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Journal articles on the topic 'Factor XI Deficiency'

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Published: 2 June 2025

Last updated: 31 July 2025

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1

Seligsohn, Uri. "Factor XI Deficiency." Thrombosis and Haemostasis 70, no. 01 (1993): 068–71. http://dx.doi.org/10.1055/s-0038-1646162.

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2

O’Connell, Niamh M. "Factor XI deficiency." Seminars in Hematology 41 (January 2004): 76–81. http://dx.doi.org/10.1053/j.seminhematol.2003.11.015.

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3

Beilin, Yaakov, and Daniel J. Katz. "Factor XI Deficiency." Anesthesia & Analgesia 128, no. 1 (2019): e10-e9. http://dx.doi.org/10.1213/ane.0000000000003869.

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4

Santoro, Rita, Simona Prejanò, and Piergiorgio Iannaccaro. "Factor XI deficiency." Blood Coagulation & Fibrinolysis 22, no. 5 (2011): 431–35. http://dx.doi.org/10.1097/mbc.0b013e32834689e4.

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5

Duga, Stefano, and Ophira Salomon. "Factor XI Deficiency." Seminars in Thrombosis and Hemostasis 35, no. 04 (2009): 416–25. http://dx.doi.org/10.1055/s-0029-1225764.

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6

Brush, Pamela J. "Bovine factor XI deficiency." In Practice 13, no. 1 (1991): 26–29. http://dx.doi.org/10.1136/inpract.13.1.26.

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7

Bolton-Maggs, Paula H. B. "10 Factor XI deficiency." Baillière's Clinical Haematology 9, no. 2 (1996): 355–68. http://dx.doi.org/10.1016/s0950-3536(96)80068-0.

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8

Martin-Salces, Monica, Victor Jimenez-Yuste, Maria Teresa Alvarez, Manuel Quintana, and Fernando Hernandez-Navarro. "Review: Factor XI Deficiency: Review and Management in Pregnant Women." Clinical and Applied Thrombosis/Hemostasis 16, no. 2 (2008): 209–13. http://dx.doi.org/10.1177/1076029608327864.

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Factor XI deficiency is a rare disease found predominantly in Ashkenazi Jews. There is a poor correlation between factor XI level and bleeding in patients with factor XI deficiency. Individuals with severe factor XI deficiency are usually at risk of excessive bleeding after surgery and injury, particularly when trauma involves tissues rich in fibrinolytic activity. Women with partial or severe deficiency are at risk of excessive uterine bleeding during labor. The unpredictable nature of factor XI deficiency complicates management during pregnancy and delivery. This review gives an overview of

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9

Troxel, Mark T., Marjory B. Brooks, and Meredith L. Esterline. "Congenital Factor XI Deficiency in a Domestic Shorthair Cat." Journal of the American Animal Hospital Association 38, no. 6 (2002): 549–53. http://dx.doi.org/10.5326/0380549.

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A 6-month-old, female, domestic shorthair cat was examined after onychectomy and ovariohysterectomy because of bleeding from the paws. Prolonged activated partial thromboplastin time was discovered. Coagulation factor analyses revealed deficiency of factor XI coagulant activity. Plasma mixing studies indicated factor deficiency or dysfunction rather than factor inhibition. Feline factor XI deficiency in one adult cat has been previously reported but was attributed to factor XI inhibitors. The signalment, lack of primary disease, and the finding of persistent factor XI deficiency in the absence

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10

Rehan, Haider, Mehdi Asghar, Kumari Das Geetha, Ahmed Khanzada Zameer, and Zameer Khanzada Sambreen. "Factor XI deficiency and its management." i-manager's Journal on Life Sciences 3, no. 1 (2024): 11. http://dx.doi.org/10.26634/jls.3.1.20936.

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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 antifibrinolyt

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11

BOLTON-MAGGS M, PAULA. "Factor XI deficiency: a review." Haemophilia 1, no. 4 (1995): 217–21. http://dx.doi.org/10.1111/j.1365-2516.1995.tb00078.x.

