遗传性抗凝血酶缺陷症研究进展

AT缺陷是静脉血栓栓塞的主要遗传性危险因素,AT缺陷能够使血栓形成的危险增加数十倍,主要表现为静脉血栓的形成,多发生在下肢深静脉,其次为髂静脉,肠系膜静脉,动脉血栓少见。约2/3患者首次发病在10-35岁之间,且常常是一种无症状疾病,首次发作往往就可能致命。所以进一步研究AT缺陷导致易栓症的病因和发病机制,对于降低血栓性疾病引起的死亡率有着极其重要的意义。

The antithrombin(AT) deficiency is the main genetic risk factors for Venous thromboembolism, and it could increase the risk of thrombosis at least ten times, which of the main symptom is the formation of venous thrombosis. The AT deficiency mostly occur in deep vein of lower limb, followed by iliac vein and mesenteric venous and arterial thrombosis. About two-thirds of patients are 10~35 years old. The AT deficiency is often an asymptomatic disease, potentially deadly attacks are often by the first time. So we further researched the etiology and pathogenesis of AT deficiency, which has extremely important significance of reducing mortality caused by thrombotic disease.