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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.
Abstract:
This case report presents a 66-year-old male who developed deep venous thrombosis (DVT), pulmonary embolism (PE), and a ruptured iliac aneurysm as initial manifestations of primary myelofibrosis (PMF). Due to the presence of pre-existing aneurysms in combination with anticoagulation therapy, the patient experienced a retroperitoneal hematoma, necessitating temporary cessation of treatment. Genetic testing revealed a JAK2 V617F mutation and bone marrow biopsy confirmed PMF. The patient's recovery was uneventful, with hematological parameters stabilized upon discharge. The case emphasizes the importance of considering myeloproliferative neoplasms (MPNs) in the differential diagnosis of unexplained thrombotic events. JAK2 mutations are linked to thrombotic complications and aneurysm formation, highlighting the need for vigilant monitoring. It is also important that MPNs may not initially be evident in a complete blood count, while coexisting conditions, such as β-thalassemia trait in this patient's case, can alter the blood count findings.
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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