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12

Wanderer, Jonathan P., and Naveen Nathan. "Factor XI Deficiency and Pregnancy." Anesthesia & Analgesia 127, no. 1 (2018): 2. http://dx.doi.org/10.1213/ane.0000000000003501.

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13

Herrada, Juan, Maria Chona Aloba, Dorothy M. Adcock, Anuradha Gupta, Luis S. Noble, and Mark M. Landeros. "Asymptomatic Familial Factor XI Deficiency." Blood 114, no. 22 (2009): 4449. http://dx.doi.org/10.1182/blood.v114.22.4449.4449.

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Abstract Abstract 4449 Background Factor XI deficiency (known as Rosenthal syndrome or hemophilia C) is an autosomal disorder affecting both sexes which results in a bleeding disorder of variable severity. This condition is very uncommon among the non-Jewish population and consists mostly of sporadic cases, although an occasional familial cluster has been described (Bolton-Maggs et al. J Thromb Haemost 2004 Jun;2(6):918-24). We present two asymptomatic siblings with coagulation Factor XI deficiency. Case Report In February 2004 a healthy 33 year-old non-Jewish white female without personal or

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14

SELIGSOHN, U. "Factor XI deficiency in humans." Journal of Thrombosis and Haemostasis 7 (July 2009): 84–87. http://dx.doi.org/10.1111/j.1538-7836.2009.03395.x.

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15

Kadir, R. A., D. L. Economides, and C. A. Lee. "Factor XI deficiency in women." American Journal of Hematology 60, no. 1 (1999): 48–54. http://dx.doi.org/10.1002/(sici)1096-8652(199901)60:1<48::aid-ajh8>3.0.co;2-q.

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16

Colman, Robert W., A. Koneti Rao, Ronald N. Rubin, and Peter N. Walsh. "Factor XI deficiency and hemostasis." American Journal of Hematology 45, no. 1 (1994): 73–78. http://dx.doi.org/10.1002/ajh.2830450111.

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17

Gerdes, Victor E. A., Roderik A. Kraaijenhagen, Esther W. M. Vogels, Hugo Ten Cate, and Pieter H. Reitsma. "Factor XI gene analysis in thrombophilia and factor XI deficiency." Journal of Thrombosis and Haemostasis 2, no. 6 (2004): 1015–17. http://dx.doi.org/10.1111/j.1538-7836.2004.00726.x.

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18

Gailani, David. "Factor IX for treating factor XI deficiency?" Blood 134, no. 6 (2019): 501–2. http://dx.doi.org/10.1182/blood.2019001826.

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19

Brenner, Benjamin, Tamar Stemberg, Arieh Laor, Shulamit Tavori, Ilana Tatarsky, and Naomi Lanir. "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, no. 4 (1995): 260–64. http://dx.doi.org/10.1177/107602969500100402.

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Previous preliminary data and case reports have suggested an association of von Willebrand's disease (vWD) with factor XI deficiency and platelet abnormalities. We have analyzed the prevalence of factor XI deficiency and thrombocytopathy in a cohort of Israeli patients with vWD. Decreased factor XI levels (<67 U/dl) were documented in 35 of 63 (36%) vWD subjects; factor XI levels were <30 U/dl in five of 60 (8%). A significant decline in ADP-induced platelet aggregation (<30% of control) was found in 48% of vWD patients. Likewise, epinephrine-induced aggregation was reduced in 41%, an

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20

Salomon, Ophira, Ariella Zivelin, Tami Livnat, and Uri Seligsohn. "Inhibitors to Factor XI in Patients With Severe Factor XI Deficiency." Seminars in Hematology 43 (January 2006): S10—S12. http://dx.doi.org/10.1053/j.seminhematol.2005.11.018.

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21

Nováková, I. R. O., C. A. M. van Ginneken, H. W. Verbruggen, and C. Haanen. "Factor XI Kinetics after Plasma Exchange in Severe Factor XI Deficiency." Pathophysiology of Haemostasis and Thrombosis 16, no. 1 (1986): 51–56. http://dx.doi.org/10.1159/000215269.

