Polycythemia vera
| Polycythemia vera | |
|---|---|
| Other names | Polycythaemia vera (PV, PCV), erythremia, primary polycythemia, Vaquez disease, Osler-Vaquez disease, polycythemia rubra vera[1] |
| Blood smear from a patient with polycythemia vera | |
| Specialty | Oncology, hematology |
In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells.[1] Approximately 98%[2][3] of PV patients have a JAK2 gene mutation in their blood-forming cells[4][5] (compared with 0.1-0.2% of the general population).[6][7]
Most of the health concerns associated with PV, such as thrombosis, are caused by the blood being thicker as a result of the increased red blood cells.
PV may be symptomatic or asymptomatic. Possible symptoms include fatigue, itching (pruritus), particularly after exposure to warm water, and severe burning pain in the hands or feet that is usually accompanied by a reddish or bluish coloration of the skin.
Treatment consists primarily of blood withdrawals (phlebotomy) and oral meds.
PV is more common in the elderly.
- ^ a b "polycythemia vera." at Encyclopædia Britannica. 2010. Encyclopædia Britannica Online. 21 Sep. 2010
- ^ Regimbeau, M.; Mary, R.; Hermetet, F.; Girodon, F. (2022). "Genetic Background of Polycythemia Vera". Genes. 13 (4): 637. doi:10.3390/genes13040637. PMC 9027017. PMID 35456443.
- ^ "Polycythemia Vera (PV) – MPN Research Foundation".
- ^ 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.
- ^ Most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.Regimbeau M, Mary R, Hermetet F, Girodon F (2022). "Genetic Background of Polycythemia Vera". Genes. 13 (4) 637: 637. doi:10.3390/genes13040637. PMC 9027017. PMID 35456443.
- ^ Nielsen, C.; Bojesen, S. E.; Nordestgaard, B. G.; Kofoed, K. F.; Birgens, H. S. (2014). "JAK2V617F somatic mutation in the general population: Myeloproliferative neoplasm development and progression rate". Haematologica. 99 (9): 1448–1455. doi:10.3324/haematol.2014.107631. PMC 4562533. PMID 24907356.
- ^ Nielsen, C.; Birgens, H. S.; Nordestgaard, B. G.; Kjær, L.; Bojesen, S. E. (2010). "The JAK2 V617F somatic mutation, mortality and cancer risk in the general population". Haematologica. 96 (3): 450–453. doi:10.3324/haematol.2010.033191. PMC 3046277. PMID 21160067.