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Clinical manifestations and diagnosis of polycythemia vera

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


Polycythemia vera (PV, polycythemia rubra vera, maladie de Vaquez) is one of the chronic myeloproliferative neoplasms (MPNs), which are collectively characterized by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. PV is distinguished clinically from the other MPNs by the presence of an elevated red blood cell mass. However, an increased red blood cell mass alone is insufficient to establish the diagnosis, since this is also observed in conditions associated with chronic hypoxia and with erythropoietin-secreting tumors (table 1). (See "Overview of the myeloproliferative neoplasms".)

The clinical manifestations and diagnosis of PV will be discussed here. The prognosis and treatment of PV and the overall approach to the patient with polycythemia are discussed separately. (See "Prognosis and treatment of polycythemia vera" and "Diagnostic approach to the patient with polycythemia".)


PV occurs in all populations, and all ages, including early adulthood and occasionally in children and adolescents [1-3]. The median age at diagnosis is approximately 60 years [4,5]. Approximately one-quarter of cases present before age 50 years and one-tenth before age 40 years.

The incidence of PV in Olmsted County, Minnesota, during the period from 1935 through 1989, was estimated to be 1.9/100,000 per year, approximately one-half that for multiple myeloma in the same population [6]. The incidence of PV is slightly higher in men than women (2.8 versus 1.3 cases/100,000 per year) and is highest for men aged 70 to 79 years (24 cases/100,000 persons per year) [6]. The incidence is lower in Japan than in the United States and Europe [7].  

While there is no known familial disposition to PV, rare families have been described in which multiple members develop myeloproliferative neoplasms, including PV [8]. Studies of these families suggest the presence of an autosomal dominant mutation that may predispose to acquisition of a secondary somatic mutation such as a JAK2 mutation.

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Literature review current through: Nov 2017. | This topic last updated: Nov 03, 2016.
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