polycythemia vera

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

Epidemiology

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.

Pathology

Markers

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

Diagnostic criteria

Major WHO criteria are as follows:

  • 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

  • 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)

  • Presence of JAK2V617F or JAK2 exon 12 mutation

  • The minor WHO criterion is as follows:

    • Serum erythropoietin level below the reference range for normal

    Radiographic features

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

    Complications

    Treatment and prognosis

    The overall prognosis can be variable with a wide natural course amongst individuals. Treatment options include venesection, myelosuppressive medications, interferon, and aspirin.

    Anagrelide is used when secondary thrombocythemia is an issue. Oral radiophosphorus (32-P) is now avoided in 'benign' myeloproliferative diseases due to the risk of inducing acute myeloid leukemia .

    See also

    Siehe auch:
    und weiter: