familial erythrocytosis type 2; VHL-dependent polycythemia; Chuvash type polycythemia

Pathology

• increase in red blood cell mass
• hypersensitivity of erythroid progenitors to erythropoietin

Genetics

• autosomal recessive
• associated with defects in VHL

Laboratory

• complete blood count (CBC)
  • increase in red blood cell mass
• increased serum erythropoietin levels
• arterial blood gas
  • normal oxygen affinity

Complications

• high risk for peripheral thrombosis & cerebrovascular events

More general terms

• familial erythrocytosis

Database

• OMIM: https://mirror.omim.org/entry/263400