Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case report
Journal of Medical Case Reports(2012)
摘要
Introduction 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.
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关键词
Migraine With Aura, Polycythemia Vera, Paroxysmal Nocturnal Hemoglobinuria, JAK2 V617F, JAK2 V617F Mutation
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