Combined heterozygosity of factor V leiden and the G20210A prothrombin gene mutation in a patient with cerebral cortical vein thrombosis

Am J Hematol. 2000 Jul;64(3):226-8. doi: 10.1002/1096-8652(200007)64:3<226::aid-ajh17>3.0.co;2-f.

Abstract

Cerebral venous thrombosis (CVT) is a rare type of stroke with a variety of causes. Several reports have suggested that either factor V Leiden or G20210A prothrombin gene mutation is associated with an increased risk of CVT. The genetic thrombophilias are typically associated with other predisposing factors. We report a unique case of CVT in a patient with both the factor V Leiden and the G20210A prothrombin gene mutations without other identifiable precipitating factors in a 28-year-old white male in good health. MRI and cerebral arterial angiography showed cerebral cortical venous thrombosis. This case suggests that combined heterozygous individuals may be particularly prone to spontaneous thrombosis, like CVT.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cerebral Cortex / blood supply*
  • Factor V / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Point Mutation
  • Prothrombin / genetics*
  • Venous Thrombosis / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin