JAK2+ Essential Thrombocythemia in a Young Girl With Budd-Chiari Syndrome: Diagnostic and Therapeutic Considerations When Adult Disease Strikes the Young

J Pediatr Hematol Oncol. 2016 Jan;38(1):70-3. doi: 10.1097/MPH.0000000000000453.

Abstract

A 12-year-old female with Budd-Chiari syndrome underwent liver transplant and subsequent splenectomy. Her platelet count began to rise postoperatively after previous normal values. JAK2V617F-positive essential thrombocythemia (ET) was diagnosed. This case demonstrates that the diagnosis of ET should be considered in the face of normal platelet counts and included on the differential diagnosis for pediatric patients. With this population in mind, we review the current literature on long-term use of platelet-lowering agents. We conclude that it is reasonable to use anagrelide as a first-line treatment for ET diagnosed according to the World Health Organization (WHO) system. In cases where WHO criteria do not result in a definitive diagnosis or when a patient experiences thrombotic events despite anagrelide therapy, hydroxyurea may be utilized as a first-line agent or as an adjunct. Further study in this area is warranted.

Publication types

  • Case Reports

MeSH terms

  • Budd-Chiari Syndrome / complications*
  • Budd-Chiari Syndrome / surgery
  • Child
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Liver Transplantation
  • Platelet Aggregation Inhibitors / therapeutic use
  • Quinazolines / therapeutic use
  • Splenectomy
  • Thrombocythemia, Essential / complications*
  • Thrombocythemia, Essential / drug therapy
  • Thrombocythemia, Essential / genetics*

Substances

  • Platelet Aggregation Inhibitors
  • Quinazolines
  • JAK2 protein, human
  • Janus Kinase 2
  • anagrelide