LaHue Sara C, Kim Helen, Pawlikowska Ludmila, Nelson Jeffrey, Cooke Daniel L, Hetts Steven W, Singh Vineeta
1Department of Neurology.
2Department of Neurology, Zuckerberg San Francisco General Hospital, San Francisco, California.
J Neurosurg. 2018 Apr 6;130(4):1346-1350. doi: 10.3171/2017.10.JNS171987. Print 2019 Apr 1.
The pathogenesis of dural arteriovenous fistulas (DAVFs) remains poorly defined. Prior studies on thrombophilia as a risk factor for DAVF development are limited by small sample sizes and poor generalizability.
In this longitudinal observational study, all patients with intracranial DAVFs evaluated at the University of California, San Francisco from December 1994 through April 2014 were identified. After obtaining patient consent, 3 thrombophilic mutations, factor V Leiden (rs6025), MTHFR (rs1801133), and prothrombin G20210A, were genotyped. The authors evaluated the association of thrombophilia status (presence of any thrombophilic mutation) and clinical and angiographic characteristics using either a 2-sample t-test or Fisher's exact test.
A total of 116 patients with diagnosed intracranial DAVFs were included in the study. Twenty-five (22%) patients met criteria for thrombophilia. Focal neurological deficits tended to occur more frequently in the thrombophilia group (78% vs 57%, p = 0.09). Angiographic characteristics of DAVFs, including high-risk venous flow pattern, multiplicity of DAVF, and the presence of venous sinus thrombosis, did not differ significantly between the 2 groups but tended to be more common in the thrombophilic than in the nonthrombophilic group.
This study is one of the largest of thrombophilia and DAVF to date. The frequency of mutations associated with thrombophilia in this study was higher than that in the general population.
硬脑膜动静脉瘘（DAVF）的发病机制仍未明确。先前关于血栓形成倾向作为DAVF发生风险因素的研究受样本量小和普遍适用性差的限制。
在这项纵向观察性研究中，确定了1994年12月至2014年4月在加利福尼亚大学旧金山分校接受评估的所有颅内DAVF患者。在获得患者同意后，对3种血栓形成倾向突变，即凝血因子V莱顿（rs6025）、亚甲基四氢叶酸还原酶（MTHFR，rs1801133）和凝血酶原G20210A进行基因分型。作者使用双样本t检验或费舍尔精确检验评估血栓形成倾向状态（存在任何血栓形成倾向突变）与临床和血管造影特征之间的关联。
共有116例确诊颅内DAVF患者纳入研究。25例（22%）患者符合血栓形成倾向标准。血栓形成倾向组局灶性神经功能缺损的发生率往往更高（78%对57%，p = 0.09）。DAVF的血管造影特征，包括高风险静脉血流模式、DAVF的多发性和静脉窦血栓形成的存在，在两组之间无显著差异，但在血栓形成倾向组比非血栓形成倾向组更常见。
本研究是迄今为止关于血栓形成倾向与DAVF的最大规模研究之一。本研究中与血栓形成倾向相关的突变频率高于一般人群。
