Chuvash polycythemia

MONDO:0009892

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, VHL familial polycythemia, Von Hippel-Lindau-dependent polycythemia, erythrocytosis, familial, type 2, familial polycythemia caused by mutation in VHL, Chuvash erythrocytosis, ECYT2, erythrocytosis, autosomal recessive benign

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