Polycythemia vera

Last revised by Joshua Yap on 18 Feb 2023

Polycythemia vera (older term: polycythemia rubra vera) is a myeloproliferative neoplasm that results in an excess of red blood cells in the bloodstream.

The estimated prevalence is around 2-3 per 10,000 people. It typically presents in older individuals. There may be a slightly greater male predilection.

Major WHO criteria are as follows:

  1. hemoglobin >16.5 g/dL in men and >16 g/dL in women, or hematocrit >49% in men and >48% in women, or red cell mass >25% above mean normal predicted value

  2. 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)

  3. presence of JAK2V617F or JAK2 exon 12 mutation

The minor WHO criterion is:

  • serum erythropoietin level below the reference range for normal

Polycythemia vera has a varied presentation, with the most serious features being those of venous and arterial thrombosis, as well as transformation into acute myeloid leukemia.

Features include:

JAK2 mutations (particularly the V617F mutation) can be found in more than 95% of people with polycythemia vera. 

Radiographic manifestations are varied and non-specific and can affect a number of systems, including:

The overall prognosis can be variable with a wide natural course among individuals. Treatment options include venesection, aspirin, or cytoreductive therapy. If refractory, advanced therapy (e.g. ruxolitinib, anagrelide, etc.) can be used. Oral radiophosphorus (32-P) is now avoided in "benign" myeloproliferative diseases due to the risk of inducing acute myeloid leukemia 5.

Other causes of polycythemia (i.e. secondary polycythemia) such as chronic obstructive pulmonary disease may have a similar biochemical presentation but will generally have a very different clinical presentation.

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Cases and figures

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