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22

Preis, Meir, Julianna Hirsch, Antonio Kotler, Nili Stein, Ahmad Zoabi, and Walid Saliba. "Inherited Factor XI Deficiency Is Associated with Decrease Risk for Cardiovascular Adverse Event and Venous Thromboembolism - Israeli Population Based Study." Blood 128, no. 22 (2016): 1387. http://dx.doi.org/10.1182/blood.v128.22.1387.1387.

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Abstract Introduction Israel contains within it a unique variety of groups predisposed to autosomal recessive diseases secondary to the history of segregated religious communities. Indicated groups include Ashkenazi Jews and Israeli Arabs. Factor XI deficiency is one of the conditions that can be included in this group of diseases. It is reported to have a prevalence of 8-13.4% within the Ashkenazi Jewish community as compared to a 1 in a million in the general population. Due to the risk for bleeding and delayed coagulation as a result of a deficient Factor XI, it has been postulated that an

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23

Bolton-Maggs, Paula H. B. "Factor XI deficiency—resolving the enigma?" Hematology 2009, no. 1 (2009): 97–105. http://dx.doi.org/10.1182/asheducation-2009.1.97.

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Abstract The management of factor XI deficiency is not straightforward for three reasons: firstly, the role of this factor in the coagulation pathway is not clearly understood; secondly, the bleeding tendency, although mild, is unpredictable and does not clearly relate to the factor XI level; and thirdly, all treatment products, although available, have some potentially serious side effects. These factors (or enigmas) contribute to the variable management of patients with this coagulation factor deficiency, but recent research is helping to clarify some of these areas.

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24

Shnerb, Reut, Dror Harats, Ginette Schiby, et al. "Factor XI Deficiency Protects Against Atherogenesis." Blood 126, no. 23 (2015): 421. http://dx.doi.org/10.1182/blood.v126.23.421.421.

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Abstract In industrialized societies atherosclerosis is still a major cause of morbidity and mortality, in spite of advances in development of cholesterol lowering drugs such as statins and ezetimibe. The detection of procoagulant proteases within atherosclerotic plaques, and the observation that patients with severe factor XI (FXI) deficiency have a reduced tendency to develop ischemic stroke, lead us to investigate whether absence of FXI would affect the process of atherogenesis. For this purpose, we created mice that are homozygous for null alleles for apolipoprotein E (apoE) and FXI (Doubl

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25

Singh, A., M. J. Harnett, J. M. Connors, and W. R. Camann. "Factor XI Deficiency and Obstetrical Anesthesia." Obstetric Anesthesia Digest 30, no. 2 (2010): 135–36. http://dx.doi.org/10.1097/01.aoa.0000370559.52565.1a.

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26

SMITH, J. K. "Factor XI deficiency and its management." Haemophilia 2, no. 3 (2010): 128–36. http://dx.doi.org/10.1111/j.1365-2516.1996.tb00155.x.

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27

Salomon, O., and U. Seligsohn. "New observations on factor XI deficiency." Haemophilia 10, s4 (2004): 184–87. http://dx.doi.org/10.1111/j.1365-2516.2004.00992.x.

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28

Lee, C. A., C. M. Kessler, D. Varon, U. Martinowitz, M. Heim, and P. H. B. BOLTON-MAGGS. "The management of factor XI deficiency." Haemophilia 4, no. 4 (1998): 683–88. http://dx.doi.org/10.1046/j.1365-2516.1998.440683.x.

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29

Bolton-Maggs. "Factor XI deficiency and its management." Haemophilia 6, s1 (2000): 100–109. http://dx.doi.org/10.1046/j.1365-2516.2000.00053.x.

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30

&NA;. "Factor XI Deficiency and Obstetrical Anesthesia." Survey of Anesthesiology 54, no. 6 (2010): 284–85. http://dx.doi.org/10.1097/01.sa.0000389753.85657.fd.

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31

RENNÉ, T., C. OSCHATZ, S. SEIFERT, et al. "Factor XI deficiency in animal models." Journal of Thrombosis and Haemostasis 7 (July 2009): 79–83. http://dx.doi.org/10.1111/j.1538-7836.2009.03393.x.

