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Open Access Case report

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

Naveen Pemmaraju1*, James Peter Hamilton2, Andrew M Cameron2, Stephen Sisson2 and Alison R Moliterno2

Author Affiliations

1 MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, TX 77030, USA

2 Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21287, USA

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Journal of Medical Case Reports 2012, 6:102  doi:10.1186/1752-1947-6-102

Published: 5 April 2012

Abstract

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.