Factor XI in haemostasis and thrombosis: Past, present and future

Uri Seligsohn

doi:10.1160/TH07-04-0246

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2007; 98(01): 84-89
DOI: 10.1160/TH07-04-0246

Anniversary Issue Contribution

Schattauer GmbH

Factor XI in haemostasis and thrombosis: Past, present and future

Uri Seligsohn

¹The Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

› Author Affiliations

Abstract

Full Text

References

References
1 Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med 1953; 82: 171-174.
2 Rosenthal RL, Dreskin OH, Rosenthal N. Plasma thromboplastin antecedent (PTA) deficiency; clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood 1955; 10: 120-131.
3 Rapaport SI, Proctor RR, Patch MJ, Yettra M. The mode of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. Blood 1961; 18: 149-165.
4 Seligsohn U. Factor XI activation in a revised model of blood coagulation. Blood 1978; 51: 1223-1228.
5 Gailani D, Broze Jr. GJ. Factor XI activationina revised model of blood coagulation. Science 1991; 253: 909-912.
6 Naito K, Fujikawa K. Activation of human blood coagulation factor XI independent of factor XII. Factor XI is activated by thrombin and factor XIa in the presence of negatively charged surfaces. J Biol Chem 1991; 266: 7353-7358.
7 Fujikawa K, Chung DW, Hendrickson LE, Davie EW. Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein. Biochemistry 1986; 25: 2417-2424.
8 Gailani D, Ho D, Sun MF. et al. Model for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential. Blood 2001; 97: 3117-3122.
9 Baglia FA, Walsh PN. Prothrombin is a cofactor for the binding of factor XI to the platelet surface and for platelet-mediated factor XI activation by thrombin. Biochemistry 1998; 37: 2271-2281.
10 Papagrigoriou E, McEwan PA, Walsh PN. et al. Crystal structure of the factor XI zymogen reveals a pathway for transactivation. Nat Struct Mol Biol 2006; 13: 557-558.
11 Asakai R, Davie EW, Chung DW. Organization of the gene for human factor XI. Biochemistry 1987; 26: 7221-7228.
12 Kato A, Asakai R, Davie EW. et al. Factor XI gene (F11) is located on the distal end of the long arm of human chromosome 4. Cytogenet Cell Genet 1989; 52: 77-78.
13 Asakai R, Chung DW, Ratnoff OD. et al. Factor XI (plasma thromboplastin antecedent)deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. Proc Natl Acad Sci USA 1989; 86: 7667-7671.
14 Seligsohn U. Factor XI deficiency. In: Textbook of Haemophilia. Oxford: Blackwell Publishing; 2005. pp. 321-327.
15 Asakai R, Chung DW, Davie EW. et al. Factor XI deficiency in Ashkenazi Jews in Israel. N Engl J Med 1991; 325: 153-158.
16 Shpilberg O, Peretz H, Zivelin A. et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 1995; 85: 429-432.
17 Peretz H, Mulai A, Usher S. et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. Blood 1997; 90: 2654-2659.
18 Goldstein DB, Reich DE, Bradman N. et al. Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. Am J Hum Genet 1999; 64: 1071-1075.
19 Zivelin A, Bauduer F, Ducout L. et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood 2002; 99: 2448-2454.
20 Bolton-Maggs PH, Peretz H, Butler R. et al. A commonan cestral mutation (C128X) occurring in 11 non Jewish families from the UK with factor XI deficiency. J Thromb Haemost 2004; 2: 918-924.
21 Zivelin A, Ogawa T, Bulvik S. et al. Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): across-reactive material positive variant defective in factor IX activation. J Thromb Haemost 2004; 2: 1782-1789.
22 Gailani D, Schmidt A, Sun MF. et al. Across-reactive material positive variant of coagulation factor XI (FXI) with a catalytic defect. J Thromb Haemost. 2007 in press.
23 Kravtsov DV, Wu W, Meijers JC. et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood 2004; 104: 128-134.
24 Kravtsov DV, Monahan PE, Gailani D. A classification system for cross-reactive material-negative factor XI deficiency. Blood 2005; 105: 4671-4673.
25 vondem Borne PA, Meijers JC, Bouma BN. Feedback activation of factor XI by thrombin in plasma results in additional formation of thrombin that protects fibrin clotsfrom fibrinolysis. Blood 1995; 86: 3035-3042.
26 vondem Borne PA, Cox LM, Bouma BN. Factor XI enhances fibrin generation and inhibits fibrinolysis in a coagulation model initiated by surface-coated tissue factor. Blood Coagul Fibrinolysis 2006; 17: 251-257.
27 Vondem Borne PA, Bajzar L, Meijers JC. et al. Thrombin-mediated activation of factor XI results in a thrombin-activatable fibrinolysis inhibitor-dependent inhibition of fibrinolysis. J Clin Invest 1997; 99: 2323-2327.
28 Seligsohn U. Factor XI deficiency. Thromb Haemost 1993; 70: 68-71.
29 Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency en-abling parsimonious use of replacement therapy. Haemophilia 2006; 12: 490-493.
30 Berliner S, Horowitz I, Martinowitz U. et al. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinolysis 1992; 3: 465-468.
