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Factor XI Deficiency

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;82:171-4.
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  25. Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost. 2012;10:615-21.
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  28. Seligsohn U. Factor XI deficiency in humans. J Thromb Haemost. 2009;7 Suppl 1:84-7.
  29. Bolton-Maggs PH, Peretz H, Butler R, Mountford R, Keeney S, Zacharski L, et al. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. J Thromb Haemost. 2004;2:918-24.
  30. Zivelin A, Bauduer F, Ducout L, Peretz H, Rosenberg N, Yatuv R, et al. Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. Blood. 2002;99:2448-54.
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  32. Salomon O, Steinberg DM, Seligshon U. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia. 2006;12:490-3.
  33. Kadir RA, Economides DL, Lee CA. Factor XI deficiency in women. Am J Hematol. 1999;60:48-54.
  34. Kadir RA, Kingman CE, Chi C, O’Connell N M, Riddell A, Lee CA, et al. Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin. Haemophilia. 2006;12:625-8.
  35. Kadir RA, Sharief LA, Lee CA. Inherited bleeding disorders in older women. Maturitas. 2012;72:35-41.
  36. Wiewel-Verschueren S, Meijer K. Gynaecological and obstetrical bleeding in women with factor XI deficiency – a systematic review: response to rebuttal. Haemophilia. 2016;22:e436-7.
  37. Bolton-Maggs PH. Factor XI deficiency–resolving the enigma? Hematology Am Soc Hematol Educ Program. 2009:97-105.
  38. Livnat T, Tamarin I, Mor Y, Winckler H, Horowitz Z, Korianski Y, et al. Recombinant activated factor VII and tranexamic acid are haemostatically effective during major surgery in factor XI-deficient patients with inhibitor antibodies. Thromb Haemost. 2009;102:487-92.
  39. Bolton-Maggs PH, Wensley RT, Kernoff PB, Kasper CK, Winkelman L, Lane RS, et al. Production and therapeutic use of a factor XI concentrate from plasma. Thromb Haemost. 1992;67:314-9.
  40. Bolton-Maggs PH, Colvin BT, Satchi BT, Lee CA, Lucas GS. Thrombogenic potential of factor XI concentrate. Lancet. 1994;344:748-9.
  41. Bolton-Maggs P, Goudemand J, Hermans C, Makris M, de Moerloose P. FXI concentrate use and risk of thrombosis. Haemophilia. 2014;20:e349-51.
  42. Pike GN, Bolton-Maggs PH. Factor XI-related thrombosis and the role of concentrate treatment in factor XI deficiency. Haemophilia. 2015;21:477-80.
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  45. Ling G, Kagdi H, Subel B, Chowdary P, Gomez K. Safety and efficacy of factor XI (FXI) concentrate use in patients with FXI deficiency: a single-centre experience of 19 years. Haemophilia. 2016;22:411-8.
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  47. Berliner S, Horowitz I, Martinowitz U, Brenner B, Seligsohn U. Dental surgery in patients with severe factor XI deficiency without plasma replacement. Blood Coagul Fibrinolysis. 1992;3:465-8.
  48. Salomon O, Zivelin A, Livnat T, Seligsohn U. Inhibitors to Factor XI in patients with severe Factor XI deficiency. Semin Hematol. 2006;43:S10-2.
  49. LFB. Hemoleven International Guidance Document. 2016.
  50. Gueguen P, Galinat H, Blouch MT, Bridey F, Duchemin J, Le Gal G, et al. Biological determinants of bleeding in patients with heterozygous factor XI deficiency. Br J Haematol. 2012;156:245-51.
  51. von dem 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;17:251-7.
  52. Salomon O, Steinberg DM, Koren-Morag N, Tanne D, Seligsohn U. Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. Blood. 2008;111:4113-7.
  53. Salomon O, Steinberg DM, Zucker M, Varon D, Zivelin A, Seligsohn U. Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis. Thromb Haemost. 2011;105:269-73.
  54. Salomon O, Steinberg DM, Dardik R, Rosenberg N, Zivelin A, Tamarin I, et al. Inherited factor XI deficiency confers no protection against acute myocardial infarction. J Thromb Haemost. 2003;1:658-61.
  55. Schumacher WA, Luettgen JM, Quan ML, Seiffert DA. Inhibition of factor XIa as a new approach to anticoagulation. Arterioscler Thromb Vasc Biol. 2010;30:388-92.
  56. Younis HS, Crosby J, Huh JI, Lee HS, Rime S, Monia B, et al. Antisense inhibition of coagulation factor XI prolongs APTT without increased bleeding risk in cynomolgus monkeys. Blood. 2012;119:2401-8.
  57. Zhang H, Lowenberg EC, Crosby JR, MacLeod AR, Zhao C, Gao D, et al. Inhibition of the intrinsic coagulation pathway factor XI by antisense oligonucleotides: a novel antithrombotic strategy with lowered bleeding risk. Blood. 2010;116:4684-92.
  58. Weitz JI. Factor XI and factor XII as targets for new anticoagulants. Thromb Res. 2016;141 Suppl 2:S40-5.
  59. Thomas D, Thelen K, Mey Dvd, Schwers S, Schiffer S, Unger S, et al. First Evaluation of the Safety, Pharmacokinetics and Pharmacodynamics of BAY 1213790, a Full Human IgG1 Antibody Targeting Coagulation Factor XIa, in Healthy Young Men. Research and Practice in Thrombosis and Haemostasis. 2017;1:392.
  60. Buller HR, Gailani D, Weitz JI. Factor XI antisense oligonucleotide for venous thrombosis. N Engl J Med. 2015;372:1672.
  61. Sennblad B, Basu S, Mazur J, Suchon P, Martinez-Perez A, van Hylckama Vlieg A, et al. Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. Hum Mol Genet. 2017;26:637-49.
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Acknowledgment

Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).

The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.

The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.

A collaboration of RBDD & IHTC

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