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32

Souabni, Leila, Nihel Meddeb, Houda Ajlani, Neila Ben Romdhane, and Sleheddine Sellami. "Hemarthrosis revealing congenital factor XI deficiency." Joint Bone Spine 75, no. 3 (2008): 348–49. http://dx.doi.org/10.1016/j.jbspin.2007.06.013.

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33

Duga, Stefano, and Ophira Salomon. "Congenital Factor XI Deficiency: An Update." Seminars in Thrombosis and Hemostasis 39, no. 06 (2013): 621–31. http://dx.doi.org/10.1055/s-0033-1353420.

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34

Singh, Amarjeet, Miriam J. Harnett, Jean M. Connors, and William R. Camann. "Factor XI Deficiency and Obstetrical Anesthesia." Anesthesia & Analgesia 108, no. 6 (2009): 1882–85. http://dx.doi.org/10.1213/ane.0b013e3181a28715.

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35

de Haan, M., J. J. P. v. d. Kamp, E. Briët, J. Dubbeldam, John M. Optiz, and James F. Reynolds. "Noonan Syndrome: Partial factor XI deficiency." American Journal of Medical Genetics 29, no. 2 (1988): 277–82. http://dx.doi.org/10.1002/ajmg.1320290205.

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36

Preis, Meir, Julianna Hirsch, Antonio Kotler, et al. "Factor XI deficiency is associated with lower risk for cardiovascular and venous thromboembolism events." Blood 129, no. 9 (2017): 1210–15. http://dx.doi.org/10.1182/blood-2016-09-742262.

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37

Walsh, Peter. "Platelets and Factor XI Bypass the Contact System of Blood Coagulation." Thrombosis and Haemostasis 82, no. 08 (1999): 234–42. http://dx.doi.org/10.1055/s-0037-1615838.

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IntroductionFactor XI is a plasma glycoprotein (concentration ∼30 nM) that was first identified by Rosenthal et al1 as a plasma coagulation factor deficiency in patients with abnormal hemostasis, particularly common among Ashkenazi Jews.2,3 In spite of recent advances in our understanding of the structure of factor XI and its gene, the structure-function relationships of the protein, and the molecular genetics of factor XI deficiency, considerable confusion about the physiologic role and clinical relevance of factor XI has arisen from both clinical and biochemical observations. One problem ari

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38

Salomon, Ophira, Ariella Zivelin, Ilia Tamarin, David M. Steinberg, David Varon, and Uri Seligsohn. "Patients with Severe Factor XI Deficiency Have a Reduced Incidence of Venous Thromboembolism." Blood 114, no. 22 (2009): 3491. http://dx.doi.org/10.1182/blood.v114.22.3491.3491.

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Abstract Abstract 3491 Poster Board III-428 Patients with severe factor XI deficiency (level ≤15U/dL) were recently found to be protected against ischemic stroke but not against myocardial infarction (Blood 2008, 111:4113). Regarding venous thrombosis, several clinical and experimental observations suggest that factor XI deficiency might confer protection. Thus, only 2 patients with severe factor XI deficiency have been reported with unprovoked venous thromboembolism, and protection against FeCl3 Cinduced thrombosis in the vena cava was observed in factor XI deficient mice (J Thromb Haemost 20

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39

Ussenbekov, Yessengali Serikovich, Orik Orazimanovna Zhanserkenova, Shinar Nikolaevna Kasymbekova, et al. "Identification of concealed disturbance of blood coagulation (deficiency of factor XI) by polymerase chain reaction (experimental study)." Pediatrician (St. Petersburg) 6, no. 3 (2015): 69–73. http://dx.doi.org/10.17816/ped6369-73.

