over three generations. Six of 11 members had severe protein S deficiency (less than 5%), whereas five had partial deficiency. Four of eight adults with protein S deficiency had recurrent episodes of thrombosis. Immunologic levels of protein S antigen were variable in this family and did not correlate closely with the functional levels. These results suggest that the recurrent thrombotic disease in this family appears to be associated with an inherited deficiency of functional protein S.
我们在一个患有蛋白S缺乏症的家族中发现了一种新的血栓形成倾向。先证者是一名38岁的日本男性，为近亲结婚的后代，患有复发性血栓栓塞症。包括血小板计数、血小板聚集、凝血因子检测和纤溶酶原活性在内的止血研究均在正常范围内。抗凝血酶III、α2-巨球蛋白、蛋白C和蛋白C抑制剂的水平也正常。然而，先证者血浆中功能性蛋白S活性显著降低（9%）。家族研究显示，在这个家族三代中的11名成员中发现功能性蛋白S水平降低，低于正常水平的5%至29%（正常范围：15名正常成年人的平均值±2标准差为44%至180%）。11名成员中有6名患有严重的蛋白S缺乏症（低于5%），而5名患有部分缺乏症。8名患有蛋白S缺乏症的成年人中有4名有复发性血栓形成发作。该家族中蛋白S抗原的免疫水平各不相同，与功能水平没有密切相关性。这些结果表明，这个家族中的复发性血栓性疾病似乎与功能性蛋白S的遗传性缺乏有关。
