A case report of large bilateral pulmonary embolism in a patient with JAK2 positive mutation

Venous thromboembolism may be the primary presentation in patients with polycythemia Vera and essential thrombocythaemia and the incidence of venous thromboembolism increases with age [1]. The Janus kinase 2 (JAK2V617F) mutation is the main molecular marker of the Philadelphia-negative chronic myeloproliferative neoplasms, responsible for 95% of polycythemia; 50% of thrombocythemia Vera and myelofibrosis cases [2]. We report a case of 74 year-old-patient presenting with shortness of breath for 3 days. Past medical history (PMH) includes hypertension and previous basal cell carcinoma of the neck and nose for which patients had surgical reconstruction. The patient’s vital showed oxygen saturation of 94% on 15 Liters, tachycardia with heart rate > 110, blood pressure 110/60 mmHg, and respiratory rate of 27. Laboratory results showed D-Dimer > 80000 ng/mL, Troponin T 130 ng/l, and Haemoglobin 182 g/L. Computerized tomography pulmonary angiogram showed bilateral pulmonary emboli with right heart strain. He was given a treatment dose of Tinzaparin and underwent emergency EkoSonic™ Endovascular System-Directed Thrombolysis (EKOS). The patient stabilized post EKOS and his vital signs improved within a few hours after the procedure. Oxygen saturation improved to over 96% on 2-3 Liters and both tachycardia and tachypnoea improved. The patient has commenced on Apixaban 5 mg twice daily (BD). He tested positive for JAK2 mutation and met two major and one minor criterion for PV and was referred to Haematology for outpatient follow-up.