[Genetic thrombophilia and cerebral venous thrombosis]

Med Clin (Barc). 2007 May 5;128(17):655-6. doi: 10.1157/13102055.
[Article in Spanish]

Abstract

Background and objective: Sinus cerebral venous thrombosis (SCVT) is an unfrequent disease, with variable clinical presentation and prognosis. The objective of this study was to analyze the relationship between factor V Leiden, prothrombin G20210A mutation (PT 20210A) and MTHR and SCVT.

Patients and method: Cases and control study including 15 patients with diagnosis of SCVT. We performed a genetic analysis of the mutation of factor V Leiden, the PT G20210A and the C677T of the MTHR.

Results: Factor V Leiden: 26.6% heterozygote in cases and only 8.3% in control group, thus showing odds ratio [OR] = 4,0. Mutation 20210A of the prothrombin: in patients, 13.3% of heterozygote, while a 6,6% in controls, finding an OR = 2.1 (95% confidence interval [CI], 1.67-10.04). Mutation of the MTHR: 40% heterozygote and 20% homozygote in patients group respect to 51.6% and 6,9%, respectively, in the control group, but no statistical differences were found.

Conclusions: The presence of factor V Leiden and PT 20210A are risk factors for SCVT, but not the mutation of the MTHR.

Publication types

  • English Abstract

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Factor V / genetics*
  • Female
  • Humans
  • Infant
  • Intracranial Thrombosis / complications
  • Intracranial Thrombosis / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Prothrombin / genetics*
  • Retrospective Studies
  • Thrombophilia / complications
  • Thrombophilia / genetics*

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin
  • Methylenetetrahydrofolate Reductase (NADPH2)