Factor II deficiency, also known as prothrombin deficiency, is a rare inherited bleeding disorder characterized by the deficiency or impaired activity of factor II, also called prothrombin. Factor II is an important protein involved in the blood clotting process, as it serves as a precursor to thrombin, a key enzyme in clot formation.
In individuals with factor II deficiency, the blood is unable to adequately clot, leading to prolonged bleeding episodes and an increased risk of excessive bleeding following injury or surgery. The severity and frequency of bleeding can vary widely among affected individuals, with some experiencing mild symptoms while others may have severe, life-threatening bleeding episodes.
Factor II deficiency is caused by mutations in the F2 gene, which provides instructions for the production of factor II. These mutations disrupt the normal production or function of the protein, resulting in reduced levels or abnormal activity of factor II. Since factor II is primarily synthesized in the liver, liver disease or damage can also lead to decreased factor II levels.
Diagnosis of factor II deficiency involves blood tests to measure levels of factor II and assess its activity. Treatment options include replacement therapy with plasma-derived factor II concentrates or fresh frozen plasma, which can temporarily increase factor II levels and improve blood clotting. During times of increased bleeding risk, individuals with factor II deficiency may require prophylactic treatment or administration of clotting factor concentrates prior to invasive procedures.
Overall, factor II deficiency is a rare bleeding disorder characterized by a deficiency or impaired activity of factor II, leading to abnormal blood clotting and an increased risk of bleeding.