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Minor bleeding is quite common in children and in some cases masks the serious disease of blood clotting. As a rule, this rare inherited disease associated with deficiency of coagulation factors as the I, II, V, VII, X, XI and XIII, as well as deficiency conjugate, most often, the joint failure factors V and VIII and factor whose synthesis associated with vitamin K. The pediatric clinic is difficult to fulfill a randomized trial because of the difficulty of identifying such children carriers of genetic abnormalities at a specific blood clotting factor. In connection with the model of deficienc

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40

Ragni, MV, D. Sinha, F. Seaman, JH Lewis, JA Spero, and PN Walsh. "Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds." Blood 65, no. 3 (1985): 719–24. http://dx.doi.org/10.1182/blood.v65.3.719.719.

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Abstract The relationship of clinical bleeding tendency and factor XI antigen (XI:Ag) in factor XI deficiency was studied in 78 members of 25 factor XI-deficient kindreds. Factor XI:Ag was measured in a competitive radioimmunoassay, using monospecific, heterologous anti-factor XI antibody. 125I-labeled factor XI, and staphylococcal protein A as the precipitating agent. Deficiency of factor XI clotting activity (XI:C), less than 0.62 U/mL, occurred in 48 individuals, 22 of whom experienced postoperative or posttraumatic bleeding: Their mean factor XI:C was 0.21 +/- 0.04 U/mL (SEM), and factor X

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41

Ragni, MV, D. Sinha, F. Seaman, JH Lewis, JA Spero, and PN Walsh. "Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds." Blood 65, no. 3 (1985): 719–24. http://dx.doi.org/10.1182/blood.v65.3.719.bloodjournal653719.

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The relationship of clinical bleeding tendency and factor XI antigen (XI:Ag) in factor XI deficiency was studied in 78 members of 25 factor XI-deficient kindreds. Factor XI:Ag was measured in a competitive radioimmunoassay, using monospecific, heterologous anti-factor XI antibody. 125I-labeled factor XI, and staphylococcal protein A as the precipitating agent. Deficiency of factor XI clotting activity (XI:C), less than 0.62 U/mL, occurred in 48 individuals, 22 of whom experienced postoperative or posttraumatic bleeding: Their mean factor XI:C was 0.21 +/- 0.04 U/mL (SEM), and factor XI:Ag was

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42

Au, W. Y., J. W. Cheung, C. C. K. Lam, and Y. L. Kwong. "Two factor XI mutations in a Chinese family with factor XI deficiency." American Journal of Hematology 74, no. 2 (2003): 136–38. http://dx.doi.org/10.1002/ajh.10396.

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43

Bolton-Maggs, P. H. B., D. A. Patterson, R. T. Wensley, and E. G. D. Tuddenham. "Definition of the Bleeding Tendency in Factor XI-Deficient Kindreds–A Clinical and Laboratory Study." Thrombosis and Haemostasis 73, no. 02 (1995): 194–202. http://dx.doi.org/10.1055/s-0038-1653750.

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SummaryIndividuals with severe factor XI deficiency are prone to excessive bleeding after injury or surgery, but the existence of a haemorrhagic tendency in partial factor XI deficiency is controversial. In this study, 172 members of 30 kindreds (20 non-Jewish) transmitting factor XI deficiency in North West England were interviewed and a bleeding history questionnaire completed. Blood was taken for coagulation assays. The questionnaires were categorised independently by two assessors to determine presence or absence of a bleeding tendency, in the absence of information about the factor XI lev

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44

Sucker, Christoph, Christof Geisen, and Jens Litmathe. "Two cases of Factor XI deficiency: Use of Thrombin Generation Assays (TGA) to detect a non-bleeding phenotype." Archive of Clinical Cases 11, no. 1 (2024): 1–4. http://dx.doi.org/10.22551/2024.42.1101.10277.

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Factor XI deficiency is a rare disorder of hemostasis. Previously also known as “hemophilia C”, this defect has been regarded as a risk factor for bleeding. However, it has been known for long that bleeding tendency and severity of bleeding are not related to the residual factor XI activity in symptomatic patients. Moreover, a large proportion of patients with even severe factor XI deficiency are clinically unremarkable and do not show any signs of abnormal bleeding. Here, we present two cases of factor XI deficiency with a non-bleeding phenotype. Adequate diagnostic work-up and evaluation of

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45

Choi, Sharon H., Stephanie A. Smith, and James H. Morrissey. "Polyphosphate is a cofactor for the activation of factor XI by thrombin." Blood 118, no. 26 (2011): 6963–70. http://dx.doi.org/10.1182/blood-2011-07-368811.

