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{{CMG}}
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{{CMG}} {{AE}} {{MJK}}; {{shyam}} {{IO}}
{{Polycythemia vera}}
{{Polycythemia vera}}
==Overview==
==Overview==
'''Primary [[polycythemia]]''', often called '''[[polycythemia vera]]''' (PCV), polycythemia rubra vera (PRV), or erythremia, occurs when excess red blood cells are produced as a result of an abnormality of the [[bone marrow]]. Often, excess [[white blood cell]]s and [[platelet]]s are also produced. Polycythemia vera is classified as a [[myeloproliferative disease]].
Laboratory findings associated with the diagnosis of polycythemia vera include [[erythrocytosis]], [[leukocytosis]], and [[thrombocytosis]]. The most sensitive test for polycythemia vera is JAK2 V617F mutation testing in the peripheral blood. A specific finding in patients with polycythemia vera is low [[erythropoietin]] level.
==Lab tests==
Patients with polycythemia vera may often be [[asymptomatic]]. Physical exam findings are non-specific, but may include [[hepatosplenomegaly|enlarged liver or spleen]], [[plethora]], or [[tophus|gouty nodules]]. The diagnosis is often suspected on the basis of laboratory tests. Common findings include an elevated hemoglobin level or [[hematocrit]], reflecting the increased number of red blood cells; the [[platelet count]] or [[white blood cell count]] may also be increased. Because polycythemia vera results from an essential increase in erythrocyte production, patients have a low  erythropoietin (EPO) level.


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.
==Laboratory Findings==
 
Laboratory findings associated with polycythemia vera include:<ref name="pmid17178662">{{cite journal| author=Mazzotta S, Guerranti R, Gozzetti A, Bucalossi A, Bocchia M, Sammassimo S et al.| title=Increased serum lactate dehydrogenase isoenzymes in Ph-negative chronic myeloproliferative diseases: a metabolic adaptation? | journal=Hematology | year= 2006 | volume= 11 | issue= 4 | pages= 239-44 | pmid=17178662 | doi=10.1080/10245330600774835 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17178662  }} </ref><ref name="pmid5947579">{{cite journal| author=Denman M, Szur L, Ansell BM| title=Hyperuricaemia in polycythaemia vera. | journal=Ann Rheum Dis | year= 1966 | volume= 25 | issue= 4 | pages= 340-4 | pmid=5947579 | doi= | pmc=PMC2453349 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=5947579  }} </ref><ref name="pmid23606974">{{cite journal| author=Murakami J, Shimizu Y| title=Hepatic manifestations in hematological disorders. | journal=Int J Hepatol | year= 2013 | volume= 2013 | issue=  | pages= 484903 | pmid=23606974 | doi=10.1155/2013/484903 | pmc=PMC3626309 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23606974  }} </ref><ref name="pmid9299851">{{cite journal| author=Remacha AF, Montserrat I, Santamaria A, Oliver A, Barceló MJ, Parellada M| title=Serum erythropoietin in the diagnosis of polycythemia vera. A follow-up study. | journal=Haematologica | year= 1997 | volume= 82 | issue= 4 | pages= 406-10 | pmid=9299851 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9299851  }} </ref><ref name="pmid26324368">{{cite journal |vauthors=Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK, Abboud CN, Adler K, Heaney ML, Jabbour EJ, Komrokji RS, Moliterno AR, Ritchie EK, Rice L, Mascarenhas J, Hoffman R |title=Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F |journal=J. Clin. Oncol. |volume=33 |issue=33 |pages=3953–60 |date=November 2015 |pmid=26324368 |pmc=4979103 |doi=10.1200/JCO.2015.61.6474 |url=}}</ref><ref name="pmid27069254">{{cite journal| author=Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM et al.| title=The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. | journal=Blood | year= 2016 | volume= 127 | issue= 20 | pages= 2391-405 | pmid=27069254 | doi=10.1182/blood-2016-03-643544 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27069254  }} </ref>
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.
*[[Complete blood count]]
 
