What is Hereditary Thrombophilia due to Congenital Protein S Deficiency

Hereditary Thrombophilia due to Congenital Protein S Deficiency is a genetic condition characterized by a deficiency of protein S, a natural anticoagulant protein in the blood. Protein S plays a crucial role in regulating blood clotting by inhibiting the formation of blood clots.

Individuals with this condition have an increased risk of developing abnormal blood clots, known as thrombosis, which can occur in veins or arteries. The most common sites for thrombosis include deep veins in the legs (deep vein thrombosis) and lungs (pulmonary embolism).

Hereditary Thrombophilia due to Congenital Protein S Deficiency is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the defective gene from either parent to be affected. However, not all individuals with a protein S deficiency will develop abnormal blood clots, as other factors such as environmental triggers and additional genetic variations can influence the risk.

Diagnosis of this condition involves blood tests to measure protein S levels and genetic testing to identify the specific gene mutations responsible. Treatment typically involves the use of anticoagulant medications to prevent blood clot formation and reduce the risk of complications.