Chuvash-type polycythemia in pregnancy managed by repeated venisections and heparin therapy: a case report.

Background: Chuvash-type polycythemia is a rare blood disease associated with an increased tendency toward thrombosis and its resulting problems, which at times can be life threatening. The main goal of treatment is to prevent thrombosis and minimize the complications of therapy.

Case: A 20-year-old, Asian woman with her first pregnancy was admitted to the hospital at 16 weeks' gestation. Her initial blood work showed a hemoglobin level of 19 g/dL, hematocrit of 55% and erythropoietin level of 21.9 IU/L (laboratory reference range, 5-25). The results of a molecular analysis of the blood specimen confirmed the diagnosis of Chuvash-type polycythemia due to von Hippel-Lindau gene mutation. Weekly venisection until delivery was planned. Subsequently, the hemoglobin dropped to 15 g/dL and hematocrit to 44.6%. A 30-week scan demonstrated static growth below the third centile and oligohydramnios but normal Doppler findings. Prophylactic low-molecular-weight heparin was started. The next growth scan, at 32 weeks, showed an improvement in abdominal circumference. Three days later, fetal heart monitoring showed an abnormal pattern requiring an emergency cesarean section.

Conclusion: Early institution of heparin is beneficial in the management of Chuvash-type polycythemia in pregnancy as the condition is thrombogenic.