Primary erythrocytosis |
Increased sensitivity of erythroid progenitors to erythropoietin Polycythemia vera Primary familial congenital polycythemia Activating mutations of the erythropoietin receptor |
Rare; due to altered hypoxia sensing von Hippel-Lindau mutations, eg, homozygous R200W mutation (Chuvash polycythemia) EGLN1 mutations (proline hydroxylase domain protein 2) EPAS1 mutations (hypoxia-inducible factor 2 alpha) |
Secondary erythrocytosis |
Physiologically appropriate with increased erythropoietin High-altitude erythrocytosis Cardiac and pulmonary disease characterized by hypoxia Hypoventilation syndromes Chronic carbon monoxide poisoning Congenital methemoglobinemia Secondary familial congenital polycythemia HBA1, HBA2, HBB mutations (high-oxygen-affinity hemoglobin) Mutations of the BPGM (bisphosphoglycerate) gene |
Physiologically inappropriate with increased erythropoietin Androgen abuse Erythropoietin abuse Postrenal transplant erythrocytosis Ectopic secretion of erythropoietin by neoplasms such as renal cell carcinoma, hepatocellular carcinoma, hemangioblastoma, pheochromocytoma, uterine leiomyomata |