Oct

9

2021

What are causes of erythrocytosis?

By William Aird

Primary

  • Congenital (erythropoietin receptor mutations)
  • Polycythemia vera
  • Idiopathic erythrocytosis

Secondary

  • Congenital
    • Defects in oxygen sensing pathway – Chuvash erythrocytosis (VHL mutation)
    • Left shift of hemoglobin (Hb) oxygen dissociation curve:
      • High affinity Hb
      • 2,3-DPG deficiency
  • Acquired
    • Hypoxia-driven:
      • Central process:
        • Chronic lung disease
        • Right-to-left cardiopulmonary shunts
        • Carbon monoxide poisoning
        • Smoking
        • Sleep apnea
        • High altitude
      • Local process:
        • Renal artery stenosis
        • Hydronephrosis
        • Renal cysts
    • Pathological erythropoietin production:
      • Tumors:
        • Hepatocellular carcinoma
        • Renal cell cancer
        • Cerebellar hemangioblastoma
        • Uterine leiomyoma
        • Pheochromocytoma
        • Meningioma
    • Drug-associated:
      • Erythropoietin
      • Androgens
      • Diuretics
Epo, erythropoietin; ODC, oxygen dissociation curve; R-L shunts, right-to-left shunts; CO, carbon monoxide; P. vera, polycythemia vera.

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