Understanding Polycythemia: Advances in Diagnosis and Management
Polycythemia is a hematologic condition characterized by an abnormal increase in red blood cell mass. This elevation in red cell volume thickens the blood, leading to a higher risk of clotting events, stroke, and other complications. Polycythemia can be either primary, as seen in polycythemia vera (PV), or secondary to other underlying conditions. Recent advances in diagnostic techniques and therapeutic approaches have significantly improved the management and prognosis of patients with polycythemia.
Types and Causes
Polycythemia is broadly categorized into primary and secondary forms. Primary polycythemia, most notably polycythemia vera, is a myeloproliferative neoplasm resulting from a mutation in the JAK2 gene. This mutation leads to uncontrolled production of red blood cells in the bone marrow, independent of the body’s oxygen needs.
Secondary polycythemia, on the other hand, results from external factors that stimulate erythropoietin (EPO) production, such as chronic hypoxia, tumors producing EPO (like renal cell carcinoma), or living at…