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因子V莱顿血栓形成倾向:三例病例报告及文献综述

Factor V Leiden thrombophilia: presentation of three patients and a literature review.

作者信息

Cruz-Amy Marinely, Hunter-Mellado Robert

机构信息

Department of Internal Medicine, Universidad Central del Caribe, School of Medicine, Hospital Universitario Ramon Ruiz Arnau, Bayamón, PR.

出版信息

Bol Asoc Med P R. 2006 Jul-Sep;98(3):213-21.

PMID:19610561
Abstract

Hypercoagulable states represent a condition with multiple etiologies in which an interplay of acquired and congenital coagulation defects contribute to abnormal clotting. Several of the thrombophilic disorders are relatively prevalent; one person may have multiple defects, leading to thrombosis without obvious external stimuli. Factor V Leiden thrombophilia is the most common inherited form of thrombophilia and it is occasionally associated with the anomalous prothrombin G20210A mutations. We presents three puertorrican middle-aged females diagnosed with Factor V Leiden after debuting with abnormal clotting events. They shared the common traits of being female, having been born in Puerto Rico, and having parents of European descent. The first two cases presented with deep venous thrombosis of lower and upper extremities, and both had the association of Factor V Leiden and prothrombin G20210A mutation. The third case presented with a cerebrovascular accident, evidencing arterial thrombosis, after receiving estrogen replacement therapy. This report adds Factor V Leiden as a cause of hypercoagulable states in puertorrican patients.

摘要

高凝状态是一种具有多种病因的病症,其中获得性和先天性凝血缺陷的相互作用导致异常凝血。几种血栓形成倾向疾病相对普遍;一个人可能有多种缺陷,导致在没有明显外部刺激的情况下发生血栓形成。因子V莱顿血栓形成倾向是最常见的遗传性血栓形成倾向形式,它偶尔与异常的凝血酶原G20210A突变相关。我们报告了三名波多黎各中年女性,她们在首次出现异常凝血事件后被诊断为因子V莱顿。她们具有女性、出生在波多黎各且父母为欧洲血统的共同特征。前两例表现为下肢和上肢深静脉血栓形成,且均伴有因子V莱顿和凝血酶原G20210A突变。第三例在接受雌激素替代治疗后出现脑血管意外,证实为动脉血栓形成。本报告补充了因子V莱顿作为波多黎各患者高凝状态病因的内容。

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