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Aetiology

Authoring team

Erythrocytosis may occur secondary to:

  • congenital caus
    • high oxygen-affinity haemoglobin
    • erythropoeitin receptor mediated
    • Chuvash erythrocytosis (VHL gene mutation) (1)
  • acquired causes
    • hypoxia with decreased oxygen saturation:
      • decreased atmospheric oxygen e.g. high altitude
      • chronic heart disease:
        • congenital e.g. pulmonary stenosis, septal defect, patent ductus arteriosus
        • acquired e.g. chronic rheumatic mitral disease
      • arteriovenous fistula
    • impaired pulmonary ventilation:
      • alveolar-capillary block e.g. Hamman-Rich syndrome, sarcoidosis, lymphangitic cancer
      • alveolar hypoventilation e.g. bronchial asthma
      • restriction of pulmonary vascular bed e.g. primary pulmonary hypertension, mitral stenosis, emphysema
      • haemoglobins with abnormally high oxygen affinity
    • abnormal haemoglobin pigments e.g. methaemoglobinaemia
    • increased erythropoietin secretion:
      • renal disease:
        • hydronephrosis
        • renal cysts
        • benign tumours
        • occurs in up to 5% of renal cell carcinomas
        • 10-17% of kidney transplant recipients
      • other tumors - e.g. cerebellar haemangioblastoma, uterine fibromyomas
    • increased androgen:
      • phaeochromocytoma
      • Cushing's syndrome
      • masculinizing ovarian tumors e.g. arrhenoblastoma
      • androgen abuse by athletes

Reference:


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