31 Salomon O, Steinberg DM, Tamarin I. et al. Plasma replacement therapy during labor is not mandatory for women with severe factor XI deficiency. Blood Coagul Fibrinolysis 2005; 16: 37-41.
32 Brenner B, Laor A, Lupo H. et al. Bleeding predictors in factor-XI-deficient patients. Blood Coagul Fibrinolysis 1997; 8: 511-515.
33 Bolton-Maggs PH. Factor XI deficiency and its management. Haemophilia 2000; 6 (Suppl. 01) 100-109.
34 Salomon O, Zivelin A, Livnat T. et al. Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. Blood 2003; 101: 4783-4788.
35 Meijers JC, Tekelenburg WL, Bouma BN. et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000; 342: 696-701.
36 Eichinger S, Schonauer V, Weltermann A. et al. Thrombin-activatable fibrinolysis inhibitor and the risk for recurrent venous thromboembolism. Blood 2004; 103: 3773-3776.
37 Tanis B, Algra A, vander Graaf Y. et al. Procoagulant factors and the risk of myocardial infarction in young women. Eur J Haematol 2006; 77: 67-73.
38 Merlo C, Wuillemin WA, Redondo M. et al. Elevated levels of plasma prekallikrein, high molecular weight kininogen and factor XI in coronary heart disease. Atherosclerosis 2002; 161: 261-267.
39 Doggen CJ, Rosendaal FR, Meijers JC. Levels of intrinsic coagulation factors and the risk of myocardial infarction among men: Opposite and synergistic effects of factors XI and XII. Blood 2006; 108: 4045-4051.
40 Yang DT, Flanders MM, Kim H. et al. Elevated factor XI activity levels are associated with an increased odds ratiofor cerebrovascular events. Am J Clin Pathol 2006; 126: 411-415.
41 Sramek A, Reiber JH, Gerrits WB. et al. Decreased coagulability has no clinically relevant effect on athero-genesis: observations in individuals with a hereditary bleeding tendency. Circulation 2001; 104: 762-767.
42 Sramek A, Bucciarelli P, Federici AB. et al. Patients with type 3 severe von Willebrand disease are not protected against atherosclerosis: results from a multi-center study in 47 patients. Circulation 2004; 109: 740-744.
43 Shpilberg O, Rabi I, Schiller K. et al. Patients with Glanzmann thrombasthenia lacking platelet glycoprotein alpha(IIb)beta(3) (GPIIb/IIIa) and alpha(v)beta(3) receptors are not protected from atherosclerosis. Circulation 2002; 105: 1044-1048.
44 Rosendaal FR, Briet E, Stibbe J. et al. Haemophilia protects against ischaemic heart disease: a study of risk factors. Br J Haematol 1990; 75: 525-530.
45 Triemstra M, Rosendaal FR, Smit C. et al. Mortality in patients with hemophilia. Changes in a Dutch population from 1986 to 1992 and 1973 to 1986. Ann Intern Med 1995; 123: 823-827.
46 Minnema MC, Friederich PW, Levi M. et al. Enhancement of rabbit jugular vein thrombolysis by neu-tralization of factor XI. In vivo evidence for a role of factor XI as an anti-fibrinolytic factor. J Clin Invest 1998; 101: 10-14.
47 Rosen ED. FXI is essential for thrombus for mation following FeCl3-induced injury of the carotid artery in the mouse. Thromb Haemost 2002; 87: 774-776.
48 Wang X, Cheng Q, Xu L. et al. Effects of factor IX or factor XI deficiency on ferric chloride-induced carotid artery occlusion in mice. J Thromb Haemost 2005; 3: 695-702.
49 Gruber A, Hanson SR. Factor XI-dependence of surface- and tissue factor-initiated thrombus propagation in primates. Blood 2003; 102: 953-955.
50 Yamashita A, Nishihira K, Kitazawa T. et al. Factor XI contributes to thrombus propagation on injured neointima of the rabbit iliac artery. J Thromb Haemost 2006; 4: 1496-1501.
51 Wang X, Smith PL, Hsu MY. et al. Effects of factor XI deficiency on ferric chloride-induced vena cava thrombosis in mice. J Thromb Haemost 2006; 4: 1982-1988.
52 Renne T, Pozgajova M, Gruner S. et al. Defective thrombus formation in mice lacking coagulation factor XII. J Exp Med 2005; 202: 271-281.
53 Kleinschnitz C, Stoll G, Bendszus M. et al. Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis. J Exp Med 2006; 203: 513-518.
54 Girolami A, Ruzzon E, Tezza F. et al. Arterial and venous thrombosis in rare congenital bleeding disorders: a critical review. Haemophilia 2006; 12: 345-351.
55 Salomon O, Steinberg DM, Dardik R. et al. Inherited factor XI deficiency confers no protection against acute myocardial infarction. J Thromb Haemost 2003; 1: 658-661.
56 Smith SA, Mutch NJ, Baskar D. et al. Polyphosphate modulates blood coagulation and fibrinolysis. Proc Natl Acad Sci USA 2006; 103: 903-908.
57 Kannemeier C, Shibamiya A, Nakazawa F. et al. Extracellular RNA constitutes a natural procoagulant cofactor in blood coagulation. Proc Natl Acad Sci USA 2007; 104: 6388-6393.
58 Goodnough LT, Saito H, Ratnoff OD. Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. Medicine (Baltimore) 1983; 62: 248-255.
59 Zeerleder S, Schloesser M, Redondo M. et al. Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swissfamilies. Thromb Haemost 1999; 82: 1240-1246.