Polycythemia causes: Difference between revisions
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'''Congenital''' | '''Congenital''' | ||
*Erythropoietin receptor-mediated | *Erythropoietin receptor-mediated | ||
*High oxygen affinity hemoglobin | *High oxygen affinity hemoglobin | ||
*Bisphosphoglycerate mutase deficiency | *Bisphosphoglycerate mutase deficiency | ||
*VHL(Von Hippel-Lindau) gene mutation (Chuvash erythrocytosis) | *VHL(Von Hippel-Lindau) gene mutation (Chuvash erythrocytosis) | ||
*PHD2 mutations | *PHD2 mutations | ||
*HIF-2 alpha mutations | *HIF-2 alpha mutations | ||
'''Acquired''' | |||
*Hypoxia driven | *Hypoxia driven | ||
**Central hypoxic process: | **Central hypoxic process: | ||
| Line 38: | Line 41: | ||
**Renal cysts (polycystic kidney disease) | **Renal cysts (polycystic kidney disease) | ||
**Postrenal transplant erythrocytosis | **Postrenal transplant erythrocytosis | ||
Pathologic EPO production: | Pathologic EPO production: | ||
*Tumors | *Tumors | ||
**Cerebellar hemangioblastoma | **Cerebellar hemangioblastoma | ||
| Line 47: | Line 52: | ||
**Pheochromocytoma | **Pheochromocytoma | ||
**Uterine leiomyomas | **Uterine leiomyomas | ||
Exogenous EPO: | Exogenous EPO: | ||
*Drug associated | *Drug associated | ||
**EPO administration | **EPO administration | ||
**Androgen administration | **Androgen administration | ||
Idiopathic erythrocytosis <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== | ||
Revision as of 21:39, 1 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
- Secondary erythrocytosis
Congenital
- Erythropoietin receptor-mediated
- High oxygen affinity hemoglobin
- Bisphosphoglycerate mutase deficiency
- VHL(Von Hippel-Lindau) gene mutation (Chuvash erythrocytosis)
- PHD2 mutations
- HIF-2 alpha mutations
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:
- 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 [1] [2]
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.
- ↑ 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.