A 37-year-old Egyptian male presented to the emergency with a history of chest pain for three days. The pain was on & off, radiating to the left arm and associated with sweating and there were no other complaints. History was negative for any cardiovascular risk factors including hypertension, diabetes mellitus, dyslipidemia and family history of cardiac disease. He was a non-smoker and denied use of any recreational drugs. No past medical illnesses apart from appendicitis for which he underwent Laparoscopic Appendectomy in 2018.
Upon presentation, he was afebrile and vitally stable with a BP 140/90 and oxygen saturation of 99%. Physical examination was unremarkable. Initial ECG showed sinus rhythm with biphasic T wave inversion in V3 and V4 leads Figure (1). The following ECG revealed transient ST segment elevation in leads V2, V3 and V4 which quickly resolved without any evolving changes Figure (2).
His initial laboratory investigations showed alarming thrombocytosis and high hemoglobin with platelets of 877 X 10^3/ml hemoglobin of 17 gm/dl, hematocrit of 50 % and leukocytes of 10.4 X 10^3/ml. Renal parameters, liver function tests, lipid profile and coagulation profile were normal. His total cholesterol was 4.1 mmol/L and LDL cholesterol of 1.6 mmol/L.
Serial troponin T tests were mildly elevated with a value of 47, 45 with a maximum value of 54 ng/L. Echocardiogram revealed mildly reduced LV systolic function (EF 44 %) with akinetic apical segments, and grade 1 diastolic dysfunction. Patient was diagnosed as Non-ST elevation myocardial infarction (NSTEMI) based on the typical history of chest pain, pattern of changes on ECG and the extent of troponin rise which was not very high as usually seen in cases of ST elevation myocardial infarction (STEMI). He was treated with aspirin and clopidogrel, at first loading dose of 300 mg each and then maintenance dose. He also received enoxaparin anticoagulation with beta blockers and statins. Coronary angiogram revealed obstructive single vessel disease with severe atheromatous eccentric lesion in mid left anterior descending artery (LAD) Figure (3, A). PCI was done to the mid LAD with drug-eluting stent (DES) Xience Sierra Figure (3, B). After PCI he was kept on aspirin 100 mg once daily and switched to ticagrelor twice daily in addition to statin and beta blockers.
After resolution of the acute cardiac incident, platelets and hemoglobin remained high. Hence work up was done to investigate for Polycythemia Vera. ABG revealed no hypoxia, Erythropoietin level was 3.24 mIU/ml (2.5-18 mIU/ml), and JAK2 V617 mutation came back positive. Cytogenetics for BCR ABL were negative. Bone marrow biopsy was done to confirm Polycythemia Vera Figure(4). The diagnosis of non-ST elevation MI was made initially, followed by the diagnosis of Polycythemia vera. For the NSTEMI a drug eluting stent was placed, and he was kept on dual antiplatelet therapy. For the Polycythemia vera, cytoreduction with Interferon was started.
Peripheral blood shows moderate thrombocytosis, mild neutrophilia and within normal hemoglobin level and hematocrit percentage. Bone marrow (BM) aspirate smear shows trilineage hematopoiesis with 2% blasts.
BM biopsy was small and showed mild hypercellularity (~75-85%) with active trilineage hyperplasia (panmyelosis). There is megakaryocytic proliferation, displaying evident anisocytosis and pleomorphism, occur solitary and in few small loose/dense clusters. The bone marrow showed some dilated vascular sinuses.
No increase in CD34-positive blasts and no significant increase in reticulin fibers.
FISH analysis using BCR/ABL1 is negative.
Molecular genetics revealed Positive JAK2 V617F missense mutation.
Overall findings were consistent with a myeloproliferative neoplasm; the mild hypercellularity with marginal increase in hemoglobin/hematocrit (on previous CBC reading); would favor the diagnosis of early stage of Polycythemia Vera.