PDF(Pubmed)
Abstract：
Combined thrombophilia represents 7.8-8.3% of the patients with thrombophilia and confers a higher risk for thrombosis development and recurrence. Here, we present a 17-year-old boy carrier of three congenital thrombophilias, two severe (type I antithrombin deficiency and type I protein S deficiency) and one prothrombotic polymorphism (prothrombin G20210A), all in heterozygosis. He developed an extensive deep venous thrombosis in lower left limb, reaching proximal inferior vena cava and contralateral iliac vein, in the setting of prolonged rest. Endovascular therapy with local thrombolytic agent infusion followed by mechanical thrombectomy was performed, achieving a favorable clinical and radiological evolution. Antithrombin replacement to achieve levels between 80% and 120% with heparin administration was used during the endovascular procedure. The patient is currently asymptomatic and maintains indefinite anticoagulation with warfarin, keeping an appropriate anticoagulation range (international normalized range between 2.5 and 3.5).
摘要：
合并血栓形成倾向占血栓形成倾向患者的7.8-8.3％，并且血栓形成和复发的风险更高。这里,我们介绍了一名17岁的男孩携带三种先天性血栓性疾病，两个严重（I型抗凝血酶缺乏症和I型蛋白S缺乏症）和一个血栓前多态性（凝血酶原G20210A），都是杂合子。他在左下肢出现了广泛的深静脉血栓,到达近端下腔静脉和对侧髂静脉，在长时间休息的情况下。进行血管内治疗，局部溶栓药物输注，然后进行机械血栓切除术，实现良好的临床和放射学演变。在血管内手术期间使用抗凝血酶替代以通过肝素施用达到80％至120％之间的水平。该患者目前无症状，并维持华法林无限期抗凝，保持适当的抗凝范围（国际标准化范围在2.5至3.5之间）。
