Polycythemia Vera leading to Jaundice and Marantic Endocarditis, A Case Presentation

Polycythemia vera is an uncommon myeloproliferative neoplasm characterized by the abnormal proliferation and maturation of hematopoietic stem or progenitor cells. It is also known as one of the BCR-ABL1 negative myeloproliferative neoplasms, along with essential thrombocythemia and myelofibrosis. Incomparison to essential thrombocythemia and myelofibrosis, polycythemia is driven by JAK2 mutations, specifically JAK2V617F, an activating mutation encoding a tyrosine kinase [1]. This variant mutation is correlated with increased erythropoiesis and myelopoiesis, lower platelet count, higher incidence of splenomegaly, pruritus and thrombotic events. A 58-year-old male presented to the Emergency Department complaining of pruritus and painless jaundice. Comprehensive blood count revealed an elevated white blood cell count, hemoglobin/ hematocrit, and platelets. Total bilirubin was elevated at 30.3g/dL, with a direct bilirubin of 27g/dL. A Jak- 2 mutation was positive, which suggested a diagnosis of polycythemia vera although atypical given his jaundice. An Erythropoietin level was found to be less than 1, suggesting a primary cause of polycythemia vera. In addition, the patient was found to have marantic nonbacterial thrombotic endocarditis on transesophageal echocardiogram. Patient was treated with aspirin to prevent thrombotic events, hydroxyurea and cholestyramine. The patient’s physical examination of profuse jaundice along with an elevated direct bilirubin count of 27g/dL typically does not correlate to a presentation of polycythemia vera. Through further workup, the patient did not demonstrate hemolytic or intrahepatic causes, both intrinsic and extrinsic to the liver, which would of explained the jaundice presentation. This led to a conclusion that the patient’s polycythemia vera most likely caused the jaundice presentation.