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[携带凝血因子V莱顿突变个体的临床发现]

[Clinical findings in individuals with the factor V Leiden mutation].

作者信息

Matýsková M, Vorlová Z, Hrachovinová I, Buliková A, Zavrelová J, Slechtová M

机构信息

Oddĕlení klinické hematologie FNsP, Brno-Bohunice.

出版信息

Vnitr Lek. 1997 May;43(5):298-301.

PMID:9601852
Abstract

Leiden mutation of the coagulation factor V is the most frequent known congenital risk factor of thrombophilia. The authors examined a group of 440 subjects with thrombosis in the case- or family-history. The mutation was found in 146. In 94 thrombotic manifestations were recorded in the case-history, five women were examined because of repeated abortions. 52.74% carriers of FVL had venous thrombosis of the lower extremities and pelvis in their case-history, 19.18% had pulmonary embolism in the case-history. In 27.40% during the initial manifestations of thrombosis no other risk factor of thrombosis was detected. In 10.27% the first thrombosis developed after an injury or operation. In 22.22% women the thrombosis was manifested during pregnancy or the puerperal period. Due to the high incidence of this defect screening of the resistance to activated protein C should be an integral part of examination of thrombophil conditions.

摘要

凝血因子V的莱顿突变是已知最常见的先天性血栓形成倾向危险因素。作者对一组440例有血栓形成病例或家族史的受试者进行了检查。在146例中发现了该突变。在94例病例记录中有血栓形成表现,5名女性因反复流产接受检查。FVL携带者中有52.74%在其病例记录中有下肢和骨盆静脉血栓形成,19.18%有肺栓塞病例记录。在27.40%的血栓形成初始表现中未检测到其他血栓形成危险因素。在10.27%的病例中,首次血栓形成发生在受伤或手术后。在22.22%的女性中,血栓形成发生在孕期或产褥期。由于这种缺陷的高发生率,活化蛋白C抵抗筛查应成为血栓形成倾向疾病检查的一个组成部分。

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