/Chuvash polycythemia

Chuvash polycythemia

Rare Disease

MONDO:0009892

Also Known As

Chuvash erythromatosisChuvash polycythemiaChuvash type polycythemiaVHL familial polycythemiaVon Hippel-Lindau-dependent polycythemiaautosomal recessive benign erythrocytosiserythrocytosis, familial, type 2familial erythrocytosis 2familial polycythemia caused by mutation in VHLChuvash erythrocytosisECYT2erythrocytosis, autosomal recessive benignerythrocytosis, familial, 2polycythemia, Chuvash typepolycythemia, VHL-dependent

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.