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Essential thrombocythemia - a predisponent factor for stroke.

Tânia Filipa Pereira Batista1, Paula Ferreira Manuel1, António Carvalho Correia1

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Summary
This summary is machine-generated.

Essential thrombocythemia, a myeloproliferative neoplasm, can cause stroke. This case highlights a JAK2 V617F mutation in an elderly patient treated successfully with hydroxyurea.

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Area of Science:

  • Hematology
  • Oncology
  • Internal Medicine

Background:

  • Essential thrombocythemia is a myeloproliferative neoplasm characterized by increased platelet production.
  • It can lead to thrombo-hemorrhagic complications, including ischemic stroke.
  • Sustained thrombocytosis necessitates investigation into underlying causes and associated mutations.

Purpose of the Study:

  • To report a case of essential thrombocythemia presenting with ischemic stroke.
  • To investigate the genetic basis of the thrombocytosis, specifically the JAK2 V617F mutation.
  • To describe the management and outcome of the patient.

Main Methods:

  • Clinical case presentation of an 81-year-old female.
  • Diagnostic workup including spinal study and JAK2 V617F mutation analysis.
  • Initiation of cytoreductive therapy with hydroxyurea.

Main Results:

  • The patient presented with a history of ischemic stroke.
  • The JAK2 V617F mutation was detected, confirming essential thrombocythemia.
  • Cytoreductive therapy with hydroxyurea resulted in a favorable clinical evolution.

Conclusions:

  • Essential thrombocythemia is a significant risk factor for ischemic stroke.
  • JAK2 V617F mutation testing is crucial in diagnosing essential thrombocythemia.
  • Hydroxyurea is an effective treatment for managing essential thrombocythemia and its complications.