Antithrombin III deficiency is a rare genetic disorder that affects the body's ability to regulate blood clotting. Antithrombin III is a protein that helps prevent excessive blood clotting by inhibiting certain clotting factors. When there is a deficiency of this protein, individuals are at an increased risk of developing abnormal blood clots, known as thrombosis. These clots can occur in veins or arteries and may lead to serious complications such as deep vein thrombosis, pulmonary embolism, or stroke.
Symptoms of antithrombin III deficiency may vary, but can include recurrent blood clots, particularly in the legs or lungs, as well as complications during pregnancy. Some individuals may also experience swelling, pain, or redness in the affected area.
Treatment for antithrombin III deficiency typically involves the use of anticoagulant medications to prevent blood clot formation. In certain cases, individuals may also require periodic infusions of antithrombin III concentrate to maintain adequate levels of the protein.
It is important for individuals with antithrombin III deficiency to work closely with their healthcare providers to manage their condition and reduce the risk of complications.