Refractory Arterial Insufficiency Associated with Janus Kinase 2 Positive Essential Thrombocythaemia

Ann Vasc Surg. 2017 Jan:38:317.e13-317.e16. doi: 10.1016/j.avsg.2016.05.117. Epub 2016 Aug 12.

Abstract

Essential thrombocythaemia (ET) is one of the severe rare clonal haematologic stem cell disorders that encompass myeloproliferative neoplasms. ET has a well-described association with peripheral arterial thrombosis, which presents a challenging clinical presentation. Further understanding into the underlying pathophysiology of thrombosis in ET has been made following the identification of the Janus Kinase 2 (JAK2) mutation, which is thought to confer a prothrombotic phenotype. Here we present a case of refractory arterial insufficiency associated with JAK2-positive ET.

Publication types

  • Case Reports

MeSH terms

  • Amputation, Surgical
  • Angioplasty, Balloon
  • Anti-Bacterial Agents / therapeutic use
  • Arterial Occlusive Diseases / diagnosis
  • Arterial Occlusive Diseases / enzymology
  • Arterial Occlusive Diseases / genetics*
  • Arterial Occlusive Diseases / therapy
  • Computed Tomography Angiography
  • DNA Mutational Analysis
  • Debridement
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hydroxyurea / therapeutic use
  • Janus Kinase 2 / genetics*
  • Middle Aged
  • Mutation*
  • Phenotype
  • Platelet Aggregation Inhibitors / therapeutic use
  • Platelet Count
  • Thrombocythemia, Essential / diagnosis
  • Thrombocythemia, Essential / drug therapy
  • Thrombocythemia, Essential / enzymology
  • Thrombocythemia, Essential / genetics*
  • Treatment Outcome
  • Wound Healing

Substances

  • Anti-Bacterial Agents
  • Platelet Aggregation Inhibitors
  • JAK2 protein, human
  • Janus Kinase 2
  • Hydroxyurea