Neda Rylskytė, Monika Kropaitytė, Daiva Emilija Rekienė, Rūta Venytė, Laima Jankauskienė, Jonas Jucevičius
Essential thrombocythemia is a myeloproliferative disease that is characterized by elevated platelet count, specific changes of megakaryocyte lineage in bone marrow as well as non-specific clinical symptoms. This case report presents a 40-year-old female complaining of episodic chest pain and shortness of breath. Cardiologists ruled out cardiovascular pathologies after performing electrocardiography (ECG), echocardiography, a complete blood count, and a treadmill test. After a recurring episode of chest pain, the patient was sent to the emergency department on suspicion of acute coronary syndrome or pulmonary embolism but routine tests (ECG, troponin I, D-dimers, computed tomography pulmonary angiography) excluded these diagnoses. Essential thrombocythemia was diagnosed based on bone marrow trephine biopsy results and positive genetic testing for JAK2 mutation. The patient was assigned to the low-risk group, therefore, she received aspirin therapy as well as correction of cardiovascular risk factors.
Keyword(s): essential thrombocythemia, thrombocytosis, myeloproliferative disease, bone marrow trephine biopsy.