Protein C deficiency disease

Protein C deficiency is a rare congenital or acquired thrombophilic disorder of the hematologic and vascular systems caused by reduced levels or impaired function of the natural anticoagulant protein C Protein C deficiency is a rare congenital or acquired thrombophilic disorder of the hematologic and vascular systems caused by reduced levels or impaired function of the natural anticoagulant protein C. Because activated protein C normally cleaves and inactivates activated factors V and VIII, this...

Protein C deficiency is a rare congenital or acquired thrombophilic disorder of the hematologic and vascular systems caused by reduced levels or impaired function of the natural anticoagulant protein C. Because activated protein C normally cleaves and inactivates activated factors V and VIII, this deficiency leads to unregulated thrombin generation and a heightened propensity for abnormal clotting

Clinically, mild forms—frequently seen in heterozygous individuals—predominantly manifest in adulthood as recurrent venous thromboembolism, such as deep vein thrombosis and pulmonary embolism In contrast, severe forms in homozygous or compound heterozygous neonates present shortly after birth with life-threatening neonatal purpura fulminans characterized by microvascular thrombosis, widespread tissue necrosis, and disseminated intravascular coagulation

In contrast, severe forms in homozygous or compound heterozygous neonates present shortly after birth with life-threatening neonatal purpura fulminans characterized by microvascular thrombosis, widespread tissue necrosis, and disseminated intravascular coagulation