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.
MeSH terms
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Aged
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Case-Control Studies
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Central Nervous System Vascular Malformations / blood*
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Central Nervous System Vascular Malformations / genetics*
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Central Nervous System Vascular Malformations / physiopathology
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Cranial Sinuses / pathology
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Cranial Sinuses / physiopathology*
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Factor V / genetics
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Factor V / metabolism
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Factor XIII / genetics
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Factor XIII / metabolism
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Female
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Fibrinogen / genetics
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Fibrinogen / metabolism
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Gene Frequency
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Genetic Predisposition to Disease / genetics
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Humans
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Male
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Methylenetetrahydrofolate Reductase (NADPH2)
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Middle Aged
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Mutation / genetics
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Oxidoreductases Acting on CH-NH Group Donors / genetics
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Oxidoreductases Acting on CH-NH Group Donors / metabolism
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Plasminogen Activator Inhibitor 1 / genetics
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Plasminogen Activator Inhibitor 1 / metabolism
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Polymorphism, Genetic / genetics
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Protein C / genetics
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Protein C / metabolism
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Prothrombin / genetics
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Prothrombin / metabolism
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Risk Factors
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Thrombophilia / blood
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Thrombophilia / complications*
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Thrombophilia / genetics*
Substances
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Plasminogen Activator Inhibitor 1
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Protein C
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factor V Leiden
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Factor V
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Prothrombin
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Fibrinogen
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Factor XIII
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Oxidoreductases Acting on CH-NH Group Donors
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Methylenetetrahydrofolate Reductase (NADPH2)