The following is a summary of “Utility of testing erythropoietin level in polycythemia diagnosis,” published in the October 2023 issue of Hematology by Ismail et al.
Polycythemia vera (PV) is associated with low erythropoietin (EPO) levels. Researchers started a retrospective study to review the utility of EPO levels in diagnosing polycythemia.
They performed a systematic literature review using Medline data from Pubmed and Google Scholar. Articles describing confirmed PV with elevated EPO levels were included. The search strategy used in Pubmed was (PV [MeSH Terms]) OR (jak2 protein tyrosine kinase[MeSH Terms])) OR (Myeloproliferative Disorders[MeSH Terms])) AND (EPO [MeSH Terms]), and ‘polycythemia vera with erythropoietin’ were employed in Google Scholar.
The results showed 4 cases of PV with elevated EPO levels. Headache was the most common symptom, with thrombotic phenomena occurring in a single case, such as Budd-Chiari syndrome. The mean hemoglobin (Hb) level was 20.2 g/dL, and the EPO level was 213 mIU/mL. While PV is typically associated with low EPO levels, high levels should not rule out the diagnosis. The diagnostic workup should involve testing for the JAK2 mutation and a bone marrow biopsy in the presence of suggestive signs and symptoms. Additionally, novel biomarkers were being proposed to assist in diagnosis.
Investigators concluded that elevated EPO in polycythemia suggests secondary causes, but PV cases exist, and JAK2 testing is warranted in symptomatic patients.