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Thrombophilic risk factors among 16 Lebanese patients with cerebral venous and sinus thrombosis

Zaher K Otrock1, Ali T Taher, Wael A Shamseddeen

  • 1Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Riad El Solh, P.O Box 11-0236, Beirut 1107 2020, Lebanon.

Journal of Thrombosis and Thrombolysis
|September 8, 2007
PubMed

Insights

Cerebral venous and sinus thrombosis (CVST) is linked to inherited clotting disorders. This study found a high rate of inherited thrombophilia, including factor V Leiden and MTHFR mutations, in Lebanese patients with CVST.

Area of Science:

  • Neurology
  • Hematology
  • Genetics

Background:

  • Cerebral venous and sinus thrombosis (CVST) is a complex neurological condition.
  • Understanding the underlying causes of CVST is crucial for effective management.
  • Thrombophilia, an increased tendency to form blood clots, is a known risk factor.

Purpose of the Study:

  • To evaluate the frequency of inherited and acquired thrombophilia in patients diagnosed with CVST.
  • To identify specific genetic mutations associated with CVST in a Lebanese cohort.
  • To explore the role of combined thrombophilic factors in the pathogenesis of CVST.

Main Methods:

  • Retrospective analysis of 16 patients diagnosed with CVST.
  • Screening for inherited thrombophilia, including factor V G1691A mutation and methylenetetrahydrofolate reductase (MTHFR) C677T genotype.
  • Assessment for acquired thrombophilia, such as antiphospholipid antibodies.
  • Review of patient history for risk factors including oral contraceptive use and malignancies.

Main Results:

  • A high prevalence of inherited thrombophilia was observed in the study group.
  • Factor V G1691A mutation was present in 31.2% of patients.
  • MTHFR C677T genotype was found in 50% of patients, with 2 homozygous.
  • Combined factor V Leiden and MTHFR mutations occurred in 25% of patients.
  • Antiphospholipid antibodies were detected in 3 patients.
  • Oral contraceptive use and malignancies were noted in a subset of patients.

Conclusions:

  • The study identified a significant rate of inherited coagulopathy among Lebanese patients with CVST.
  • Combined inherited thrombophilia appears to play a substantial role in 25% of these cases.
  • These findings suggest a multifactorial etiology for CVST in this population.
  • Further research with larger sample sizes is warranted to confirm these observations.

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