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Hyperhomocysteinemia and other thrombophilic risk factors in 26 patients with cerebral venous thrombosis

G Boncoraglio1, M R Carriero, L Chiapparini

  • 1Department of Neurology, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.

Insights

High homocysteine levels (hyper-Hcy) are linked to an increased risk of cerebral venous thrombosis (CVT). This study found hyper-Hcy in 38.5% of CVT patients, suggesting it

Area of Science:

  • Neurology
  • Hematology
  • Genetics

Background:

  • Cerebral venous thrombosis (CVT) remains idiopathic in approximately 30% of cases.
  • Hyperhomocysteinemia (hyper-Hcy) is a known risk factor for venous and arterial thrombosis but its association with CVT is unclear.
  • Thrombophilic risk factors require further investigation in CVT etiology.

Purpose of the Study:

  • To assess the prevalence of hyperhomocysteinemia (hyper-Hcy) in patients with non-pyogenic cerebral venous thrombosis (CVT).
  • To compare the prevalence of hyper-Hcy and specific thrombophilic mutations in CVT patients versus healthy controls and cerebroarterial disease patients.
  • To investigate the association between hyper-Hcy and the risk of CVT.

Main Methods:

  • Retrospective review of a prospectively maintained database of 26 consecutive patients with non-pyogenic CVT.
  • Analysis of hyperhomocysteinemia (hyper-Hcy) and mutations in prothrombin G20210A, factor V G1691A, and methylenetetrahydrofolate reductase (MTHFR) C677T.
  • Comparison of prevalence rates with 100 healthy controls and 100 patients with cerebroarterial disease.

Main Results:

  • Hyperhomocysteinemia (hyper-Hcy) was present in 38.5% (10/26) of CVT patients.
  • The prevalence of hyper-Hcy was significantly higher in CVT patients compared to healthy controls (OR 4.18).
  • No significant differences were observed in the prevalence of prothrombin or MTHFR mutations; factor V mutation was absent.

Conclusions:

  • Hyperhomocysteinemia (hyper-Hcy) is associated with an increased risk of cerebral venous thrombosis (CVT).
  • Further large-scale prospective studies are needed to establish the temporal relationship between hyper-Hcy and CVT.
  • Hyperhomocysteinemia represents a potential modifiable risk factor for CVT.

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