Polycythemia causes
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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
- Bisphosphoglycerate mutase deficiency
- VHL(Von Hippel-Lindau) gene mutation (Chuvash erythrocytosis)[3]
- PHD2 mutations
- HIF-2 alpha mutations[4]
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:
Exogenous EPO:
Idiopathic erythrocytosis [5][6] [7]
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.
- ↑ 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.
- ↑ 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 (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.