[Genetic thrombophilia and cerebral venous thrombosis].
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.


METHODS
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.
Romero
Alberto
A
Unidad de Trombosis y Hemostasia, Servicio de Hematología y Hemoterapia, Hospital General Universitario de Alicante, Alicante, España. alberto0976@hotmail.com
Marco
Pascual
P
Verdú
José
J
Sánchez
Sara
S
Castaño
Vanesa
V
D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D020767:Intracranial Thrombosis / Q000150:complications / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011516:Prothrombin / Q000235:genetics*; D012189:Retrospective Studies; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)