Polycythemia causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Polycythemia}} | {{Polycythemia}} | ||
{{CMG}} ; {{AE}} {{Debduti}} | |||
== | ==Overview== | ||
== | Divided into primary and secondary causes based on underlying [[genetic mutations]] and other factors(refer to classification). | ||
==Causes== | |||
===Common Causes=== | ===Common Causes=== | ||
Common causes of [[polycythemia]] may include: | |||
=== | *Primary [[erythrocytosis]]<ref name="pmid23606940">{{cite journal| author=McMullin MF| title=Diagnosis and management of congenital and idiopathic erythrocytosis. | journal=Ther Adv Hematol | year= 2012 | volume= 3 | issue= 6 | pages= 391-8 | pmid=23606940 | doi=10.1177/2040620712458947 | pmc=3627324 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23606940 }}</ref><ref name="pmid15916693">{{cite journal| author=Johansson PL, Safai-Kutti S, Kutti J| title=An elevated venous haemoglobin concentration cannot be used as a surrogate marker for absolute erythrocytosis: a study of patients with polycythaemia vera and apparent polycythaemia. | journal=Br J Haematol | year= 2005 | volume= 129 | issue= 5 | pages= 701-5 | pmid=15916693 | doi=10.1111/j.1365-2141.2005.05517.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15916693 }}</ref> | ||
[[Polycythemia vera]] | |||
*Secondary [[erythrocytosis]] | |||
* [[ | |||
'''Congenital''' | |||
{{ | *[[Erythropoietin receptor|Erythropoietin]] receptor-mediated | ||
* Disease C | *High [[oxygen]] affinity [[hemoglobin]]<ref name="pmid19734427">{{cite journal| author=Percy MJ, Butt NN, Crotty GM, Drummond MW, Harrison C, Jones GL | display-authors=etal| title=Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis. | journal=Haematologica | year= 2009 | volume= 94 | issue= 9 | pages= 1321-2 | pmid=19734427 | doi=10.3324/haematol.2009.008037 | pmc=2738729 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19734427 }}</ref> | ||
{{ | *[[Bisphosphoglycerate mutase|Bisphosphoglycerate]] mutase deficiency<ref name="pmid152321">{{cite journal| author=Rosa R, Prehu MO, Beuzard Y, Rosa J| title=The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes. | journal=J Clin Invest | year= 1978 | volume= 62 | issue= 5 | pages= 907-15 | pmid=152321 | doi=10.1172/JCI109218 | pmc=371847 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=152321 }}</ref> | ||
*[[VHL]]([[Von Hippel-Lindau Disease|Von Hippel-Lindau]]) [[gene mutation]] (Chuvash erythrocytosis)<ref name="pmid16673284">{{cite journal| author=Gordeuk VR, Prchal JT| title=Vascular complications in Chuvash polycythemia. | journal=Semin Thromb Hemost | year= 2006 | volume= 32 | issue= 3 | pages= 289-94 | pmid=16673284 | doi=10.1055/s-2006-939441 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16673284 }}</ref><ref name="pmid12415268">{{cite journal| author=Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y | display-authors=etal| title=Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. | journal=Nat Genet | year= 2002 | volume= 32 | issue= 4 | pages= 614-21 | pmid=12415268 | doi=10.1038/ng1019 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12415268 }}</ref><ref name="pmid14726398">{{cite journal| author=Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL | display-authors=etal| title=Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. | journal=Blood | year= 2004 | volume= 103 | issue= 10 | pages= 3924-32 | pmid=14726398 | doi=10.1182/blood-2003-07-2535 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14726398 }}</ref> | |||
*PHD2 [[Mutation|mutations]] | |||
