| Relative polycythemia |
| Volume contraction (eg, diuretics, vomiting, diarrhea, smoking,) |
| Absolute polycythemia |
| Primary polycythemia |
Inherited (germline mutations; polyclonal) - Primary familial and congenital polycythemia (eg, EPOR mutation)
- Chuvash polycythemia/VHL mutation, some features of primary but more features of secondary erythrocytosis
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Acquired (somatic mutations; clonal) - Polycythemia vera (JAK2 mutations)
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| Secondary polycythemia (elevated or inappropriately normal serum erythropoietin [EPO]) |
Inherited (germline mutations) - VHL – Chuvash polycythemia also has some features of primary erythrocytosis/and some other VHL mutations
- EGLN1 – Loss-of-function mutations of EGLN1 (encoding proline hydroxylase 2 [PHD2])
- EPAS1 – Gain-of-function mutations of EPAS1 (encoding HIF-2 alpha)
- Cytochrome b5 reductase congenital methemoglobinemia
- BPGM – Bisphosphoglyceromutase loss-of-function mutations
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| Congenital methemoglobinemias B5R (cytochrome b5 reductase) mutations and globin mutations leading to high hemoglobin oxygen affinity mutations (refer to chapter on methemoglobinemia) |
| Acquired (appropriate and inappropriate) |
Hypoxia - Pulmonary disease; Associated with arterial oxygen desaturation cyanosis and clubbing
- Alveolar hypoventilation; Central form may be a result of cerebral vascular accident, Parkinsonism, encephalitis. Peripheral form may be a result of myotonic dystrophy, poliomyelitis, spondylitis, or severe obesity.
- Sleep apnea; Only <5% of subjects develops erythrocytosis, and those tend also to be hypoxic during day or take androgens
- Cardiovascular (Eisenmenger syndrome)
- High-altitude acclimatization
- Renal causes
- Following renal transplantation
- Others (eg, renal artery stenosis, cysts, hydronephrosis)
- Endocrine disorders; Pheochromocytoma, aldosterone-producing adenomas, Bartter syndrome
- Cerebellar hemangiomas (about 15% of patients have erythrocytosis) and other tumors (uterine myoma and hepatoma)
- Neonatal erythrocytosis
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Autonomous EPO production - EPO-producing tumors (eg, hepatocellular carcinoma, renal cell carcinoma, hemangioblastoma, pheochromocytoma, uterine leiomyomata)
- TEMPI syndrome. Patients with erythrocytosis, elevated EPO and monoclonal gammopathy have been described as TEMPI syndrome. It consists of (1) telangiectasias; (2) elevated EPO and erythrocytosis; (3) monoclonal gammopathy; (4) perinephric fluid collections; and (5) intrapulmonary shunting.
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| Other causes |
| Athletic performance enhancing agents (eg, recombinant erythropoiesis stimulating agents, autologous transplantation ["blood doping"], androgens or anabolic steroids) |
| Cobalt toxicity |
