Polycythemia vera

Polycythemia vera
Other namesPolycythaemia vera (PV, PCV), erythremia, primary polycythemia, Vaquez disease, Osler-Vaquez disease, polycythemia rubra vera[1]
Blood smear from a patient with polycythemia vera
SpecialtyOncology, hematology
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In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells.[1] The majority of cases[2] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.[3]

Most of the health concerns associated with polycythemia vera are caused by the blood being thicker as a result of the increased red blood cells. It is more common in the elderly and may be symptomatic or asymptomatic. Common signs and symptoms include itching (pruritus), and severe burning pain in the hands or feet that is usually accompanied by a reddish or bluish coloration of the skin. Patients with polycythemia vera are more likely to have gouty arthritis. Treatment consists primarily of phlebotomy as well as oral chemotherapy and emerging treatments like long-acting interferon formulations.

  1. ^ a b "polycythemia vera." at Encyclopædia Britannica. 2010. Encyclopædia Britannica Online. 21 Sep. 2010
  2. ^ Tefferi A, Lasho TL, Guglielmelli P, Finke CM, Rotunno G, Elala Y, et al. (2016). "Targeted deep sequencing in polycythemia vera and essential thrombocytopenia". Blood Advances. 1 (1): 21–30. doi:10.1182/bloodadvances.2016000216. PMC 5744051. PMID 29296692.
  3. ^ Regimbeau M, Mary R, Hermetet F, Girodon F (2022). "Genetic Background of Polycythemia Vera". Genes. 13 (4). doi:10.3390/genes13040637. PMC 9027017. PMID 35456443. Art. No. 637.