i-manager Publications

Factor XI Deficiency and its Management

Rehan Haider*, Asghar Mehdi**, Geetha Kumari Das***, Zameer Ahmed Khanzada****, Sambreen Zameer Khanzada*****

* Department of Pharmacy, University of Karachi, Pakistan.

** Department of Pharmacology, Fazaia Ruth Pfau Medical College, Air University, Karachi, Pakistan.

*** OPJS University, Rajasthan, India.

****-***** Department of Pathology, Dow University of Health Sciences, Karachi, Pakistan.

Periodicity:January - April'2024
DOI : https://doi.org/10.26634/jls.3.1.20936

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.

Keywords

Aspect XI Deficiency, Hemophilia C, Bleeding Disorder, Intrinsic Pathway, Coagulation Thing XI, Hemophilia A and B.

How to Cite this Article?

Haider, R., Mehdi, A., Das, G. K., Khanzada, Z. A., and Khanzada, S. Z. (2024). Factor XI Deficiency and its Management. i-manager's Journal on Life Sciences, 3(1), 11-24. https://doi.org/10.26634/jls.3.1.20936

References

[1]. Aghai, E., Yaniv, I., & David, M. (1984). Factor XI deficiency in an arab moslem family in Israel. Scandinavian Journal of Haematology, 32(3), 327-331.

[2]. Asakai, R., Davie, E. W., & Chung, D. W. (1987). Organization of the gene for human factor XI. Biochemistry, 26(23), 7221-7228.

[3]. Bairey, O., Shaklai, M., & Inbal, A. (1991). Haemarthrosis in patients with mild coagulation factor deficiency. Blood Coagulation & Fibrinolysis, 2(5), 669- 672.

[4]. Bauer, K. A., Kass, B. L., ten Cate, H., Hawiger, J. J., & Rosenberg, R. D. (1990). Factor IX is activated in vivo by the tissue factor mechanism. Blood, 76 (4), 731–736.

[5]. Bolton-Maggs, P. H. B., Patterson, D. A., Wensley, R. T., & Tuddenham, E. G. D. (1995). Definition of the bleeding tendency in factor XI-deficient kindreds–a clinical and laboratory study. Thrombosis and Haemostasis, 73(02), 194-202.

[6]. Bolton Maggs, P. H. B., Wan Yin, B. Y., McCraw, A. H., Slack, J., & Kernoff, P. B. A. (1988). Inheritance and bleeding in factor XI deficiency. British Journal of Haematology, 69(4), 521-528.

[7]. Bouma, B. N., & Griffin, J. H. (1977). Human blood coagulation factor XI: Purification, properties, and mechanism of activation by activated factor XII. Journal of Biological Chemistry, 252(18), 6432-6437.

[8]. Brenner, B., Lupo, H., Laor, A., Zivelin, A., Lanir, N., & Seligsohn, U. (1995). Predictors of bleeding in factor XI deficiency. Thromb Haemostas, 73, 1441.

[9]. Brenner, B., Stemberg, T., Laor, A., Tavori, S., Tatarsky, I., & Lanir, N. (1995). Von Willebrand factor antigen and factor XI activity levels as predictors of bleeding tendency in israeli patients with Von Willebrand's disease. Clinical and Applied Thrombosis/Hemostasis, 1(4), 260-264.

[10]. Broze Jr, G. J., & Gailani, D. (1993). The role of factor XI in coagulation. Thrombosis and Haemostasis, 70(07), 072-074.

[11]. Campbell, E. W., Mednicoff, I. B., & Dameshek, W. (1957). Plasma thromboplastin antecedent (PTA) deficiency. Archives of Internal Medicine (AMA), 100(2), 232-240.

[12]. Cavins, J. A., & Wall, R. L. (1960). Clinical and laboratory studies of plasma thromboplastin antecedent deficiency (PTA). The American Journal of Medicine, 29(3), 444-448.

[13]. Edson, J. R., White, J. G., & Krivit, W. (1967). The enigma of severe factor XI deficiency without hemorrhagic symptoms. Thrombosis and Haemostasis, 18(07/08), 342-348.

[14]. Fraser, I. S., McCarron, G., & Markham, R. (1984). A preliminary study of factors influencing perception of menstrual blood loss volume. American Journal of Obstetrics and Gynecology, 149(7), 788-793.

[15]. Gailani, D., & Broze Jr, G. J. (1991). Factor XI activation in a revised model of blood coagulation. Science, 253(5022), 909-912.

[16]. Ganson Purcell, J., & Nossel, H. L. (1970). Factor XI (PTA) deficiency: Surgical and obstetric aspects. Obstetrics & Gynecology, 35(1), 69-74.

[17]. Gomez, K., & Bolton-Maggs, P. (2008). Factor XI deficiency. Haemophilia, 14(6), 1183-1189.

[18]. Hayashi, T. (1997). Cross-reacting material positive (CRM+) factor XI deficiency, Factor XI Yamagata, with a GT to AT transition at donor splicing site in intron J of the factor XI gene. Thromb Haemost, 78, PS1883.

[19]. Hellstern, P., Mannhalter, C., Kohler, M., Kiehl, R., von Blohn, G., Wenzel, E., & Deutsch, E. (1985). Combined dys-form of homozygous factor XI deficiency and heterozygous factor XII deficiency. Haemostasis, 15(3), 215-219.

