Protein C Deficiency
Protein C Deficiency is a genetic condition that affects the blood's ability to clot properly. Individuals with this deficiency have lower levels of Protein C, a protein that helps regulate blood clotting by preventing excessive clot formation. This can lead to an increased risk of developing abnormal blood clots, particularly in veins, a condition known as venous thromboembolism.
The deficiency can be inherited in an autosomal dominant manner, meaning only one copy of the mutated gene from a parent can cause the condition. Diagnosis typically involves blood tests to measure Protein C levels, and treatment may include anticoagulant medications to reduce the risk of clots.