Factor V Leiden, factor V Cambridge, factor II GA20210, and methylenetetrahydrofolate reductase in cerebral venous and sinus thrombosis: A case-control study

Abstract

Background:Factor V G1691A (FV Leiden), FII GA20210, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations are the most common genetic risk factors for thromboembolism in the Western countries. However, there is rare data in Iran about cerebral venous and sinus thrombosis (CVST) patients. The aim of this study was to evaluate the frequency of common genetic thrombophilic factors in CVST patients.Materials and Methods:Forty consequently CVST patients from two University Hospital in Isfahan University of Medical Sciences aged more than 15 years from January 2009 to January 2011 were recruited. In parallel, 51 healthy subjects with the same age and race from similar population selected as controls. FV Leiden, FII GA20210, MTHFR C677T, and FV Cambridge gene mutations by polymerase chain reaction technique were evaluated in case and control groups.Results:FV Leiden, FII GA20210, and FV Cambridge gene mutations had very low prevalence in both case (5%, 2%, 0%) and control (2.5%, 0%, 0%) and were not found any significant difference between groups. MTHFR C677T mutations was in 22 (55%) of patients in case group and 18 (35.5%) of control group (P = 0.09).Conclusion:This study showed that the prevalence of FV Leiden, FII GA20210, and FV Cambridge were low. Laboratory investigations of these mutations as a routine test for all patients with CVST may not be cost benefit.

Seizure in cerebral venous and sinus thrombosis

“…The incidence rate of ASS has a widely varied range in different studies. ASS in CVST are reported in 6.9–76% of patients, with the higher incidence in severe CVST cases (60%) and peripartum CVST (76%) . The risk of PCE is low compared with the high rate of ASS, and is reported in about 4–16% of patients in different studies that followed patients between 12 months to a mean of 77.8 months .…”

Role of Genetic Thrombophilia Markers in Thrombosis Events in Elderly Patients with COVID-19

“…Furthermore, there are many published works proving that people carrying G1691A mutations in the proaccelerin gene ( FV , Leiden mutation), G20210A in the prothrombin FII gene, (-675) 4G/5G in the plasminogen activator inhibitor ( PAI-I ) gene, C677T, A1298C in the methylenetetrahydrofolate reductase gene ( MTHFR ), etc., have a higher risk of thrombosis [ 11 , 12 , 13 ]. It would be logical to assume that patients with COVID-19 having genetic predisposition factors for thrombophilia are more likely to have thrombosis than those who do not have such mutations.…”

Plasminogen Activator Inhibitor-1 (PAI-1) Gene Polymorphisms Associated with Cardiovascular Risk Factors Involved in Cerebral Venous Sinus Thrombosis

“…PAI-1 synthesis is regulated by the gene on chromosome 7 in whose promoter region at position—675 bp mutation is described which results in heterozygous variant of 4G/5G but 4G only transcriptionally active allelic variants responsible for increases risk of thrombosis [ 6 ]. In the most cases the contribution of PAI-14G/5G polymorphism of the synergetic conditioned by the presence of the conventional risk factors for the occurrence of arterial and venous thrombosis, such as hypertension, diabetic disease, and chronic inflammatory diseases which can have a significant impact on the level of PAI-1 in plasma [ 7 , 8 ]. An association has also been observed between the 4G allele and cholesterol (TC) and low-density lipoprotein (LDL) plasma levels in patients with coronary artery disease [ 9 ].…”