Polycythemia Vera Diagnosis and Clinical Considerations

Diagnostic Criteria

Polycythemia vera (PV) may develop slowly and remain unrecognized for years. When it comes to diagnosing PV, patients may present with 3 main clinical scenarios, as shown in the diagram to the right.1

DOWNLOAD DIAGNOSTIC CRITERIA

shows chart of initial presentation splitting into 3 categories labeled as asymptomatic, thrombosis and disease related symptoms or splenomegaly
World Health Organization (WHO) diagnostic criteria for PV2
Major criteria:
  • Hemoglobin >16.5 g/dL in men, >16.0 g/dL in women or hematocrit (Hct) >49% in men, >48% in women, or increased red cell mass >25% above mean normal predicted value
  • Bone marrow biopsy showing hypercellularity for age with trilineage growth (panmyelosis), including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size)
  • Presence of JAK2V617F or JAK2 exon 12 mutation
Minor criterion:
  • Subnormal serum erythropoietin level
JAK, Janus-associated kinase. aBone marrow biopsy may not be required in cases with sustained absolute erythrocytosis: Hemoglobin levels >18.5 g/dL in men (hematocrit 55.5%) or >16.5 g/dL in women (hematocrit 49.5%) if mutation criterion and the minor criterion are present. However, initial myelofibrosis (MF) (present in up to 20% of patients) can only be detected by performing a bone marrow biopsy; hypercellularity may predict a more rapid progression to overt MF (post–PV MF).

Traditional Considerations When Assessing Risk

Recommendations for the management of polycythemia vera are aimed at lowering the risk of thrombosis.3

Assessment also includes evaluation of general cardiovascular risk factors.

Clinical Need in Polycythemia Vera

Goals that drive clinical decision-making for PV include3,5,6:

  • Maintaining an Hct level of <45%
  • Managing the complications of thrombosis and hemorrhage
  • Controlling leukocyte and platelet counts
  • Managing disease-related symptoms and splenomegaly
  • Lowering the risk of thrombotic events without increasing the risk of leukemic transformation
  • Controlling progressive bone marrow hyperplasia

Phlebotomy is usually the starting point of treatment in patients with PV, in addition to therapy with low-dose aspirin.3,7 Low-dose aspirin has been shown to prevent thrombotic complications in patients with PV.8

Cytoreductive therapy is utilized in patients with high-risk PV. Cytoreductive therapy may also be helpful in patients who have difficulty with phlebotomy, who have symptomatic or progressive splenomegaly, or who experience severe disease-related symptoms.3

References

1. Passamonti F. Blood. 2012;120(2):275-284. 2. Arber DA , Orazi A, Hasserjian R, et al. Blood. 2016;127(20):2391-2405. 3. Barbui T, Barosi G, Birgegard G, et al. J Clin Oncol. 2011;29(6):761-770. 4. Falanga A, Marchetti M. Hematology Am Soc Hematol Educ Program. 2012;2012:571-581. 5. Alvarez-Larrán A, Pereira A, Cervantes F, et al. Blood. 2012;119(6):1363-1369. 6. Barosi G, Mesa R, Finazzi G, et al. Blood. 2013;121(23):4778-4781. 7. Marchioli R, Finazzi G, Specchia G, et al; for the CYTO-PV Collaborative Group. N Engl J Med. 2013;368(1):22-33. 8. Landolfi R, Marchioli R, Kutti J, et al; for the European Collaboration on Low-Dose Aspirin in Polycythemia Vera Investigators. N Engl J Med. 2004;350(2):114-124.

 
Resources