Multiple Aneurysms and Thrombotic Events as Initial Manifestations of Primary Myelofibrosis: A Case Report
Year: 2025
Type: article
Study design: Case Report
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.
Source: Cureus
DOI: 10.7759/cureus.79519
Institution: Laiko General Hospital of Athens
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4407864351
