Budd-Chiari syndrome associated with factor V Leiden mutation: A report of6 patients

Budd-Chiari syndrome is characterized by hepatic venous outflow obstruction . Although myeloproliferative disorders are usually responsible for this se vere thrombotic disorder, deficiency or dysfunction of the natural anticoag ulants can be involved. Resistance to activated protein C caused by factor V Leiden mutation has been recently identified as a major cause of thrombop hilia. We report 6 patients with Budd-Chiari syndrome associated with facto r V Leiden mutation combined with another acquired thrombophilic state (mye loproliferative disorder and lupus anticoagulant in 3 cases) and without an other thrombophilic disorder in the other 3 cases. We conclude that factor V Leiden mutation should be evaluated in any case of hepatic vein occlusion because the prevalence of this mutation in the general population is high. Copyright (C) 1999 by the American Association for the Study of Liver Dise ases.