Polycythemia classification
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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
Mainly classified into primary and secondary causes based on the presence or absence of genetic mutations and underlying disorders.
Classification
Once the diagnosis of absolute erythrocytosis has been established, red cell mass (RCM > 125% of predicted), classification can be done accordingly:[1][2][3][4]
- Primary erythrocytosis[5][6]
- Secondary erythrocytosis[7]
- Erythropoietin receptor-mediated - High oxygen affinity hemoglobin - Bisphosphoglycerate mutase deficiency - VHL (Von Hippel-Lindau) gene mutation (Chuvash erythrocytosis) - PHD2 (prolyl hydroxylase domain) mutations - HIF-2 alpha mutations
- 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 - End Stage Renal Disease - Hydronephrosis - Renal cysts (polycystic kidney disease) - Postrenal transplant erythrocytosis - Pathologic EPO production: - Tumors - Cerebellar hemangioblastoma - Meningioma - Parathyroid carcinoma/adenomas - Hepatocellular carcinoma - Renal cell cancer - Pheochromocytoma - Uterine leiomyomas - Exogenous EPO: - Drug associated - EPO administration - Androgen administration
Idiopathic erythrocytosis [8][9][10]
References
- ↑ 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.
- ↑ Pearson TC (1998). "Diagnosis and classification of erythrocytoses and thrombocytoses". Baillieres Clin Haematol. 11 (4): 695–720. doi:10.1016/s0950-3536(98)80035-8. PMID 10640213.
- ↑ Golde DW, Hocking WG, Koeffler HP, Adamson JW (1981). "Polycythemia: mechanisms and management". Ann Intern Med. 95 (1): 71–87. doi:10.7326/0003-4819-95-1-71. PMID 7018337.
- ↑ Erslev, A. J.; Caro, J. (2009). "Pathophysiology and Classification of Polycythaemia". Scandinavian Journal of Haematology. 31 (4): 287–292. doi:10.1111/j.1600-0609.1983.tb00655.x. ISSN 0036-553X.
- ↑ Messinezy M, Pearson TC (1999). "The classification and diagnostic criteria of the erythrocytoses (polycythaemias)". Clin Lab Haematol. 21 (5): 309–16. doi:10.1046/j.1365-2257.1999.00246.x. PMID 10646073.
- ↑ McMullin MF (2008). "The classification and diagnosis of erythrocytosis". Int J Lab Hematol. 30 (6): 447–59. doi:10.1111/j.1751-553X.2008.01102.x. PMID 18823397.
- ↑ Prchal JT (2003). "Classification and molecular biology of polycythemias (erythrocytoses) and thrombocytosis". Hematol Oncol Clin North Am. 17 (5): 1151–8, vi. doi:10.1016/s0889-8588(03)00090-x. PMID 14560779.
- ↑ 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.
- ↑ McMullin MF (2009). "Idiopathic erythrocytosis: a disappearing entity". Hematology Am Soc Hematol Educ Program: 629–35. doi:10.1182/asheducation-2009.1.629. PMID 20008248.
- ↑ Pearson TC, Messinezy M (2001). "Idiopathic erythrocytosis, diagnosis and clinical management". Pathol Biol (Paris). 49 (2): 170–7. doi:10.1016/s0369-8114(00)00025-0. PMID 11317965.