PREVALENCE OF THE FACTOR-V-LEIDEN MUTATION IN HEPATIC AND PORTAL-VEINTHROMBOSIS

Background-The factor V Leiden (FVL) mutation has been shown to be the most frequent cause of hereditary thrombophilia. The prevalence of th e mutation in patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) has not been fully elucidated. Aims-To investigate t he association between the FVL mutation and BCS and PVT. Patients-Thir ty patients with BCS, 32 patients with PVT, and a control group of 54 patients with liver disorders and no history of thrombosis. Methods-Th e factor V gene was analysed for the presence of the FVL mutation by a polymerase chain reaction (PCR) technique. The presence of the mutati on was confirmed by DNA sequencing. Results-Seven (23%) patients with BCS, one (3%) patient with PVT, and three (6%) patients in the control group were identified as having the FVL mutation. Three of the BCS pa tients had coexisting hypercoagulable states. The prevalence of the FV L mutation was significantly higher in patients with BCS compared with patients with PVT and controls (p < 0.04). The FVL mutation was the s econd most common aetiology associated with BCS. Conclusion-The FVL mu tation is an important factor in the pathogenesis of BCS and screening for the disorder must be included in the investigation of patients pr esenting with this condition. In contrast, the FVL mutation is not a m ajor predisposing factor in the pathogenesis of PVT.