JAK2 V617F mutation, mesenteric vein thrombosis, and myeloproliferative disorders

J Vasc Surg. 2010 Jul;52(1):205-7. doi: 10.1016/j.jvs.2010.01.097.

Abstract

Mesenteric vein thrombosis is a rare disorder that is often the first manifestation of a systemic condition such as a hypercoagulable state or cancer. In particular, myeloproliferative disorders can present as mesenteric vein thrombosis even in the setting of relatively normal peripheral blood counts. A recent novel mutation in the Janus activated kinase 2 gene involving a gain-of-function substitute of valine to phenylalanine at position 617 (JAK2 V617F) has been discovered to be prevalent in patients with mesenteric vein thrombosis and myeloproliferative disorders. This article reports a patient who presented with mesenteric vein thrombosis and relatively normal peripheral blood counts. He was diagnosed with essential thrombocythemia after he tested positive for the JAK2 V617F mutation.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Anticoagulants / therapeutic use
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Mesenteric Vascular Occlusion / blood
  • Mesenteric Vascular Occlusion / drug therapy
  • Mesenteric Vascular Occlusion / enzymology
  • Mesenteric Vascular Occlusion / genetics*
  • Mesenteric Veins
  • Point Mutation*
  • Thrombocythemia, Essential / blood
  • Thrombocythemia, Essential / diagnosis*
  • Thrombocythemia, Essential / drug therapy
  • Thrombocythemia, Essential / enzymology
  • Thrombocythemia, Essential / genetics
  • Tomography, X-Ray Computed
  • Venous Thrombosis / blood
  • Venous Thrombosis / drug therapy
  • Venous Thrombosis / enzymology
  • Venous Thrombosis / genetics*
  • Warfarin / therapeutic use

Substances

  • Anticoagulants
  • Warfarin
  • JAK2 protein, human
  • Janus Kinase 2