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  • Title: Budd-Chiari syndrome in a patient with factor V Leiden--successful treatment by TIPSS placement followed by liver transplantation.
    Author: Avenhaus W, Ullerich H, Menzel J, Foerster EC, Hengst K, Domschke W.
    Journal: Z Gastroenterol; 1999 Apr; 37(4):277-81. PubMed ID: 10378363.
    Abstract:
    The causes of Budd-Chiari syndrome (BCS) comprise several diseases leading to thrombophilia. One of the most common thrombophilic disorders is resistance against activated protein C, caused by a single point mutation of the factor V gene. In December 1993, a 22-year-old patient was given a diagnosis of subacute BCS with occlusion of all major hepatic veins. Placement of a transjugular intrahepatic portosystemic stent shunt led to rapid disappearance of ascites and hepatic encephalopathy. During the following two years, recurrent partial occlusions of the shunt were treated by balloon angioplasty. The cause of the BCS still being unknown, in October 1996 we performed extensive laboratory investigations concerning states of thrombophilia and found moderately elevated IgG anticardiolipin antibodies (19.7 U/ml) and a resistance against activated protein C caused by heterozygosity for a point mutation of the factor V gene (1691G-->A; factor V Leiden). As a consequence, oral anticoagulation with coumarin was initiated. In October 1997, elective liver transplantation was performed which led to disappearance of APC resistance. Moreover, IgG anticardiolipin antibodies have been negative since then. If BCS is caused by APC resistance, liver transplantation not only treats the chronic liver disease but also cures the state of thrombophilia since factor V is mainly synthesized in the liver.
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