Two Onc Docs Polycythemia Vera 2025
Jan 15, 2025
Dive into the complexities of Polycythemia Vera, a condition characterized by excessive red blood cell production. Learn about the critical JAK-STAT pathway and its mutations that influence treatment decisions. Discover how to differentiate between primary and secondary forms of the disease through essential blood tests. Explore targeted strategies for managing high and low-risk patients, including the use of aspirin, hydroxyurea, and recent clinical trials. Special considerations for unique populations, like pregnant patients, round out this informative discussion.
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Understanding Polycythemia Vera
- Polycythemia Vera (PV) is characterized by the overproduction of red blood cells, independent of erythropoietin (EPO).
- This often leads to elevated hemoglobin or hematocrit, sometimes with increased white blood cells and platelets.
Diagnosing PV
- Diagnosing PV involves checking for a low EPO level, indicating that red blood cell production is not driven by EPO.
- Multiple mutations in the JAK-STAT pathway can cause myeloproliferative neoplasms (MPNs), including PV.
Genetic Basis of PV
- The JAK2 mutation is the most common driver in PV, present in 98-99% of cases.
- Specifically, the JAK2V617F mutation in exon 14 is most prevalent (96%), with 3% having an exon 12 mutation.