Novel prenatal diagnosis of protein C deficiency and primary prophylaxis with protein C concentrate.
Protein C deficiency (PCD) is a rare inherited thrombophilia with high morbidity and mortality. Protein C plays an important role in the coagulation cascade by inactivating factors V and VIII, which then decreases thrombin production. In the absence of protein C, these pro-coagulant factors proceed unchecked, causing a hypercoagulable state. PCD may manifest with early and severe clinical complications, including purpura fulminans, disseminated intravascular coagulation, vitreal vein thrombosis resulting in blindness, and arterial ischemic stroke.
Prosser A, Amos L, Sharma M. Novel prenatal diagnosis of protein C deficiency and primary prophylaxis with protein C concentrate. Thromb Res. 2021;208:145-147. doi:10.1016/j.thromres.2021.10.011