*HIF-2 alpha [[Mutation|mutations]]<ref name="pmid21082936">{{cite journal| author=McMullin MF| title=HIF pathway mutations and erythrocytosis. | journal=Expert Rev Hematol | year= 2010 | volume= 3 | issue= 1 | pages= 93-101 | pmid=21082936 | doi=10.1586/ehm.09.68 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21082936 }}</ref><ref name="pmid18184961">{{cite journal| author=Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF | display-authors=etal| title=A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. | journal=N Engl J Med | year= 2008 | volume= 358 | issue= 2 | pages= 162-8 | pmid=18184961 | doi=10.1056/NEJMoa073123 | pmc=2295209 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18184961 }}</ref> | |||
'''Acquired''' | |||
*[[Hypoxia]] driven | |||
**Central [[hypoxic]] process: | |||
***Chronic [[Lung disease]] | |||
***Right-to-left [[cardiopulmonary]] vascular shunts | |||
***[[Carbon monoxide poisoning]] | |||
***Smoker's [[erythrocytosis]] | |||
***[[Hypoventilation]] syndromes including [[sleep apnea]] (high-altitude habitat) | |||
*Local renal [[hypoxia]]: | |||
**[[Renal artery stenosis|Renal Artery Stenosis]] | |||
**End-Stage Renal Disease | |||
**[[Hydronephrosis]] | |||
**[[Renal cyst|Renal cysts]] ([[polycystic kidney disease]]) | |||
**Postrenal transplant [[erythrocytosis]] | |||
Pathologic EPO production:<ref name="pmid21652677">{{cite journal| author=Jelkmann W, Lundby C| title=Blood doping and its detection. | journal=Blood | year= 2011 | volume= 118 | issue= 9 | pages= 2395-404 | pmid=21652677 | doi=10.1182/blood-2011-02-303271 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21652677 }}</ref> | |||
*[[Tumor|Tumors]] | |||
**[[Cerebellar]] [[hemangioblastoma]] | |||
**[[Meningioma]] | |||
**[[Parathyroid adenoma|Parathyroid]] [[carcinoma]]/[[Adenoma|adenomas]] | |||
**[[Hepatocellular carcinoma]] | |||
**[[Renal cell cancer]] | |||
**[[Pheochromocytoma]] | |||
**[[Uterine leiomyoma|Uterine leiomyomas]] | |||
Exogenous EPO: | |||
*[[Drug]] associated | |||
**EPO administration | |||
**[[Androgen]] administration<ref name="pmid10367800">{{cite journal| author=Dickerman RD, Pertusi R, Miller J, Zachariah NY| title=Androgen-induced erythrocytosis: is it erythropoietin? | journal=Am J Hematol | year= 1999 | volume= 61 | issue= 2 | pages= 154-5 | pmid=10367800 | doi=10.1002/(sici)1096-8652(199906)61:2<154::aid-ajh17>3.0.co;2-s | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10367800 }}</ref> | |||
[[Idiopathic]] [[erythrocytosis]] <ref name="pmid17454194">{{cite journal| author=Percy MJ| title=Genetically heterogeneous origins of idiopathic erythrocytosis. | journal=Hematology | year= 2007 | volume= 12 | issue= 2 | pages= 131-9 | pmid=17454194 | doi=10.1080/10245330601111979 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17454194 }}</ref><ref name="McMULLIN2008">{{cite journal|last1=McMULLIN|first1=M. F.|title=The classification and diagnosis of erythrocytosis|journal=International Journal of Laboratory Hematology|year=2008|issn=17515521|doi=10.1111/j.1751-553X.2008.01102.x}}</ref> <ref name="pmid967201">{{cite journal |vauthors=Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L |title=Polycythemia vera: stem-cell and probable clonal origin of the disease |journal=N Engl J Med |volume=295 |issue=17 |pages=913–6 |date=October 1976 |pmid=967201 |doi=10.1056/NEJM197610212951702 |url=}}</ref> | |||
==References== | ==References== | ||
{{reflist|2}} | |||
[[Category:Hematology]] | |||
[[Category: | [[Category:Emergency medicine]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Blood disorders]] | [[Category:Blood disorders]] | ||
[[Category: | [[Category:Up-To-Date]] | ||
{{WS}} | |||
{{WH}} | |||
Latest revision as of 05:14, 2 March 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
Overview
Divided into primary and secondary causes based on underlying genetic mutations and other factors(refer to classification).
