Incipient essential thrombocythemia: case report

Authors

  • Tiago Costa-Freitas Médico Interno de Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Pedro Filipe Tavares Médico Especialista em Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Leonor Ferreira da Silva Médica Interna de Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Madalena Braga Médica Interna de Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Nuno Mendanha Pereira Médico Interno de Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Felicidade Malheiro Médica Especialista em Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Gustavo Fernandes Médico Especialista em Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.
  • Miguel Magalhães Médico Especialista em Medicina Geral e Familiar. USF Arca D'Água. Porto, Portugal.

DOI:

https://doi.org/10.32385/rpmgf.v40i1.13605

Keywords:

Case report, Essential thrombocythemia, Thrombosis, Janus kinase 2, Portal vein

Abstract

Introduction: Essential thrombocythemia (ET) is an asymptomatic rare condition in most cases. Nonetheless, symptoms like headache, syncope, vertigo, thoracic pain, erythromelalgia, and transient visual disturbances may surge. The major concerns of this pathology are hemorrhagic and thromboembolic events. The aim of sharing this case report is to alert for the existence of this rare pathology that can go unnoticed and cause potentially serious events.

Case description: Female, 43-year-old, Caucasian. Background of chronic B hepatitis, without surgical background nor usual medication, including the contraceptive pill. She appealed to a medical appointment with an early feeling of fullness when eating, dyspepsia, and epigastric pain in the last three days. She denied changes in intestinal habits, feces characteristics, nausea, or vomiting. Physical examination and recent upper endoscopic study were normal. The hospital medical record was examined, verifying that platelet levels were consistently rounding 500,000/uL for the past three years. An abdominal ultrasonography was requested, and it described a partial portal vein and left branch thrombosis. The patient started enoxaparin 60mg every 12 hours. It was conducted an abdominal angiotomography, prothrombotic, and genetic study, including the JAK2 V617F mutation. The patient started warfarin 5mg one time daily, initially overlaid with enoxaparin 60mg 12h/12h. The abdominal angiotomography would confirm the portal vein thrombosis and the JAK2 V617F mutation study was positive. It was assumed the diagnosis of ET and was initiated cytoreductive therapy with hydroxyurea 500mg on alternated days.

Comment: This case report shows that the excessive platelet count, secondary to ET, even if slightly above the reference value, caused a portal vein thrombosis. We aim to alert family physicians to the importance of doing a careful study, valuing little sustained variations out of the normal intervals, and referring correctly and promptly when necessary.

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Published

2024-02-28

How to Cite

Incipient essential thrombocythemia: case report. (2024). Portuguese Journal of Family Medicine and General Practice, 40(1), 77-82. https://doi.org/10.32385/rpmgf.v40i1.13605