Risk Factors for Asian Thrombophilia

虽然日本血栓患者的体质背景尚未得到很好的检查，凝血因子V莱顿在日本血栓患者中未被检测到。我们一直在调查日本人口中患有深静脉血栓的患者的体质易感性。在本研究中，我们总结了我们对日本深静脉血栓患者的研究结果。日本深静脉血栓患者的蛋白S/蛋白C抗凝系统活性降低的发生率高得惊人。在58%的深静脉血栓患者中观察到蛋白S/蛋白C抗凝系统活性降低，而在7%的患者中观察到抗凝酶活性降低，这一水平与高加索患者的频率一致。对患者活动减少的相关因素进行基因分析（10-12）。蛋白S基因突变19例，其中蛋白S_<德岛>(K155E) 5例，蛋白C基因突变8例，抗凝血酶基因突变2例。我们的研究表明，日本深静脉血栓患者的遗传蛋白S异常频率明显高，是高加索患者的10倍，蛋白S/蛋白C抗凝系统异常是日本深静脉血栓形成的主要危险因素。值得注意的是，高加索深静脉血栓患者中V - Leiden因子的频率与日本深静脉血栓患者中蛋白S/蛋白C抗凝系统基因突变的频率相似。

Although the constitutional background of Japanese thrombotic patients has not been well examined, coagulation factor V Leiden is not detected in Japanese patients suffering from thromboses. We have been investigating constitutional predispositions of patients suffering from deep vein thrombosis in the Japanese population. In the present study, we summarize our results of Japanese patients suffering from deep vein thrombosis.A surprisingly high frequency of Japanese patients suffering from deep vein thrombosis have reduced activity in the protein S/protein C anticoagulation system. Reduced activity in the protein S/protein C anticoagulation system was observed in 58% patients with deep vein thrombosis, while reduced activity of antithrombin was noted in 7% patients, a level consistent with the frequency in Caucasian patients. Gene analyses were performed on the factors associated with patients having reduced activities (10-12). Nineteen patients had mutated protein S genes, including 5 patients having protein S_<Tokushima>(K155E), 8 patients had mutated protein C genes, and two patients had mutated antithrombin genes.Our study indicates that the frequency of inherited protein S abnormalities in Japanese patients suffering from deep vein thrombosis is significantly high, ten times higher than the frequency in Caucasian patients, and that abnormality of the protein S/protein C anticoagulation system is a major risk factor for deep vein thrombosis in Japan. It is interesting to note that the frequency of factor V Leiden in Caucasian deep vein thrombosis patients is similar to that of gene mutations of the protein S/protein C anticoagulalion system in Japanese deep vein thrombosis patients.