Premature myocardial infarction as the initial manifestation of JAK2 positive polycythemia vera in a young adult: a case report

Abstract

Polycythemia vera is a clonal myeloproliferative neoplasm characterized by erythrocytosis and commonly associated with leukocytosis, thrombocytosis, and splenomegaly. Activating mutations in the JAK2 gene play a central role in its pathogenesis. Although typically a disease of older adults, polycythemia vera may present at a younger age with atypical and severe manifestations. We report the case of a 37-year-old Indian male who presented with massive splenomegaly and abnormal blood counts. Notably, the patient had a prior history of premature myocardial infarction requiring percutaneous coronary intervention at a young age, in the absence of conventional cardiovascular risk factors. Current evaluation revealed erythrocytosis, leukocytosis, thrombocytosis, and panmyelosis on bone marrow examination. Molecular testing confirmed the presence of a JAK2 mutation, establishing the diagnosis of polycythemia vera. The earlier myocardial infarction was retrospectively attributed to the underlying prothrombotic state associated with the disease. This case highlights that polycythemia vera may initially manifest as premature arterial thrombosis in young individuals. Awareness of such presentations is essential, as early diagnosis and appropriate management can prevent recurrent thrombotic complications and disease progression.