Causes
Common Causes
Common causes of polycythemia may include:
- Primary erythrocytosis[1][2]
- Secondary erythrocytosis
Congenital
- Erythropoietin receptor-mediated
- High oxygen affinity hemoglobin[3]
- Bisphosphoglycerate mutase deficiency[4]
- VHL(Von Hippel-Lindau) gene mutation (Chuvash erythrocytosis)[5][6][7]
- PHD2 mutations
- HIF-2 alpha mutations[8][9]
Acquired
- Hypoxia driven
- Central hypoxic process:
- Chronic Lung disease
- Right-to-left cardiopulmonary vascular shunts
- Carbon monoxide poisoning
- Smoker's erythrocytosis
- Hypoventilation syndromes including sleep apnea (high-altitude habitat)
- Central hypoxic process:
- Local renal hypoxia:
- Renal Artery Stenosis
- End-Stage Renal Disease
- Hydronephrosis
- Renal cysts (polycystic kidney disease)
- Postrenal transplant erythrocytosis
Pathologic EPO production:[10]
Exogenous EPO:
Idiopathic erythrocytosis [12][13] [14]
References
- ↑ McMullin MF (2012). "Diagnosis and management of congenital and idiopathic erythrocytosis". Ther Adv Hematol. 3 (6): 391–8. doi:10.1177/2040620712458947. PMC 3627324. PMID 23606940.
- ↑ Johansson PL, Safai-Kutti S, Kutti J (2005). "An elevated venous haemoglobin concentration cannot be used as a surrogate marker for absolute erythrocytosis: a study of patients with polycythaemia vera and apparent polycythaemia". Br J Haematol. 129 (5): 701–5. doi:10.1111/j.1365-2141.2005.05517.x. PMID 15916693.
- ↑ Percy MJ, Butt NN, Crotty GM, Drummond MW, Harrison C, Jones GL; et al. (2009). "Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis". Haematologica. 94 (9): 1321–2. doi:10.3324/haematol.2009.008037. PMC 2738729. PMID 19734427.
- ↑ Rosa R, Prehu MO, Beuzard Y, Rosa J (1978). "The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes". J Clin Invest. 62 (5): 907–15. doi:10.1172/JCI109218. PMC 371847. PMID 152321.
- ↑ Gordeuk VR, Prchal JT (2006). "Vascular complications in Chuvash polycythemia". Semin Thromb Hemost. 32 (3): 289–94. doi:10.1055/s-2006-939441. PMID 16673284.
- ↑ Ang SO, Chen H, Hirota K, Gordeuk VR, Jelinek J, Guan Y; et al. (2002). "Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia". Nat Genet. 32 (4): 614–21. doi:10.1038/ng1019. PMID 12415268.
- ↑ Gordeuk VR, Sergueeva AI, Miasnikova GY, Okhotin D, Voloshin Y, Choyke PL; et al. (2004). "Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors". Blood. 103 (10): 3924–32. doi:10.1182/blood-2003-07-2535. PMID 14726398.
- ↑ McMullin MF (2010). "HIF pathway mutations and erythrocytosis". Expert Rev Hematol. 3 (1): 93–101. doi:10.1586/ehm.09.68. PMID 21082936.
- ↑ Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF; et al. (2008). "A gain-of-function mutation in the HIF2A gene in familial erythrocytosis". N Engl J Med. 358 (2): 162–8. doi:10.1056/NEJMoa073123. PMC 2295209. PMID 18184961.
- ↑ Jelkmann W, Lundby C (2011). "Blood doping and its detection". Blood. 118 (9): 2395–404. doi:10.1182/blood-2011-02-303271. PMID 21652677.
- ↑ Dickerman RD, Pertusi R, Miller J, Zachariah NY (1999). "Androgen-induced erythrocytosis: is it erythropoietin?". Am J Hematol. 61 (2): 154–5. doi:10.1002/(sici)1096-8652(199906)61:2<154::aid-ajh17>3.0.co;2-s. PMID 10367800.
- ↑ Percy MJ (2007). "Genetically heterogeneous origins of idiopathic erythrocytosis". Hematology. 12 (2): 131–9. doi:10.1080/10245330601111979. PMID 17454194.
- ↑ McMULLIN, M. F. (2008). "The classification and diagnosis of erythrocytosis". International Journal of Laboratory Hematology. doi:10.1111/j.1751-553X.2008.01102.x. ISSN 1751-5521.
- ↑ Adamson JW, Fialkow PJ, Murphy S, Prchal JF, Steinmann L (October 1976). "Polycythemia vera: stem-cell and probable clonal origin of the disease". N Engl J Med. 295 (17): 913–6. doi:10.1056/NEJM197610212951702. PMID 967201.