polycythemia vera
Also written as: PV — polycythemia vera
A myeloproliferative neoplasm characterized by excessive production of red blood cells, typically associated with JAK2 mutations.
Full Definition
Polycythemia vera is a clonal hematopoietic stem cell disorder classified as a myeloproliferative neoplasm. The disease is characterized by increased red blood cell mass leading to elevated hemoglobin and hematocrit levels. Most cases are associated with the JAK2 V617F mutation, which leads to hypersensitivity to growth factors. Clinical manifestations include hyperviscosity symptoms, thrombotic complications, and constitutional symptoms. The disease may transform to myelofibrosis or acute leukemia over time. Treatment focuses on reducing thrombotic risk through phlebotomy to maintain target hematocrit levels and cytoreductive therapy when indicated.
Usage
Usage note: Distinguish from secondary polycythemia, which has an underlying cause.
In Context
- "The patient's elevated hemoglobin and JAK2 mutation confirmed the diagnosis of polycythemia vera." — diagnostic summary
- "Regular phlebotomy maintained the target hematocrit in this patient with polycythemia vera." — treatment plan