Factor XI deficiency and its management

Abstract

Factor XI deficiency, also known as hemophilia C, is an uncommon bleeding disorder caused by insufficient levels of coagulation factor XI, a critical protein in the intrinsic pathway of blood clotting. Unlike hemophilia A and B, which involve deficiencies in factors VIII and IX respectively, factor XI deficiency typically results in milder bleeding. Managing factor XI deficiency requires a comprehensive approach that considers the severity of bleeding episodes, patient responses, and potential risks. Treatment options include factor replacement therapy, desmopressin (DDAVP), and antifibrinolytic medications tailored to meet each patient's specific needs. Factor replacement therapies involve administering plasma-derived or recombinant factor XI concentrates to elevate deficient levels and effectively prevent or treat bleeding events. However, challenges arise due to the limited availability of factor XI concentrates. DDAVP, a synthetic hormone, stimulates the release of stored factor XI from endothelial cells, rapidly increasing clotting levels. While effective in some cases, not all patients respond favorably to DDAVP therapy. Antifibrinolytic medications, such as tranexamic acid, stabilize blood clots by inhibiting fibrinolysis, offering additional protection against mucosal bleeding and during surgical procedures. Individualized treatment plans, daily monitoring of factor XI levels, and close collaboration among patients, hematologists, and healthcare providers are essential for effectively managing factor XI deficiencies. This paper aims to enhance understanding of this rare condition and develop innovative treatment strategies to improve the quality of life for individuals affected by factor XI deficiencies.