Primary familial polycythemia
ORPHA:90042· ICD-10 D75.0
Definition
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- All ages