Polycythemia causes
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.
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