Molecular analysis of thrombophilic risk factors in patients with dural arteriovenous fistulas

Abstract

Dural arteriovenous fistulas (DAVFs) are direct artery-to-cerebral venous sinus shunts. Our recent finding of a significantly increased prevalence of factor V (FV) Leiden in patients with DAVFs prompted us to evaluate prothrombinG20210A, MTHFRC677T, beta-fibrinogenG455A, PAI-14G/5G and FXIIIVal34Leu as additional risk factors for thrombophilia in 26 patients with DAVFs and a group of age- and gender-matched controls. There was no significantly increased prevalence of these risk factors in DAVF patients. We conclude that FV Leiden is of pathogenetic significance in the aetiology of a subgroup of DAVFs whereas the other thrombophilic risk factors are not likely to be involved.

Thrombophilic Risk Factors in Patients With Cranial and Spinal Dural Arteriovenous Fistulae

“…In contrast, a factor V Leiden mutation was found in only 1 patient (4.0%) with cDAVF, which is within the range of the reported incidence of 5% in the Caucasian population (9). Therefore, our data are in contrast to the studies of Kraus et al (23,25), who found an increased prevalence of the factor V Leiden mutation in patients with cDAVF compared with ageand sex-matched controls, whereas the G20210A mutation of the prothrombin gene was not increased (24). This discrepancy is difficult to explain, and it is unlikely that the ethnic background differs between the 2 study populations.…”

“…Although a few authors consider hypercoagulopathy in the pathogenesis of cDAVF (13,19,20,(23)(24)(25)44), findings in their studies are not uniform. In this study, 35% of patients with cDAVF and sDAVF had thrombophilic risk factors.…”

“…Including all patients from the relevant series (13,(23)(24)(25), they performed a meta-analysis, and factor V Leiden mutation was found in 9 of 121 patients (7.4%) compared with 3 of 178 controls (1.5%). A heterozygous G20210A mutation was found in 7 of 121 patients (5.8%) but only 1 of 121 controls (0.56%) (44).…”

Hypothetical Mechanism of the Formation of Dural Arteriovenous Fistula – The Role and Course of Thrombosis of Emissary Vein and Sinuses

“…Its drainage route gradually occludes from the inferior petrosal sinus and superior ophthalmic vein 11 , and occasionally causes a paradoxical worsening of visual acuity and chemosis with ocular hypertension following occlusion of the anterior drainage route. During this progression, the thrombophilic abnormalities characteristic of DAVF are also reported [18][19][20][21][22] .…”

Intracranial Dural Arteriovenous Fistulae

“…1,4,[10][11][12]15 The causal role of venous thrombosis is supported by the association of DAVF with hypercoagulable states, such as hyperhomocysteinemia, factor V Leiden, and antithrombin, protein C and S deficiencies. 2,[15][16][17][18][19][20] However, it is important to note that dural sinus thrombosis or occlusion can also be a sequelae of DAVF, likely resulting from associated venous hypertension. Finally, although many cases of DAVF are sporadic with no identifiable cause, some patients will report a history of intracranial surgery, infection, radiation exposure, pregnancy, or trauma.…”