Venous thrombosis associated with gene deletion of tissue factor pathway inhibitor.
Venous thrombosis associated with gene deletion of tissue factor pathway inhibitor.
复制标题
与组织因子途径抑制剂基因缺失相关的静脉血栓形成。
DOI：
10.1002/ajh.21542
复制
发表时间：
2009
影响因子：
12.8
通讯作者：
Trenor3rd,CameronC
中科院分区：
文献类型：
--
作者：
Kentsis,Alex;Bradwin,Gary;Miller,DavidT;Trenor3rd,CameronC
Tissue factor pathway inhibitor (TFPI) is an anticoagulant that acts by directly inhibiting factor Xa and inactivating the factor VIIa/TF catalytic complex responsible for the initiation of coagulation [1]. In addition, TFPI activity is potentiated by protein S, essential component of the protein C pathway that downregulates thrombin formation and is associated with the most common genetic cause of thrombophilia, activated protein C resistance due to factor V Leiden mutation [2]. It has been proposed that the prothrombotic tendency of patients with protein S deficiency, in part, may be due to concomitant TFPI deficiency, but this is yet to be demonstrated [3]. The effects of TFPI loss in humans have not been described, but studies of mice with TFPI gene deletion suggest that it may contribute to thrombosis [4].Here, we describe a patient with a chromosomal deletion, including the TFPI gene, who developed deep venous thrombosis. The patient is an 18-year-old male with developmental delay, blindness, microcephaly, foot syndactyly, spastic paresis and scoliosis, and interstitial deletion of chromosome 2q32. He underwent an uncomplicated surgical fusion of his thoracolumbar spine, without prophylactic anticoagulation, and on postoperative day 15 was noted to have right extremity swelling. Ultrasonography and venography revealed extensive deep venous thrombosis of the right external iliac and femoral veins, with extension to the inferior vena cava, without evidence of abnormalities of vascular anatomy. The patient has tolerated numerous episodes of postsurgical immobilization in the past without anticoagulation and thrombotic complications. No family history of thromboembolic disease, stroke, myocardial infarction, or recurrent miscarriage was identified. Evaluation for possible thrombophilia revealed normal prothrombin and activated partial thromboplastin times, fibrinogen level, and antithrombin activity, as well as the absence of activated protein C resistance, prothrombin gene G20210A mutation, antiphospholipid antibodies, and hyperhomocysteinemia (Table I). Testing for possible inherited deficiencies of protein C and S revealed normal protein C and S activities in both of his parents (Table I).
