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Diagnosis of Polycythemia Vera (PV)

Due to the insidius nature of many of the myeloproliferative neoplasms, including PV, patients are diagnosed before symptoms appear. Abnormal laboratory results demonstrated in many patients with PV include:
  • Erythrocyte count > 6.0 x 1012/L
  • Hemoglobin >18.5 g/L (males) >16.5 g/dL (females)
  • Hematocrit >48% (females) and >52% (males)
  • WBC count >12.0 x 109/L
  • Platelet count >450 x 109/L
At least 95% of patients with PV will possess the JAK2(V617F) gene mutation, which helps to distinguish PV from other causes of erythrocytosis such as as secondary polycythemia or relative polycythemia.

The World Health Organization (WHO) has established the criteria listed below for the diagnosis of PV. It recommends two major criteria and one minor criterion or the first major criterion listed below together with two minor criteria for a diagnosis of PV:

  1. Hemoglobin of more than 18.5 g/dL in men, 16.5 g/dL in women, or elevated red cell mass greater than 25% above mean normal predicted value
  2. Presence of JAK2(V617F) other functionally similar mutations, such as the exon 12 mutation of JAK2
  1. Bone marrow biopsy showing hypercellularity with prominent erythroid, granulocytic, and megakaryocytic proliferation
  2. Serum erythropoietin level below normal range
  3. Endogenous erythroid colony formation in vitro