[20]. Henry, E. I., Rosenthal, R. L., & Hoffman, I. (1956). Spontaneous hemorrhages caused by plasma- thromboplastin-antecedent deficiency: Report of a case. Journal of the American Medical Association, 162(8), 727-729.

[21]. Kadir, R. A., Economides, D. L., Sabin, C. A., Owens, D., & Lee, C. A. (1998). Frequency of inherited bleeding disorders in women with menorrhagia. The Lancet, 351(9101), 485-489.

[22]. Lee, C. A., Kessler, C. M., Varon, D., Martinowitz, U., Heim, M., & BOLTON MAGGS, P. H. B. (1998). The management of factor XI deficiency. Haemophilia: State of the Art, 4(4), 683-688.

[23]. Leiba, H., Ramot, B., & Many, A. (1965). Heredity and coagulation studies in ten families with factor XI (plasma thromboplastin antecedent) deficiency. British Journal of Haematology, 11(6), 654-665.

[24]. Lewandowska, M. D., & Connors, J. M. (2021). Factor XI deficiency. Hematology/Oncology Clinics, 35(6), 1157-1169.

[25]. Litz, C. E., Swaim, W. R., & Dalmasso, A. P. (1988). Factor XI deficiency: Genetic and clinical studies of a single kindred. American Journal of Hematology, 28(1), 8- 12.

[26]. Mandle, R. J., & Kaplan, A. P. (1979). Hageman- factor-dependent fibrinolysis: Generation of fibrinolytic activity by the interaction of human activated factor XI and plasminogen. Blood, 54 (4), 850–862.

[27]. Mannhalter, C., Hellstern, P., & Deutsch, E. (1987). Identification of a defective factor XI cross-reacting material in a factor XI-deficient patient. Blood, 70 (1), 31–37.

[28]. Mustafa, M. H., & Bernstein, R. A. (1987). Spontaneous spinal epidural hematoma, brown-séquard syndrome, and factor Xl deficiency. Annals of Internal Medicine, 106(3), 477-478.

[29]. Phillips, L. L., Hyman, G. A., & Rosenthal, R. L. (1965). Prolonged postoperative bleeding in a patient with factor XI (PTA) deficiency. Annals of Surgery, 162(1), 37-42.

[30]. Quelin, F., Trossaert, M., Sigaud, M., Mazancourt, P. D. E., & Fressinaud, E. (2004). Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. Journal of Thrombosis and Haemostasis, 2(1), 71-76.

[31]. Ragni, M. V., Sinha, D., Seaman, F., Lewis, J. H., Spero, J. A., & Walsh, P. N. (1985). Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds. Blood, 65(3), 719-724.

[32]. Rapaport, S. I., Proctor, R. R., Patch, M. J., & Yettra, M. (1961). The mode of inheritance of PTA deficiency: Evidence for the existence of major PTA deficiency and minor PTA deficiency. Blood, 18(2), 149-165.

[33]. Rimon, A., Schiffman, S., Feinstein, D. I., & Rapaport, S. I. (1976). Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency. Blood, 48 (2), 165–174.

[34]. Rimon, A., Schiffman, S., Feinstein, D. I., & Rapaport, S. I. (1976). Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency. Blood, 48 (2), 165–174.

[35]. Rosenthal, R. L., Dreskin, O. H., & Rosenthal, N. (1953). New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proceedings of the Society for Experimental Biology and Medicine, 82(1), 171-174.

[36]. Rosenthal, R. L., Dreskin, O. H., & Rosenthal, N. (1955). Plasma thromboplastin antecedent (PTA) deficiency: Clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood, 10(2), 120-131.

[37]. Saito, H. (1980). The participation of plasma thromboplastin antecedent (factor XI) in contact- activated fibrinolysis. Proceedings of the Society for Experimental Biology and Medicine, 164(2), 153-157.

[38]. Slade Jr, W. R., & Rabiner, A. M. (1973). Plasma thromboplastin antecedent deficiency and subarachnoid hemorrhage. Angiology, 24(9), 533-537.

[39]. Soff, G. A., & Levin, J. (1981). Familial multiple coagulation factor deficiencies. In Seminars in Thrombosis and Hemostasis, 7 (2), 112-148.

[40]. Walsh, P. N. (2001). Roles of platelets and factor XI in the initiation of blood coagulation by thrombin. Thrombosis and Haemostasis, 86(07), 75-82.

[41]. Walsh, P. N. (2003). Roles of factor XI, platelets and tissue factor-initiated blood coagulation. Journal of Thrombosis and Haemostasis, 1(10), 2081-2086.

[42]. Zacharski, L. R., & French, E. E. (1978). Factor XI (PTA) deficiency in an English-American kindred. Thrombosis and Haemostasis, 39(01), 215-222.

If you have access to this article please login to view the article or kindly login to purchase the article

Single Article

	North Americas,UK, Middle East,Europe		India	Rest of world
	USD	EUR	INR	USD-ROW
Online	15	15

ADD TO CART

Options for accessing this content:

If you would like institutional access to this content, please recommend the title to your librarian.
If you already have i-manager's user account: Login above and proceed to purchase the article.
New Users: Please register, then proceed to purchase the article.