A patient with anemia is diagnosed with a condition characterized by an overproduction of erythropoietin due to a genetic mutation. What is the most likely diagnosis?

A Polycythemia vera
B Primary myelofibrosis
C Chuvash polycythemia ✓
D Hereditary coproporphyria

Explanation

Chuvash polycythemia is a rare genetic disorder caused by a mutation in the von Hippel-Lindau (VHL) gene, leading to an increased production of erythropoietin and resulting in secondary erythrocytosis.

Source

New England Journal of Medicine
Hematology Hematology: Anemia Hematology: Anemia Medium MEDICAL Confidence: high