
Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Polycythemia causes
Introduction
Overview
Overview
Divided into primary and secondary causes based on underlying genetic mutations and other factors(refer to classification).
Causes
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:
References
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Â ; Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]
