Multiple Aneurysms and Thrombotic Events as Initial Manifestations of Primary Myelofibrosis: A Case Report

Konstantinos Manganas1, Thrasyvoulos Bemplidakis1, Klairi Papachristou1

  • 1First Department of Propaedeutic and Internal Medicine, Laiko General Hospital, Athens, GRC.

Cureus
|March 26, 2025
PubMed

Insights

Primary myelofibrosis (PMF) can manifest initially as serious thrombotic events and aneurysms. Early diagnosis of myeloproliferative neoplasms is crucial for managing these complex conditions.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by bone marrow fibrosis.
  • Thrombotic events and aneurysms are known complications, but their presentation as initial manifestations is less common.

Observation:

  • A 66-year-old male presented with deep venous thrombosis (DVT), pulmonary embolism (PE), and a ruptured iliac aneurysm.
  • The patient developed a retroperitoneal hematoma during anticoagulation therapy due to pre-existing aneurysms.
  • Genetic testing revealed a JAK2 V617F mutation, and bone marrow biopsy confirmed PMF.

Findings:

  • The JAK2 V617F mutation was identified, confirming the diagnosis of PMF.
  • The patient's thrombotic and hemorrhagic complications were managed, leading to stabilization of hematological parameters.
  • Coexisting conditions, such as beta-thalassemia trait, can influence complete blood count findings in MPNs.

Implications:

  • This case highlights the importance of considering myeloproliferative neoplasms in the differential diagnosis of unexplained thrombotic events and aneurysms.
  • Vigilant monitoring is essential for patients with JAK2 mutations due to their association with thrombotic complications and aneurysm formation.
  • Complete blood count may not always reveal MPNs initially, necessitating comprehensive diagnostic evaluation.

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