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Diagnostic approach to the patient with polycythemia

Ayalew Tefferi, MD
Section Editor
Stanley L Schrier, MD
Deputy Editor
Alan G Rosmarin, MD


Polycythemia is a laboratory finding in which there is an increased number of red blood cells (RBC), along with an accompanying increase in the concentration of hemoglobin in the peripheral blood. The approach to the patient with polycythemia will be reviewed here. The approach to confirming a diagnosis of polycythemia vera is discussed separately. (See "Clinical manifestations and diagnosis of polycythemia vera".)


The red blood cell (RBC) count, hemoglobin (HGB), and hematocrit (HCT) are concentrations and therefore dependent upon the plasma volume as well as the total RBC mass (RCM).

Relative polycythemia — An isolated decrease in plasma volume can elevate the HGB, HCT, and RBC count without increasing the RCM; this is referred to as relative polycythemia. The state of chronically reduced plasma volume with elevated HGB or HCT has been called Gaisbock's disease, spurious polycythemia, stress erythrocytosis, apparent polycythemia, and pseudopolycythemia [1-4], although many may be examples of smokers' polycythemia (see 'Reduced plasma volume' below) [5].

Absolute polycythemia — In absolute polycythemia (also called erythrocytosis) there is an increased RCM. Patients are further categorized into primary and secondary forms (table 1).

Primary polycythemia — Primary polycythemia is caused by an acquired or inherited mutation leading to an abnormality within RBC progenitors; it includes polycythemia vera (PV) and rare familial variants (eg, activating mutations of the erythropoietin receptor, Chuvash polycythemia). (See "Molecular pathogenesis of congenital polycythemic disorders and polycythemia vera".)

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Literature review current through: Nov 2017. | This topic last updated: Feb 15, 2017.
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