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Autosomal recessive secondary polycythemia not associated with VHL gene

ORPHA:247378· ICD-10 D75.1

Definition

A rare, hereditary, hematologic disease characterized by an increase in hemoglobin, hematocrit and erythrocyte mass resulting in plethora or ruddy complexion, headache, dizziness, tinnitus and exertional dyspnea. In some cases, thrombophlebitis and arthralgia have also been reported.

Prevalence
Unknown
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal