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An Unusual Cause of Cerebral Venous Sinus Thrombosis: Prothrombin G20210A Gene Mutation

Mateo Porres-Aguilar, MD, Jaime H. Square, MD, Raul Storey, MD, Simon Rodriguez-Dunn, MD, Mohamed S. Mohamed-Aly, MD
Volume: 100 Issue: 9 September, 2007

Abstract:

Cerebral venous sinus thrombosis represents less than 1% of all strokes, being an uncommon entity with a wide spectrum of clinical scenarios. We present a 45-year-old Hispanic female with a history of long-term oral contraceptive use who was diagnosed with cerebral venous sinus thrombosis due to a heterozygous carrier mutation in the prothrombin G20210A gene. The patient was successfully managed with intravenous heparin with favorable clinical results without adverse effects. The prevalence of inherited primary thrombophilia increases with additional risk factors such as the use of oral contraceptives that can trigger or prothrombotic events in any vascular bed. An increased prevalence in the prothrombin G20210 gene mutation has been demonstrated in the Mexican-Mestizo population. Controversy exists regarding therapy of cerebral venous sinus thrombosis; according to experts, heparin remains the cornerstone of therapy with acceptable outcomes. More clinical trials are required to evaluate long-term outcomes in this subgroup of patients.


Key points


* Cerebral venous sinus thrombosis (CVST) represents less than 1% of all strokes.


* This uncommon entity can present with a wide spectrum of clinical manifestations that can mimic any intracranial process.


* Prevalence studies indicate that the most common cause of inherited thrombophilia in Mexican-Mestizo population causing CVST represents the prothrombin G20210A gene mutation.


* Intravenous heparin represents the cornerstone of therapy.

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References:

1. Bousser MG. Cerebral venous thrombosis: diagnosis and management. J Neurol 2000;247:252–258.
 
2. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3′untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698–3703.
 
3. Ruiz Arguellez GJ, Garces Eisele J, Reyes Nunez V, et al. Primary thrombophilia in Mexico II. Factor V G1691A (Leiden), prothrombin G20210A and methilenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos. Am J Hematol 2001;66:28–31.
 
4. Vandenbroucke JP, Rosing J, Bloemenkamp KWM, et al. Oral contraceptives and the risk of venous thrombosis. N Engl J Med 2001;344:1527–1535.
 
5. Martinelli I, Sacchi E, Landi G, et al. High risk of cerebralvein thrombosis in carriers of a prothrombingene mutation and in users of oral contraceptives. N Engl J Med 1998;338:1793–1797.
 
6. Margaglione M, Brancaccio V, Giuliani N, et al. Increased risk for venous thrombosis in carriers of the prothrombin G–>A20210 gene variant. Ann Intern Med 1998;129:89–93.
 
7. Stam J. Thrombosis of the cerebral veins and sinuses. N Engl J Med 2005;352:1791–1798.
 
8. Ferro JM, Canhao P, Stam J, et al. Prognosis of cerebral vein and dural sinus thrombosis: results of the International Study on Cerebral Vein and Dural Sinus Thrombosis (ISCVT). Stroke 2004;35:664–670.
 
9. De Stefano V, Martinelli I, Mannucci PM, et al. The risk of recurrent venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med1999;341:801–806.

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