Polycythemia vera pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
In primary polycythemia, there may be 8 to 9 million and occasionally 11 million erythrocytes per cubic millimeter of blood (a normal range for adults is 4-6), and the [[hematocrit]] may be as high as 70 to 80%. In addition, the total blood volume sometimes increases to as much as twice normal. The entire vascular system can become markedly engorged with blood, and circulation times for blood throughout the body can increase up to twice the normal value. The increased numbers of [[erythrocyte]]s can cause the [[viscosity]] of the blood to increase as much as five times normal. Capillaries can become plugged by the very viscous blood, and the flow of blood through the vessels tends to be extremely sluggish.<ref name="pmid16827884">{{cite journal |author=Thurmes PJ, Steensma DP |title=Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis |journal=Eur. J. Haematol. |volume=77 |issue=1 |pages=57–60 |date=July 2006 |pmid=16827884 |doi=10.1111/j.1600-0609.2006.00667.x |url=http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0902-4441&date=2006&volume=77&issue=1&spage=57}}</ref> | In primary polycythemia, there may be 8 to 9 million and occasionally 11 million erythrocytes per cubic millimeter of blood (a normal range for adults is 4-6), and the [[hematocrit]] may be as high as 70 to 80%. In addition, the total blood volume sometimes increases to as much as twice normal. The entire vascular system can become markedly engorged with blood, and circulation times for blood throughout the body can increase up to twice the normal value. The increased numbers of [[erythrocyte]]s can cause the [[viscosity]] of the blood to increase as much as five times normal. Capillaries can become plugged by the very viscous blood, and the flow of blood through the vessels tends to be extremely sluggish.<ref name="pmid16827884">{{cite journal |author=Thurmes PJ, Steensma DP |title=Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis |journal=Eur. J. Haematol. |volume=77 |issue=1 |pages=57–60 |date=July 2006 |pmid=16827884 |doi=10.1111/j.1600-0609.2006.00667.x |url=http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0902-4441&date=2006&volume=77&issue=1&spage=57}}</ref> | ||
==Genetics== | |||
Recently, in 2005, a mutation in the [[JAK2]] kinase (V617F) was found by multiple research groups <ref>{{cite journal | author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR | title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders | journal=Lancet | year=2005 | pages=1054-61 | volume=365 | issue=9464 | id=PMID 15781101}}</ref><ref>{{cite journal | author=Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG | title=Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis | journal=Cancer Cell | year=2005 | pages=387-97 | volume=7 | issue=4 | id=PMID 15837627}}</ref> to be strongly associated with polycythemia vera. ''JAK2'' is a member of the [[Janus kinase]] family. This mutation may be helpful in making a diagnosis or as a target for future therapy. | Recently, in 2005, a mutation in the [[JAK2]] kinase (V617F) was found by multiple research groups <ref>{{cite journal | author=Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR | title=Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders | journal=Lancet | year=2005 | pages=1054-61 | volume=365 | issue=9464 | id=PMID 15781101}}</ref><ref>{{cite journal | author=Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG | title=Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis | journal=Cancer Cell | year=2005 | pages=387-97 | volume=7 | issue=4 | id=PMID 15837627}}</ref> to be strongly associated with polycythemia vera. ''JAK2'' is a member of the [[Janus kinase]] family. This mutation may be helpful in making a diagnosis or as a target for future therapy. | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]
Overview
Polycythemia vera arises from hematopoietic stem cells, which give rise to erythrocytes cells that are normally involved in delivering oxygen to the body tissue. [1]
Pathophysiology
In primary polycythemia, there may be 8 to 9 million and occasionally 11 million erythrocytes per cubic millimeter of blood (a normal range for adults is 4-6), and the hematocrit may be as high as 70 to 80%. In addition, the total blood volume sometimes increases to as much as twice normal. The entire vascular system can become markedly engorged with blood, and circulation times for blood throughout the body can increase up to twice the normal value. The increased numbers of erythrocytes can cause the viscosity of the blood to increase as much as five times normal. Capillaries can become plugged by the very viscous blood, and the flow of blood through the vessels tends to be extremely sluggish.[2]
Genetics
Recently, in 2005, a mutation in the JAK2 kinase (V617F) was found by multiple research groups [3][4] to be strongly associated with polycythemia vera. JAK2 is a member of the Janus kinase family. This mutation may be helpful in making a diagnosis or as a target for future therapy.
References
- ↑ A. Schmoldt, H. F. Benthe & G. Haberland (1975). "Digitoxin metabolism by rat liver microsomes". Biochemical pharmacology. 24 (17): 1639–1641. PMID 10. Unknown parameter
|month=ignored (help) - ↑ Thurmes PJ, Steensma DP (July 2006). "Elevated serum erythropoietin levels in patients with Budd-Chiari syndrome secondary to polycythemia vera: clinical implications for the role of JAK2 mutation analysis". Eur. J. Haematol. 77 (1): 57–60. doi:10.1111/j.1600-0609.2006.00667.x. PMID 16827884.
- ↑ Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR (2005). "Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders". Lancet. 365 (9464): 1054–61. PMID 15781101.
- ↑ Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Frohling S, Dohner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG (2005). "Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis". Cancer Cell. 7 (4): 387–97. PMID 15837627.