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An unprovoked thombotic event in a patient is cause for further evaluation of an underlying hypercoaguable state. The investigation should include a thorough search, including checking for a variety of known inherited and acquired hypercoaguble states (protein C or S deficiency, anti-phospholipid antibodies, and anti-thrombin III deficiency) and gene mutations that predispose patients to an increased risk of clotting (for example, prothrombin gene 20210 mutation, factor V Leiden, and the  JAK2 V617F  mutation).    Case presentation  We report the case of a 38-year-old Caucasian woman with spontaneous, unprovoked abdominal venous thrombosis and demonstrate how testing for the  JAK2 V617F  mutation was useful in unmasking an underlying hypercoaguable state.    Conclusions   JAK2 V617F -positive myeloproliferative neoplasm was diagnosed. This case illustrates the importance of testing for  JAK2 V617F  in patients presenting with Budd-Chiari syndrome, even in the absence of overt hematologic abnormalities, in order to establish a diagnosis of underlying myeloproliferative neoplasm.

Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case report