Which lab findings confirm the diagnosis of polycythemia vera (PV)?

Updated: Sep 20, 2021
  • Author: Srikanth Nagalla, MD, MS, FACP; Chief Editor: Sara J Grethlein, MD, FACP  more...
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The most important diagnostic tests are JAK2 mutation analysis and the serum erythropoietin (Epo) level. A positive JAK2 V617F mutation and a low Epo level confirms the diagnosis of PV.

A low serum Epo level, which is decreased in nearly all patients with PV who have experienced no recent hemorrhage, distinguishes polycythemia from secondary causes of polycythemia in which the serum Epo level is generally within the reference range or is elevated. Each laboratory has its own reference range for serum Epo levels.

Endogenous erythroid colony (EEC) formation, a minor diagnostic according to 2008 WHO diagnostic criteria for PV, has been eliminated from the 2016 criteria. Insulin-like growth factor 1 receptor (IGF-1R) has been found to be responsible for the EEC formation in PV, and Wang et al found significantly elevated IGF-1R levels in the peripheral blood of 14 of 16 (87%) PV patients. [18]

In comparison, none of 33 patients with secondary polycythemia and 29 normal controls had elevated IGR-1R levels. In addition, IGF-1R levels were significantly higher in patients with PV who were treated with phlebotomy only, compared with those treated with hydroxyurea or ruxolinitinib. [18]

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