forward consensus primer and two reverse primers, one of which is specific for the wild type and the other for Procoagulant mutations and venous thrombosis in Behçet’s disease

forward consensus primer and two reverse primers, one of which is specific for the wild type and the other for Procoagulant mutations and venous thrombosis in Behçet’s disease the mutated alleles. The 340 bp PCR products were S, Behçet’s disease (BD) is a vasculitis of unknown visualized on ethidium bromide-stained agarose gels. A aetiology characterized by involvement of both arteries second amplification was performed to confirm the and veins and vessels of all sizes [1]. Thrombosis of presence of the mutation. superficial and deep veins is more frequent than arterial We compared the frequencies of the prothrombin aneurysms and thrombotic occlusions. Deep vein thromand/or factor V gene mutations in the T+ and T− bosis of the lower extremities is seen in about one-fifth groups by x2 test, and calculated the odds ratio (OR) of Turkish patients with BD [2]. Thrombotic occlusions for estimation of thrombosis risk in the presence of of inferior and superior venae cavae, hepatic veins procoagulant mutations. and cerebral sinuses can also be observed, albeit less Heterozygous prothrombin gene G20210A mutation frequently. was found in 10 (nine male, one female) of the T+ We previously reported that coagulation factor V gene (31.3%) and in one (male) of the T− group (3.1%) G1691A mutation (factor V Leiden), the most common (P= 0.003, OR= 14.1, 95% CI 1.7–118.2; Table 1). inherited coagulation defect associated with venous One of these 10 patients had sagittal sinus thrombosis, thrombosis, could be detected in 37.5% of BD patients one had sagittal sinus+ inferior vena cava and one with a history of deep vein thrombosis in a case–control superior vena cava thrombosis in addition to thrombosis study [3]. The association of factor V Leiden with of the lower extremities. The prothrombin gene mutation venous thrombosis in BD was later confirmed in different was found in two male patients, one with ethnic groups [4, 5]. femoral+popliteal artery thrombosis and the other Herein, we present our results of screening the same with brachial artery aneurysm+ thrombosis. study group for the presence of a new mutation identified Four patients (three male, one female) in the T+ in the 3∞-untranslated region of the prothrombin gene group were carrying both factor V Leiden and prothrom(20210 GA). This mutation is associated with elevated bin gene G20210A mutations, and one of them was the plasma prothrombin levels and a 3-fold increased risk patient with femoral+popliteal artery thrombosis. of venous thrombosis [6 ], and it has been reported as A total of 18 patients (56.3%) with BD and deep vein the second most common inherited hypercoagulable thrombosis were carrying factor V Leiden and/or the state [7]. The prevalence of heterozygous 20210A carprothrombin gene G20210A mutation compared with riers varied from 1 to 5% in healthy Caucasians and only four of the BD patients without any thrombotic was found to be 2.2–2.7% in healthy Turkish controls event (P= 0.0002, OR= 9, 95% CI 2.6–31.7). [7–9]. The detection of the two most frequent hereditary The study group consisted of 64 patients, 32 with a prothrombotic mutations known in more than half of history of deep vein thrombosis (T+ ) of the lower BD patients with deep vein thrombosis supports the extremities, and 32 ageand sex-matched patients withimportant role of procoagulant mutations in the develout any thrombotic events (T− ) during a minimum of opment of venous thrombosis in BD. We previously 8 yr disease duration. All patients fulfilled three or more suggested that the tendency to thrombosis in BD could International Study Group (ISG) criteria for BD [2]. be explained by endothelial activation induced by In the T+ group, three patients also had inferior vena immune-mediated vasculitis. Endothelial changes may cava, two had superior vena cava and three had sagittal trigger venous (and arterial ) thrombosis in patients sinus thromboses. Arterial involvement in pulmonary, carrying factor V Leiden, the prothrombin G20210A brachial, iliac and femoral arteries was present in four mutation, or other yet unidentified mutations of the patients. Clinical details of the patients were given coagulation system, if the inflammatory response is previously [3]. strong enough. Cerebral vein and arterial thrombosis The G20210A mutation in the 3∞ untranslated region has been reported in individuals heterozygous for the of the prothrombin gene was detected by allele-specific prothrombin gene mutation [11, 12]. We identified two polymerase chain reaction (PCR) as described previously [10]. Briefly, it was demonstrated by using a patients with sagittal sinus thrombosis, one of whom