Hereditary Protein-C Deficiency

Hereditary protein-C deficiency is an autosomal-dominant thrombophilia caused by deficiency of protein C, a vitamin-K-dependent natural anticoagulant that inactivates factors Va and VIIIa. Deficiency impairs this anticoagulant pathway and increases venous-thrombosis risk (deep-vein thrombosis, pulmonary embolism); neonatal severe deficiency causes purpura fulminans.

Common Symptoms

Deep-vein thrombosis; pulmonary embolism; recurrent thrombophlebitis

Causes and Pathogenesis

Mutations in the PROC gene cause quantitative/qualitative protein-C deficiency, reducing inactivation of Va/VIIIa and predisposing to thrombosis.

Treatment

Anticoagulation; protein-C concentrate in severe cases; lifelong anticoagulation after thrombosis

Preventive Measures

Anticoagulant prophylaxis during high-risk periods (pregnancy, surgery, immobilization); genetic counseling.

Department to Visit

It is recommended to visit the Hematology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.