Eppenberger Daria, Nilius Henning, Anagnostelis Betsy, Huber Carola A, Nagler Michael
Department of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Medical Library Research Support Service, University Library of Bern, University of Bern, Bern, Switzerland.
Front Cardiovasc Med. 2022 Apr 7;9:883986. doi: 10.3389/fcvm.2022.883986. eCollection 2022.
Thrombophilia screening is widely done in clinical practice, and it is claimed that the extent of venous thromboembolism (VTE) recurrence risk in patients with common defects is still not fully understood.
We aimed to summarize data of all observational studies prospectively assessing the association of heterozygous factor V Leiden (FVL) mutation and recurrent VTE in patients with VTE, and to calculate pooled relative risks (RR), overall and in various subgroups.
We searched MEDLINE and EMBASE databases for cohort studies prospectively assessing VTE recurrence in patients with and without FVL mutation (PROSPERO: CRD42021182800). Data were extracted on cohort and study-level. The methodological quality was assessed using the Newcastle-Ottawa Scale (NOS). RR were calculated overall and in subgroups using a random-effects model.
From 31 cohorts, 24 studies were finally included summarizing 13,571 patients. Heterozygous FVL mutation was identified in 2,840 individuals (21%). The methodological quality was estimated to be high in 20 studies (83%). The overall RR was 1.46 (95% CI: 1.31, 1.64), consistent across subgroups.
Pooling all high-quality epidemiological data, the risk of recurrent VTE was increased by 46% in patients with heterozygous FVL mutation. Against the background of established risk factors, the FVL mutation plays only a marginal role in the risk assessment for recurrent VTE.
血栓形成倾向筛查在临床实践中广泛开展，且据称常见缺陷患者静脉血栓栓塞（VTE）复发风险的程度仍未完全明确。
我们旨在总结所有前瞻性评估VTE患者中杂合子因子V莱顿（FVL）突变与VTE复发之间关联的观察性研究数据，并计算总体及各亚组的合并相对风险（RR）。
我们在MEDLINE和EMBASE数据库中检索前瞻性评估有或无FVL突变患者VTE复发情况的队列研究（PROSPERO：CRD42021182800）。在队列和研究层面提取数据。使用纽卡斯尔-渥太华量表（NOS）评估方法学质量。使用随机效应模型计算总体及亚组的RR。
从31个队列中，最终纳入24项研究，共13571例患者。2840例个体（21%）中发现杂合子FVL突变。20项研究（83%）的方法学质量估计为高。总体RR为1.46（95%CI：1.31，1.64），各亚组一致。
汇总所有高质量的流行病学数据，杂合子FVL突变患者VTE复发风险增加46%。在既定风险因素的背景下，FVL突变在复发性VTE风险评估中仅起边缘作用。
