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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.
Abstract:
Despite the continuous description of new conditions pre-disposing for cerebral venous thrombosis (CVT), no apparent cause is found in about 30% of cases. Hyperhomocysteinemia (hyper-Hcy) is an established risk factor for deep venous thrombosis and stroke but has not been clearly associated with increased risk of CVT. We assessed the prevalence of hyper-Hcy and other thrombophilic risk factors in a population of 26 consecutive patients with non-pyogenic CVT, by review of a prospectively maintained database. The prevalences of hyper-Hcy and prothrombin G20210A, factor V G1691A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations in these patients were compared with those in 100 healthy controls and 100 patients with cerebroarterial disease. The prevalence of hyper-Hcy was greater in patients with CVT (10/26, 38.5%) than healthy controls (13/100; OR 4.18, 95% CI 1.58-11.16) and comparable with that in patients with cerebroarterial disease (42/100). No significant differences were found in the prevalences of prothrombin or MTHFR mutation. No factor V mutation was found. Our findings indicate that hyper-Hcy is associated with an increased risk of CVT. Additional prospective cohort studies on large series of patients are required to clarify the time relationship between hyper-Hcy and the thrombotic event.
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