Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula

Abstract

<jats:sec><jats:title>OBJECTIVE</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSIONS</jats:title><jats:p>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.</jats:p></jats:sec>

Acute traumatic dural arteriovenous fistula of the superior sagittal sinus: illustrative case

“…[1][2][3][4][5][6][7][8][9] They classically occur adjacent to venous sinuses, with the transverse sigmoid sinus, cavernous sinus, and superior sagittal sinus (SSS) being the most common locations. They comprise 10% to 15% of cerebral arteriovenous malformations 2,[10][11][12] and are distinguished by their meningeal supply and the absence of a vascular nidus.…”

“…Depending on the angioarchitecture of the dAVF, this direct shunt can predispose patients to intracerebral hemorrhage (ICH). [11][12][13] Classification systems such as those described by Cognard et al 14 and Borden et al 15 have sought to quantify this risk. dAVFs with antegrade venous outflow are low risk for ICH.…”

“… 18 dAVFs in association with traumatic brain injuries, infection, and after surgery have also been described. 2 , 7 , 11 , 19 , 20 These are typically attributed to a pathological alteration in angiogenesis.…”

Severe papilledema and multiple hypercoagulability abnormalities in patient with dural arterio-venous fistulas

“…8,9,11 However, other studies have described the prevalence of bdAVFs with other heritable thrombophilias such as protein C/S deficiency and hyperhomocysteinemia, though rates tend to vary from 25-45% across these studies due to small sample sizes. 12,13 To our knowledge, there are no studies investigating the prevalence of acquired hypercoagulable risk factors in patients with bdAVFs and this remains an area for further research. Presence of hypercoagulable state associated with bdAVFs can significantly impact the clinical care as these patients can develop deep vein thromboses, pulmonary embolism, dural sinus thrombosis, and cancer.…”

Gradual dilatation of an occluded transverse sinus associated with dural arteriovenous fistula after balloon angioplasty with sinus packing: A case report

“…DAVF is an acquired disease associated with sinus occlusion or stenosis due to trauma, craniotomy, infection, tumor, sinus thrombosis or thrombophilia. 1,9,10 Venous hypertension can induce a new DAVF by the establishment of a fistula between the meningeal artery and sinus. 11 Furthermore, a higher blood flow caused by DAVF can promote the occlusion and stenosis of the outflow vein.…”