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Chuvash erythrocytosis

Disease definition

Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.


Classification level: Disorder
  • Synonym(s):
    • Chuvash polycythemia
    • Von Hippel-Lindau-dependent polycythemia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D75.1
  • OMIM: 263400
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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