Chuvash polycythemia
Chuvash polycythemia
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.
Also known as Chuvash polycythemia, erythrocytosis, familial, type 2, familial polycythemia caused by mutation in VHL, VHL familial polycythemia, Von Hippel-Lindau-dependent polycythemia — per MONDO