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

TL;DR

A 66-year-old man with primary myelofibrosis presented with multiple aneurysms and blood clots, highlighting the need to consider blood cancers in unexplained clotting cases.

Contribution

This case report highlights PMF as a potential underlying cause of unexplained thrombotic events and aneurysms.

Findings

Primary myelofibrosis (PMF) presented initially with thrombosis and aneurysms in a 66-year-old male.

JAK2 V617F mutation was identified, linking it to thrombotic complications and aneurysm formation.

MPNs may not show up clearly in blood counts, especially when coexisting conditions like β-thalassemia trait are present.

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.

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