Snapshot A 59-year-old woman presents to her primary care physician with overwhelming fatigue, headaches, and some blurry vision. She is worried that old age is finally catching up. While she is happy about losing 10 lbs over the past month, she is also confused since she has not changed her diet or exercise routine. On further questioning, she reveals that she is extremely itchy after a hot bath or shower. She is otherwise healthy. A blood smear shows RBC precursors. Introduction Myeloproliferative neoplasm characterized by increased production of RBCs leads to highly viscous blood Epidemiology presentation in those aged 60-70 Pathogenesis mutations in JAK2 (Janus kinase) V617F mutation constitutively active Janus kinase → unregulated myeloproliferation erythrocytosis → ↑ blood viscosity leukocytosis thrombocytosis Associated conditions risk of progression to myelofibrosis or leukemia Budd-Chiari syndrome caused by occlusion of IVC or hepatic veins leading to congestive liver disease Prognosis 1.6x higher mortality than general population Presentation Symptoms headaches visual disturbance bleeding caused by engorged vessels constitutional symptoms fatigue night sweats weight loss fever malaise pruritus caused by histamine release from increased basophils often triggered by hot shower or bath Physical exam erythromelalgia (rare but classic) caused by thrombosis characterized by painful burning sensation with increased temperatures in digits and episodic blood clots in extremities hepatosplenomegaly bruising ischemic digits large retinal veins on funduscopy Evaluation Labs complete blood count with smear will show ↑ hemoglobin > 16 g/dL (females) or > 16.5 g/dL (males) ↑ hct > 48% (F) or > 49% (M) JAK2 mutation in peripheral blood ↓ serum EPO ↑ RBC despite low EPO if EPO is high, consider ectopic EPO production (e.g., in renal cell carcinoma) ↓ MCV SaO2 normal Bone marrow biopsy shows hypercellularity and prominent proliferation of all cell lines commonly see precursor cells used to confirm diagnosis used as a baseline for assessing disease progression Differential Diagnosis Secondary polycythemia key distinguishing factors volume depletion will also present with increased BUN/creatinine ratio Tumor-driven polycythemia Other myeloproliferative neoplasm Treatment Reduce risk of thrombosis low-dose aspirin phlebotomy indicated for a hematocrit < 45% Myelosuppression hydroxyurea Gout prophylaxis allopurinol Complications Thrombosis leading cause of morbidity and mortality Peptic ulcers increased histamine release from basophils Gout increased uric acid from high number of cell turnover Progression to myelofibrosis CML AML
QUESTIONS 1 of 4 1 2 3 4 Previous Next (M1.ON.17.4798) A 66-year-old male with a history of diabetes and knee osteoarthritis presents to his primary care provider in July complaining of headaches and blurry vision. He reports a 6-month history of occasional dull diffuse headaches and blurry vision. He notes that the episodes have increased in severity since the weather got warmer and that he occasionally feels extremely itchy when he spends time outdoors. The patient lives in southern Arizona. Moreover, he has felt chronically fatigued and has lost 10 pounds without dieting or changing his appetite. He currently takes metformin and his most recent hemoglobin A1c was 6.5%. Physical examination reveals multiple bruises on the bilateral upper and lower extremities and hepatosplenomegaly. Fundoscopic examination demonstrates enlarged retinal veins. Multiple laboratory tests are pending. At steady state, which of the following sets of findings is most likely in this patient? Tested Concept QID: 109194 Type & Select Correct Answer 1 Increased plasma volume, increased RBC mass, decreased EPO, normal SaO2 44% (46/104) 2 Normal plasma volume, increased RBC mass, increased EPO, normal SaO2 19% (20/104) 3 Decreased plasma volume, normal RBC mass, normal EPO, normal SaO2 12% (12/104) 4 Normal plasma volume, increased RBC mass, increased EPO, decreased SaO2 16% (17/104) 5 Increased plasma volume, decreased RBC mass, decreased EPO, normal SaO2 5% (5/104) M 1 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review tested concept Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M1.ON.15.75) A 56-year-old man presents to his primary care physician endorsing fatigue, episodic pruritus, and headaches. These symptoms have been occurring for the last 1-2 months but have gotten progressively worse over time. His wife has noticed a new "ruddy" color to his skin that has developed during this period. He is otherwise healthy, with no medical problems. On examination, the patient appears fatigued and plethoric. A complete blood cell count reveals a hematocrit of 59% with no other abnormalities. A peripheral blood smear is shown in Figure A. Mutation in which of the following genes is responsible for the patient's condition? Tested Concept QID: 106754 FIGURES: A Type & Select Correct Answer 1 BCR-ABL 10% (13/126) 2 RET 6% (8/126) 3 p53 7% (9/126) 4 JAK2 71% (90/126) 5 FLT3 3% (4/126) M 1 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review tested concept Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK
All Videos (1) Login to View Community Videos Login to View Community Videos Polycythemia Vera Luigi Bonini Oncology - Polycythemia Vera D 3/20/2016 34 views 5.0 (1)