Thrombophilia and Cerebral Vein Thrombosis

Abstract

Cerebral venous thrombosis (CVT) is a multifactorial disease. The idiopathic form represents 12.5% of all CVTs and is diagnosed by excluding known risk factors. As for any form of venous thromboembolism, thrombophilia should be suspected in patients with recurrent CVT or less than 45 years of age or positive family history for venous thrombosis or no evident acquired risk factor. A significant number of CVT patients with thrombophilia also presents other predisposing factors. This suggests that both (1) thrombophilia should be sought for in patients with CVT whether a cause is found or not, and (2) the presence of thrombophilia should not deter the search for other potential causes. Laboratory investigation for markers of thrombophilia in patients with CVT may include the identification of various congenital defects (or deficiencies) of natural anticoagulant pathways (factor V Leiden being the most frequent), as well as of acquired markers (such as antiphospholipid antibodies). A diagnostic test should only be performed if its result will affect the subsequent management of the patient (e.g., the duration of treatment aimed at preventing further thrombotic episodes) or of his family members. The aim of this chapter is to review the available evidence regarding the role played by known thrombophilic factors in CVT and to offer practical suggestions for undertaking laboratory investigations in the most appropriate manner. Odds ratios for CVT were found to be 3.38 for factor V Leiden mutation, 9.27 for Prothrombin G20210A mutation, 32 for antiphospholipid syndrome and 4.07 for hyperhomocysteinemia. Some simple but critical rules are finally given to help when testing for thrombophilia.

Thrombocytopenia and Intracranial Venous Sinus Thrombosis after “COVID-19 Vaccine AstraZeneca” Exposure

“…Predisposing variants of thrombophilia include antithrombin, protein C and protein S deficiency, prothrombin polymorphism, factor V Leiden mutation, antiphospholipid antibodies, hyperhomocysteinemia, pregnancy, puerperium, surgery, cancer, immobilization, oral contraceptives, and inflammatory bowel disease. Any combination of such factors may increase the risk of IVST [8,9].…”

Cerebral Venous Sinus Thrombosis Risk Factors

“…Antiphospholipid antibody (aPL) and anticardiolipin antibody (aCL) result in an increased tendency to arterial or venous thrombosis (119) as CVST (42, 120). aCL antibodies have been reported in 5–22·6% of CVST patients (4,27, 121).…”

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

“…[ 4 ] Various risk factors can be identified in 70-80% of patients, such as local infections (middle ear or facial skin infections), thrombophilic states (factor V [FV] Leiden [G1691A] gene mutation; methylenetetrahydrofolate reductase [MTHFR] C677T; deficit of antithrombin III, protein C, and protein S; FII GA20210 mutation; hyperhomocysteinemia with or without elevated factor VIII levels; and antiphospholipid syndrome), systemic inflammatory diseases (for example Behcet's disease), medication treatment (contraception), pregnancy, and the puerperium,[ 5 6 7 ] and in about 20% no risk factor is identified. [ 2 ] FV G1691A (Leiden), FII GA20210, and MTHFR C677T mutations are the most common genetic risk factors for thromboembolism in Western countries[ 8 9 ] however, there is rare data about the association of these mutation and CVST in Iran. Therefore, the aim of this study is to evaluate the frequency of common genetic thrombophilic factors in CVST and to offer practical suggestion for doing laboratory investigations in CVST patients.…”