A Delay in the Identification and Diagnosis of Polycythaemia Vera in a Patient Presenting With Chest Pain: A Case Report

Polycythaemia vera (PV) is a chronic myeloproliferative neoplasm characterised by proliferation of erythroid lineages leading to erythrocytosis and can also present with variable proliferation of myeloid and megakaryocytic lineages causing leukocytosis and thrombocytosis. PV is strongly associated with mutations in the JAK2 gene with the mutation being found in >95% of patients with PV. It can present with splenomegaly, which tends to cause abdominal pain. Diagnosis is based on the WHO criteria, which is based on haemoglobin and haematocrit levels, the presence of JAK2 mutations and erythropoietin levels with bone marrow changes. Typically, PV is managed with low-dose aspirin to prevent thrombotic complications, venesection to control haematocrit and cytoreductive therapy. This case discusses an unusual presentation of a patient with polycythaemia vera who presented with chest pain, leading to delays in diagnosis.