Behçet's disease (BD) is a chronic inflammatory disorder in which
thrombosis occurs in about 30% of patients. The prothrombotic mechanisms are unknown. Thrombophilic defects and hyperhomocysteinaemia may be involved in the pathogenesis of thrombotic events, although results have been controversial. Moreover, no information is available on this issue for eastern Spain. We studied the prevalence of inherited and acquired thrombophilic risk factors in 79 patients with BD (43 men, 36 women) who had (n = 23) or did not have (n = 56)
thrombosis, and in 84 healthy control subjects (42 men, 42 women). Risk factors examined were
antithrombin,
protein C and
protein S levels,
factor V Leiden, the
prothrombin G20210A mutation, the
methylenetetrahydrofolate reductase C677T polymorphism, and acquired thrombophilic risk factors, including
anticardiolipin antibodies,
lupus anticoagulant, and serum
homocysteine levels. There were no differences between patients and controls in any of the parameters studied. When we studied BD patients with and without thrombotic events, the only thrombophilic defect that differed was the
prothrombin G20210A mutation: Three out of 23 patients with
thrombosis were carriers, compared with none of 56 patients without
thrombosis (p = 0.022). Two of the three carriers developed catastrophic or recurrent thrombotic episodes; one was a homozygous carrier of the G20210A
prothrombin mutation and the other was doubly heterozygous for the G20210A
prothrombin mutation and
factor V Leiden. A meta-analysis demonstrated an association of
factor V Leiden and
prothrombin mutation with
thrombosis in BD. When studies from Turkey were excluded from the meta-analysis, only the
prothrombin G20210A mutation was associated with
thrombosis.