Thrombophilia due to factor V and factor II mutations and formation of a dural arteriovenous fistula: Case report and review of a rare entity

Sam Safavi-Abbasi, Federico Di Rocco, Peter Nakaji, Guenther C. Feigl, Alireza Gharabaghi, Madjid Samii, Anton Valavanis, Amir Samii

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Genetic mutations underlying thrombophilia are often recognized in patients with thromboembolic episodes. However, the clinical and therapeutic implications of such findings often remain unclear. We report the first case of a dural arteriovenous fistula (DAVF) in a patient with a combined factor II and factor V Leiden mutation. A 40-year-old man presented with a large left temporal and intraventricular hemorrhage. An initial angiogram showed thrombosis of the left sigmoid sinus but no evidence of a vascular malformation. One year after the hemorrhage, an angiographic study showed the appearance of a right DAVF. During the follow-up period, the patient was found to harbor heterozygosity for a mutation of factor V and a mutation of factor II. Recognition of the patient's thrombophilia led to prolonged oral anticoagulation therapy to reduce the risk of a recurrent thrombotic episode. Despite the increased risk of bleeding, the therapy was considered justified. DAVFs may occur after sinus thrombosis in patients with combined factor II and factor V mutations. This observation indicates the association of multiple hematological disorders with DAVFs in individual patients. Moreover, it raises the clinical conundrum of how to manage patients with thrombophilia, intracranial hemorrhage, and DAVFs.

Original languageEnglish (US)
Pages (from-to)135-144
Number of pages10
JournalSkull Base
Volume18
Issue number2
DOIs
StatePublished - Mar 2008

Keywords

  • Anticoagulation
  • Arteriovenous malformation
  • Factor V leiden mutation
  • G20210A mutation
  • Hypercoagulable state

ASJC Scopus subject areas

  • Clinical Neurology

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