Protein C or S Deficiency
Overview
Plain-Language Overview
Protein C or S Deficiency is a condition that affects the body's ability to control blood clotting. These proteins normally help prevent blood clots from forming too easily by regulating clotting factors. When there is a deficiency, the blood is more likely to form dangerous clots inside blood vessels, which can block blood flow. This mainly affects the circulatory system and can lead to problems like deep vein thrombosis or pulmonary embolism. People with this condition may experience symptoms related to these clots, such as swelling, pain, or shortness of breath. It is a genetic or acquired disorder that increases the risk of thrombosis. Early recognition is important to manage the risk of serious complications.
Clinical Definition
Protein C or S Deficiency is a hereditary or acquired thrombophilia characterized by reduced levels or function of the natural anticoagulants Protein C and Protein S. These vitamin K–dependent glycoproteins normally inactivate factors Va and VIIIa, thereby limiting clot formation. Deficiency leads to a hypercoagulable state with increased risk of venous thromboembolism, including deep vein thrombosis and pulmonary embolism. It can be inherited in an autosomal dominant pattern due to mutations in the PROC or PROS1 genes or acquired secondary to conditions like vitamin K deficiency, liver disease, or warfarin therapy. Clinically, patients often present with recurrent thrombotic events at a young age or unusual sites of thrombosis. The condition is significant because it predisposes to life-threatening clotting complications and may require lifelong anticoagulation.