| 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. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the VHL gene on chromosome 3p25. |
