Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
 3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 82-year-old male presented to the emergency department with an acute onset of chest pain and mild shortness of breath at rest. The pain in his left lower chest was pleuritic with intensity 9- on a 10-point scale. He had driven 2 h in his car that day, but had no other prolonged immobility. About 15 years previously, he was found to have increased hemoglobin (18.1 g/dL) and diagnosed with secondary erythrocytosis due to active smoking, chronic obstructive pulmonary disease (COPD), and residence in Payson, Arizona (altitude 4,999 ft). Polycythemia vera was entertained, but not pursued due to multiple secondary risks. He had been treated with daily aspirin and monthly phlebotomies to maintain a hematocrit below 45%. He also had a history of superficial thrombophlebitis, nephrolithiasis, hypertension and superficial transitional cell carcinoma of the bladder resected and in remission. There was also a deep venous thrombosis (DVT) and pulmonary embolism (PE) 13 years previously, believed to be provoked by prolonged immobility after a radical prostatectomy for prostate cancer now in remission. His medications were aspirin and lisinopril; he had no known drug allergies. He quit smoking 2 years prior after a 70 pack-year history. There was no other family history of thrombosis or bleeding disorder, autoimmune disorders, pulmonary disease or malignancy.
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PMID:A surprising cause of masses in the chest. 2307 27

Acute coronary syndrome (ACS) could be a precious opportunity for patients to reveal concealed diseases other than conventional risk factors for ACS, such as hypertension, dyslipidemia, diabetes mellitus, etc. In the setting of ACS, the intracoronary and systemic prothrombotic environment has led to an increase in the risk of stent thrombosis of which mortality was higher among patients with ACS, especially with the highest mortality in patients with ST elevation myocardial infarction. The some specific conditions which were concealed beyond the cardiovascular pathophysiology except well-known risk factors for ACS and stent thrombosis might involve the onset of ACS. We describe a case of a 64-year-old man who was admitted to intensive care unit for chest pain. This case found the possibility that polycythemia vera with Janus kinase 2 (JAK2) V617F mutation might be a underlying disease of ACS with stent thrombosis, and highlighted the importance of recognizing polycythemia vera with JAK2 V617F mutation as concealed disease for cardiologists. We would like to report and review the relationship between ACS and polycythemia vera with JAK2 V617F mutation.
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PMID:JAK2 mutation and acute coronary syndrome complicated with stent thrombosis. 2682 37

Pulmonary vein thrombosis (PVT) is a rarely encountered disease entity with varied clinical presentations. It is usually associated with lung carcinoma, lung surgeries and as a complication of the radiofrequency catheter ablation procedure for atrial fibrillation. Its clinical manifestations can vary from mild hemoptysis to lung infarction with hemodynamic compromise. A 76-year-old male presented with a 2-d history of pleuritic left sided chest pain. His past medical history included polycythemia vera, atrial fibrillation, coronary artery disease, pulmonary embolism and pulmonary hypertension. Chest radiograph was normal, troponins were normal and the 12-lead electrocardiogram did not show any ischemic changes. A computerized tomography pulmonary angiogram revealed a filling defect in the left lower lobe pulmonary vein. He was treated with subcutaneous enoxaparin and his symptoms improved. This case highlights a rare etiology of chest pain and the first reported case of the association of polycythemia vera and pulmonary vein thrombosis. A high index of suspicion is required for appropriate diagnostic work up. PVT can mimic pulmonary embolism. The diagnostic work up and treatment strategies depend on acuity of presentation.
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PMID:Pulmonary vein thrombosis in a patient with polycythemia vera. 2795 55

A 59-year-old female was brought to our emergency room with severe chest pain. Based on the electrocardiogram (ECG) and echocardiography, an acute coronary syndrome (ACS) was suspected. Her initial ECG showed ST elevation in the inferior leads (II, III, and aVF), which had progressed to involve the anterior leads (V2-V4) by the time she was shifted to the catheterization room. A coronary angiogram revealed total occlusion of the mid-left anterior descending (LAD) artery and a filling defect of the distal right coronary artery. Although we had emergently treated her using thrombus aspiration following stent implantation, lots of thrombi re-formed on the stent. We surmised her ACS was primarily caused by thrombus formation due to polycythemia vera (PV) based on the presence of increased blood consistency on admission. We performed repetitive long-inflation using a perfusion balloon and repeated thrombus aspiration. Finally, she was diagnosed as an untreated case of PV as a result of detailed blood investigations. Thereafter, we successfully treated her using the combination of dual antiplatelet therapy and direct oral anticoagulant therapy. Our experience highlights the importance of an urgent identification of PV. Effective management strategies should be successfully implemented in such patients as soon as possible. <Learning objective: Polycythemia vera (PV) is an idiopathic, chronic myeloproliferative disease characterized by an increased red blood cell count and hematocrit, which in turn causes systematic thrombosis. A resultant acute myocardial infarction is therefore complicated and difficult to manage, due to the patient's continuous hypercoagulable state. In the absence of a defined treatment approach, newer and successfully implemented strategies for the management of consequent thrombotic events in PV patients are indispensable to clinicians.>.
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PMID:Acute myocardial infarction following sequential multi-vessel occlusion in a case of polycythemia vera. 3196 36

A few types of myeloproliferative neoplasms may be significant for Janus-associated kinase 2 mutation, JAK2 V617F, including polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The prevalence of JAK2 mutation is low in the general population but higher in patients with myeloproliferative neoplasms. Some patients with JAK2 V617F-positive essential thrombocythemia are asymptomatic, but others may develop hemorrhagic or thromboembolic complications. Thromboembolism may occur in vessels of high flow organs like the heart and, thereby, present as myocardial infarction. Nonetheless, these patients are usually symptomatic with complaints of chest pain, for example. Atypical (asymptomatic) myocardial infarction with mild thrombocytosis may be the first clue for possible essential thrombocythemia with JAK2 V617F. In this report, we discuss a case of atypical (asymptomatic) myocardial infarction with secondary thromboembolism in a patient positive for JAK2 V617F with a likely myeloproliferative neoplasm.
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PMID:Atypical Myocardial Infarction with Apical Thrombus and Systemic Embolism: A Rare Presentation of Likely JAK2 V617F-Positive Myeloproliferative Neoplasm. 3268 24