评价杂合子形式因子 V 莱顿突变患者的复发性静脉血栓栓塞症。

Evaluation of recurrent venous thromboembolism in patients with Factor V Leiden mutation in heterozygous form.

机构信息

University of Lund, Skåne University Hospital, Malmö, Sweden.

出版信息

Thromb Res. 2012 Sep;130(3):467-71. doi: 10.1016/j.thromres.2012.03.020. Epub 2012 Apr 17.

DOI:10.1016/j.thromres.2012.03.020

PMID:22512897

Abstract

INTRODUCTION

To evaluate the risk for recurrence after first venous thromboembolism (VTE) among patients with or without Factor V Leiden (FVL) mutation.

MATERIALS AND METHODS

A prospective population based study of 1465 consecutive unselected VTE patients was performed at Skåne University Hospital 1998-2008. The VTE was objectively verified and the patients answered questionnaire and left blood samples for evaluation.

RESULTS

Out of 1465 patients (721[49%] men and 744[51%] women) thrombophilia data were available for 1267, and FVL mutation was found in heterozygous form in 339 (27). The homozygous form and prothrombin mutation (PTM) were much less common. Patients were followed during 4.8 ± 2.3 years (total 6133 patient years) and recurrence after first VTE (evaluated in 1108 patients) occurred in 131 (12%, 95%CI 10-14%), where of 49(37%) had heterozygous FVL mutation and 57(44%) were without thrombophilia. The remaining 25(19%) patients had either PTM, FVL in homozygous form, compound PTM/FVL or unknown thrombophilia status. Having FVL mutation in heterozygous form significantly increased the risk for VTE recurrence (odds ratio 2.4 (95 %CI 1.6-3.6; p<0.01). In a Kaplan-Meier analysis the FVL group also differed significantly (p<0.01) from the other patients concerning time to recurrence (almost 25% vs. 10% after 8 years).

CONCLUSIONS

FVL mutation in heterozygous form is common among VTE patients and significantly increases the risk for VTE recurrence.

摘要

简介

评估有或没有因子 V 莱顿（FVL）突变的首次静脉血栓栓塞（VTE）患者复发的风险。

材料和方法

在斯堪的纳维亚大学医院 1998-2008 年进行了一项前瞻性、基于人群的 1465 例连续非选择性 VTE 患者的研究。VTE 经客观验证，患者回答问卷并留下血液样本进行评估。

结果

在 1465 例患者（721 例[49%]男性和 744 例[51%]女性）中，有 1267 例有血栓形成数据，339 例（27%）存在杂合子形式的 FVL 突变。纯合子形式和凝血酶原突变（PTM）则少见得多。患者随访 4.8±2.3 年（共 6133 患者年），首次 VTE 后复发（在 1108 例患者中评估）发生在 131 例（12%，95%CI 10-14%），其中 49 例（37%）有杂合子 FVL 突变，57 例（44%）无血栓形成。其余 25 例（19%）患者要么有 PTM、FVL 纯合子、PTM/FVL 复合突变或未知的血栓形成状态。杂合子形式的 FVL 突变显著增加 VTE 复发的风险（比值比 2.4（95%CI 1.6-3.6；p<0.01）。在 Kaplan-Meier 分析中，FVL 组在复发时间方面也与其他患者有显著差异（p<0.01）（8 年后几乎 25% vs. 10%）。