Diagnosing Polycythemia Vera

Diagnostic Criteria

Polycythemia vera 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 sphenomegaly
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 >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).
References

1. Passamonti F. Blood. 2012;120:275-284. 2. Arber DA , Orazi A, Hasserjian R, et al. Blood. 2016;127(20):2391-2405.

 
Resources
The potential impact of a target hematocrit level of <45% on major thrombosis or cardiac death.
By: MPN Connect
An animated video highlighting PV pathophysiology and mechanisms of disease.