Causes of an erythrocytosis.
| Primary Erythrocytosis |
| Congenital |
| Erythropoietin (EPO) receptor mutations |
| Acquired |
| Polycythemia vera (including JAK2 exon 12 mutations) |
| Secondary erythrocytosis |
| Congenital |
| Defects of the oxygen sensing pathway |
| VHL gene mutation (Chuvash erythrocytosis) |
| PHD2 mutations |
| HIF-2α mutations |
| Other congenital defects |
| High oxygen-affinity hemoglobin |
| Bisphosphoglycerate mutase deficiency |
| Acquired |
| EPO-mediated |
| Central hypoxia |
| Chronic lung disease |
| Right-to-left cardiopulmonary vascular shunts |
| Carbon monoxide poisoning |
| Smoker’s erythrocytosis |
| Hypoventilation syndromes including obstructive sleep apnea |
| High-altitude |
| Local hypoxia |
| Renal artery stenosis |
| End-stage renal disease |
| Hydronephrosis |
| Renal cysts (polycystic kidney disease) |
| Post-renal transplant erythrocytosis |
| Pathologic EPO production |
| Tumors |
| Cerebellar hemangioblastoma |
| Meningioma |
| Parathyroid carcinoma/adenomas |
| Hepatocellular carcinoma |
| Renal cell cancer |
| Pheochromocytoma |
| Uterine leiomyomas |
| Drug associated |
| Erythropoietin administration |
| Androgen administration |
| Idiopathic erythrocytosis |
| Primary Erythrocytosis |
| Congenital |
| Erythropoietin (EPO) receptor mutations |
| Acquired |
| Polycythemia vera (including JAK2 exon 12 mutations) |
| Secondary erythrocytosis |
| Congenital |
| Defects of the oxygen sensing pathway |
| VHL gene mutation (Chuvash erythrocytosis) |
| PHD2 mutations |
| HIF-2α mutations |
| Other congenital defects |
| High oxygen-affinity hemoglobin |
| Bisphosphoglycerate mutase deficiency |
| Acquired |
| EPO-mediated |
| Central hypoxia |
| Chronic lung disease |
| Right-to-left cardiopulmonary vascular shunts |
| Carbon monoxide poisoning |
| Smoker’s erythrocytosis |
| Hypoventilation syndromes including obstructive sleep apnea |
| High-altitude |
| Local hypoxia |
| Renal artery stenosis |
| End-stage renal disease |
| Hydronephrosis |
| Renal cysts (polycystic kidney disease) |
| Post-renal transplant erythrocytosis |
| Pathologic EPO production |
| Tumors |
| Cerebellar hemangioblastoma |
| Meningioma |
| Parathyroid carcinoma/adenomas |
| Hepatocellular carcinoma |
| Renal cell cancer |
| Pheochromocytoma |
| Uterine leiomyomas |
| Drug associated |
| Erythropoietin administration |
| Androgen administration |
| Idiopathic erythrocytosis |