:*[[Erythrocytosis]]
As a consequence of the above, people with untreated PV are at a risk of various [[thrombosis|thrombotic]] events ([[deep venous thrombosis]], [[pulmonary embolism]]), [[myocardial infarction|heart attack]] and [[stroke]], and have a substantial risk of [[Budd-Chiari syndrome]] (hepatic vein thrombosis), or [[Myelofibrosis]]. The condition is considered chronic; no cure exists. Symptomatic treatment (see below) can normalize the blood count and most patients can live a normal life for years.
:*Increased [[hemoglobin]]
:*[[Thrombocytosis]]
:*[[Leukocytosis]]
:*Increased [[basophil]]s and [[eosinophils]]
*The following blood levels may be elevated in blood chemistry (non specific):
:*Blood urea nitrogen ([[BUN]])
:*[[Creatinine]]
:*[[Phosphate]]
:*[[Lactate dehydrogenase]] (LDH)
:*[[Alanine aminotransferase]] (ALT)
:*[[Aspartate transaminase]] (AST)
:*[[Uric acid]]
*Peripheral blood mutational testing
:*[[JAK2]] V617F mutation or [[Janus kinase|JAK2]] exon 12 mutation
*Bleeding and clotting factor
:*[[Prothrombin time|Elevation of prothrombin time]] (PT) or [[international normalized ratio]] (INR)
:*[[Partial thromboplastin time|Elevation of partial thromboplastin time]] (PTT)
*[[Erythropoietin]] (EPO)
:*It is usually low in polycythemia vera but can be normal in about 20% of patients.  
:*It is usually high in secondary polycythemia vera.
*[[Bone marrow biopsy]]
:*Elevation of [[white blood cells]], [[red blood cells]], and [[platelets]]


==References==
==References==
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Latest revision as of 03:11, 14 September 2019


Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3] Ifeoma Odukwe, M.D. [4]

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Overview

Laboratory findings associated with the diagnosis of polycythemia vera include erythrocytosis, leukocytosis, and thrombocytosis. The most sensitive test for polycythemia vera is JAK2 V617F mutation testing in the peripheral blood. A specific finding in patients with polycythemia vera is low erythropoietin level.

Laboratory Findings

Laboratory findings associated with polycythemia vera include:[1][2][3][4][5][6]

  • The following blood levels may be elevated in blood chemistry (non specific):
  • Peripheral blood mutational testing
  • JAK2 V617F mutation or JAK2 exon 12 mutation
  • Bleeding and clotting factor
  • It is usually low in polycythemia vera but can be normal in about 20% of patients.
  • It is usually high in secondary polycythemia vera.

References

  1. ↑ Mazzotta S, Guerranti R, Gozzetti A, Bucalossi A, Bocchia M, Sammassimo S; et al. (2006). "Increased serum lactate dehydrogenase isoenzymes in Ph-negative chronic myeloproliferative diseases: a metabolic adaptation?". Hematology. 11 (4): 239–44. doi:10.1080/10245330600774835. PMID 17178662.
  2. ↑ Denman M, Szur L, Ansell BM (1966). "Hyperuricaemia in polycythaemia vera". Ann Rheum Dis. 25 (4): 340–4. PMC 2453349. PMID 5947579.
  3. ↑ Murakami J, Shimizu Y (2013). "Hepatic manifestations in hematological disorders". Int J Hepatol. 2013: 484903. doi:10.1155/2013/484903. PMC 3626309. PMID 23606974.
  4. ↑ Remacha AF, Montserrat I, Santamaria A, Oliver A, Barceló MJ, Parellada M (1997). "Serum erythropoietin in the diagnosis of polycythemia vera. A follow-up study". Haematologica. 82 (4): 406–10. PMID 9299851.
  5. ↑ Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK, Abboud CN, Adler K, Heaney ML, Jabbour EJ, Komrokji RS, Moliterno AR, Ritchie EK, Rice L, Mascarenhas J, Hoffman R (November 2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F". J. Clin. Oncol. 33 (33): 3953–60. doi:10.1200/JCO.2015.61.6474. PMC 4979103. PMID 26324368.
  6. ↑ Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM; et al. (2016). "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia". Blood. 127 (20): 2391–405. doi:10.1182/blood-2016-03-643544. PMID 27069254.

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