Background-The factor V Leiden (FVL) mutation has been shown to be the most frequent cause of hereditary thrombophilia. The prevalence of the mutation in patients with Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT) has not been fully elucidated. Aims-To investigate the association between the FVL mutation and BCS and PVT. Patients-Thirty patients with BCS, 32 patients with PVT, and a control group of 54 patients with liver disorders and no history of thrombosis. Methods-The factor V gene was analysed for the presence of the FVL mutation by a polymerase chain reaction (PCR) technique. The presence of the mutation 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 patients had coexisting hypercoagulable states. The prevalence of the FVL mutation was significantly higher in patients with BCS compared with patients with PVT and controls (p<004). The FVL mutation was the second most common aetiology associated with BCS.
The clinical presentation, investigations, therapeutic modalities, prognosis and outcome of 44 patients with Budd-Chiari syndrome (BCS) were reviewed. There were 27 women and 17 men. Median age at presentation was 37 years (range 14-60). Possible aetiological factors were identified in 31 patients (70%). Myeloproliferative disorders were the commonest aetiology. Abdominal pain and swelling were the commonest presenting symptoms. Sixteen patients underwent a shunt operation (14 mesocaval, 2 mesoatrial). Ten patients had liver transplantation. Eleven patients had angioplasty/stent as their only treatment, and seven were treated medically or died before any treatment was instituted. Radiological intervention was comparable to mesocaval shunt in relieving patients' symptoms and in achieving good long-term results. Medical treatment and liver transplantation both yielded poor results. Radiological intervention in the form of balloon angioplasty or stent placement gives good results in a subgroup of BCS patients, and should be tried first to relieve the hepatic outflow obstruction. Mesocaval shunts provide good results in selected cases. Underlying haematological causes should be intensively investigated and promptly treated.
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