SEARCH RESULTS FOR: Polycythemia-Vera-Pathogenesis

Polycythemia Vera Pathogenesis

Polycythemia Vera (PV): Pathogenesis and Clinical Findings Authors: Caitlin Bittman Noriyah Al Awadhi Yan Yu Peter Duggan* Reviewers: Maharshi Gandhi Kevin Zhan Michelle J. Chen Paul Ratti Merna Adly Crystal Liu Kareem Jamani* Man-Chiu Poon* Lynn Savoie* * MD at time of publication Familial PV inherited as autosomal dominant incomplete penetrance (5% of PV cases) Predisposition to acquire a second somatic mutation Hematopoietic cells with no known mutations in their DNA Acquired JAK2 (Janus kinase 2) mutation in a single hematopoietic pluripotent stem cell in the bone marrow JAK2 mutated cells in the bone marrow ↑ production of hematopoietic cells (RBCs, WBCs, platelets) and cytokines DNA changes leads to continuous replication of the mutated cell Abnormal cell becomes the predominant hematopoietic stem cell in the bone marrow ↑ RBC production independent of erythropoietin (EPO) ↑ Mast cell production ↑ Leukocyte production (basophils, neutrophils, eosinophils, monocytes ↑ Platelet production (thrombocytosis) Overproduced platelets often have abnormal function of activation and aggregation Hypercellular bone marrow on biopsy with trilineage growth (erythroid, granulocytic, and megakaryocytic cell lines) ↑ Hemoglobin concentration ↑ Hematocrit (proportion of blood volume occupied by RBCs) ↑ RBC leads to down-regulation of EPO by kidneys ↓ Serum EPO ↑ Levels of histamine, which is stored in granules within basophils & mast cells Contact with water causes degranulation and subsequent histamine release from mast cells & basophils Aquagenic pruritis (itchy skin after contact with water) Histamines released from mast cells in the stomach causes hypersecretion of gastric acid Stomach ulcers Acquired Von Willebrand syndrome (with platelets >1,000,000/microL) Despite thrombocytosis, there is an ↑ risk of bleeding due to platelet dysfunction ↑ Risk of hemorrhage & abnormal bleeding (e.g. GI and mucosal bleeding) Easy bruising, purpura, petechiae, dental bleeds, epistaxis Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published Aug 7, 2012; updated Feb 22, 2025 on www.thecalgaryguide.com

Polisitemia Vera Patogenesis dan Temuan Klinis

Polisitemia Vera (PV): Patogenesis dan Temuan Klinis