The inherited deficiencies of protein C, protein S, antithrombin III, factor V Leiden mutation, prothrombin gene polymorphism, and antiphospholipids were studied in 53 Budd-Chiari syndrome (BCS) and 33 portal vein thrombosis (PVT) cases and compared with 223 age-and sex-matched controls. Protein C deficiency was detected in 7 (13.2%), protein S in 3 (5.7%), and antithrombin III in 2 (3.8%) of the BCS cases. Factor V Leiden was the most common risk factor, i.e., 14 of 53 (26.4%) in BCS cases followed by protein C, as compared with PVT cases, i.e., 2 of 33 (6.06%) and controls, i.e., 5 of 223 (2.3%). In PVT cases, protein C deficiency was present in 3 (9.09%), protein S deficiency in 1 (3.03%), and factor V Leiden mutation in 2 (6.06%) of the cases. The prothrombin gene polymorphism was not found in either the controls or the patients. The antiphospholipids were seen in 11 (20.75%) of the BCS cases and 6 (18.18%) of the PVT cases. Other acquired risk factors like pregnancy, surgery, and oral contraceptives were present in 8 (15.09%) of BCS and 3 (9.09%) of PVT cases. Thus overall, 59% of the BCS and 30% of the PVT cases could be explained by at least one of the etiologic factors studied. (HEPATOLOGY 2001;34: 666-670.)Budd-Chiari syndrome (BCS) is a rare disorder, the cause of which remains undetermined in the majority of cases. It is caused by the occlusion of hepatic outflow either at the level of hepatic veins or inferior vena cava. The disease, however, has been associated with a variety of conditions like malignancy, 1,2 polycythemia rubra vera, 3 paroxysmal nocturnal hemoglobinuria, 4 trauma, 5 pregnancy, 6 oral contraceptives, 7 and infection. 8 The clinical manifestations include hepatomegaly, portal hypertension, and liver function failure. Portal vein thrombosis (PVT) manifests itself as portal hypertension with decreased portal flow. Hypercoagulability has been implicated in both BCS and PVT.Except for a single report 9 published recently, there have not been many reports on the prevalence of the common factors for hypercoaguability, i.e., protein C, protein S, antithrombin III, factor V Leiden, and prothrombin gene polymorphism, studied in a large group of patients. There have only been isolated case reports in the literature describing BCS cases and the association of single prothrombotic factors 10-13 ; however, a systematic prospective study investigating all the prothrombotic factors simultaneously in BCS and PVT cases is lacking.
MATERIALS AND METHODSPatients. The patients were referred from the Department of Gastroenterology, KEM Hospital, Mumbai, India, between 1995 and 2000. The diagnostic criteria for BCS was partial or complete obstruction of hepatic outflow or inferior vena cava, and for PVT, partial or complete obstruction of portal vein. The confirmation was done by Doppler sonography, magnetic resonance imaging, computed tomography scanning, and venography. The clinical details were recorded in a well-defined clinical proforma, which included details like number of thrombotic events, famil...