Thrombophilic risk factors in patients with cranial and spinal dural arteriovenous fistulae.
OBJECTIVE
Numerous studies have reported the technical aspects and results of surgical and/or endovascular treatment of cranial dural arteriovenous fistulae (cDAVF) and spinal dural arteriovenous fistulae (sDAVF). Only a few of them have addressed the question of thrombophilic conditions, which may be relevant as pathogenetic factors or can increase the risk for venous thromboembolic events. Therefore, the objective of this study is to compare thrombophilic risk factors in patients with cDAVF and sDAVF with no history of trauma.


METHODS
A total of 43 patients (25 with cDAVF and 18 with sDAVF) were included in this study. Blood samples were analyzed for G20210A mutation of the prothrombin gene and factor V Leiden mutation. In all patients, prothrombin time, international normalized ratio, fibrinogen, antithrombin, protein C and S activity, von Willebrand factor antigen, ristocetin cofactor activity, D-dimer, coagulation factor VIII activity, and tissue factor pathway inhibitor were determined. Screening was performed for the occurrence of lupus antiphospholipid and cardiolipin antibodies.


RESULTS
The prevalence of G20210A mutation of the prothrombin gene was significantly higher in patients with cDAVF (n = 6) compared with patients with sDAVF (n = 0; P < 0.05, Fisher's exact test). A factor V Leiden mutation was found in 3 patients with sDAVF and in 1 patient with cDAVF (P = 0.29, Fisher's exact test). No significant difference was found for other parameters, except for fibrinogen, but decreased protein C activity was more frequent in patients with cDAVF compared with patients with sDAVF (4 versus 1). Decreased protein S activity was encountered in 3 patients (2 with sDAVF and 1 with cDAVF). Cardiolipin antibodies were found in 2 patients with cDAVF but in none with sDAVF, whereas only 1 patient with sDAVF had lupus antiphospholipid antibodies.


CONCLUSIONS
In both groups of patients with dural arteriovenous fistulae, genetic thrombophilic abnormalities occurred in a higher percentage than in the general population. The differences of the genetic abnormalities may be involved in different pathophysiological mechanism(s) in the development of these distinct neurovascular entities.
Gerlach
Rüediger
R
Department of Neurosurgery, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany. r.gerlach@em.uni-frankfurt.de
Boehm-Weigert
Martina
M
Berkefeld
Joachim
J
Duis
Judith
J
Raabe
Andreas
A
Seifert
Volker
V
Marquardt
Gerhard
G
D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D020785:Central Nervous System Vascular Malformations / Q000453:epidemiology / Q000503:physiopathology*; D015897:Comorbidity; D004388:Dura Mater / Q000098:blood supply / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000453:epidemiology / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D012307:Risk Factors; D013131:Spine / Q000098:blood supply / Q000473:pathology*; D013927:Thrombosis / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
D015415:Biomarkers