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Abstract Factor XI deficiency is associated with a bleeding diathesis, but factor XII deficiency is not, indicating that, in normal hemostasis, factor XI must be activated in vivo by a protease other than factor XIIa. Several groups have identified thrombin as the most likely activator of factor XI, although this reaction is slow in solution. Although certain nonphysiologic anionic polymers and surfaces have been shown to enhance factor XI activation by thrombin, the physiologic cofactor for this reaction is uncertain. Activated platelets secrete the highly anionic polymer polyphosphate, and o

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46

Hancock, JF, K. Wieland, RE Pugh, et al. "A molecular genetic study of factor XI deficiency." Blood 77, no. 9 (1991): 1942–48. http://dx.doi.org/10.1182/blood.v77.9.1942.1942.

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Abstract Factor XI deficiency is a rare bleeding diathesis found predominantly in Ashkenazi Jewish kindreds. A recent study of six Jewish patients identified three distinct mutations (Types I, II, and III) in the factor XI gene that were sufficient to fully define the genotypes of the patients. We have investigated 63 patients with factor XI deficiency and find overall allele frequencies of 44% for the type II mutation, 31% for the type III mutation, and 0% for the type I mutation. Therefore, 25% of the mutant factor XI alleles in our sample remain undefined. However, the distribution of mutan

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47

Hancock, JF, K. Wieland, RE Pugh, et al. "A molecular genetic study of factor XI deficiency." Blood 77, no. 9 (1991): 1942–48. http://dx.doi.org/10.1182/blood.v77.9.1942.bloodjournal7791942.

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Factor XI deficiency is a rare bleeding diathesis found predominantly in Ashkenazi Jewish kindreds. A recent study of six Jewish patients identified three distinct mutations (Types I, II, and III) in the factor XI gene that were sufficient to fully define the genotypes of the patients. We have investigated 63 patients with factor XI deficiency and find overall allele frequencies of 44% for the type II mutation, 31% for the type III mutation, and 0% for the type I mutation. Therefore, 25% of the mutant factor XI alleles in our sample remain undefined. However, the distribution of mutant alleles

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48

Kravtsov, Dmitri V., Wenman Wu, Joost C. M. Meijers, et al. "Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain." Blood 104, no. 1 (2004): 128–34. http://dx.doi.org/10.1182/blood-2003-10-3530.

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Abstract The bleeding diathesis associated with hereditary factor XI (fXI) deficiency is prevalent in Ashkenazi Jews, in whom the disorder appears to be an autosomal recessive condition. The homodimeric structure of fXI implies that the product of a single mutant allele could confer disease in a dominant manner through formation of heterodimers with wild-type polypeptide. We studied 2 unrelated patients with fXI levels less than 20% of normal and family histories indicating dominant disease transmission. Both are heterozygous for single amino acid substitutions in the fXI catalytic domain (Gly

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49

Drakulic, Milana, Chatree Chai-Adisaksopha, and Alfonso Iorio. "Clinical and Biological Determinants of Bleeding Manifestation in Congenital Factor XI Deficiency; A Systematic Review." Blood 128, no. 22 (2016): 1407. http://dx.doi.org/10.1182/blood.v128.22.1407.1407.

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Abstract Background: Congenital factor XI (FXI) deficiency is a rare inherited bleeding disorder caused by mutation of the FXI gene. Clinical manifestation and bleeding severity of FXI deficiency are varied. To our best knowledge, there are no studies investigating the predictors of bleeding in these patient population. Our study aims to investigate the clinical presentation of congenital FXI deficiency and to identify clinical, biological, and genetic determinants of bleeding. Methods: We conducted a systematic search in MEDLINE and EMBASE databases from inception to March 2016. We included t

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50

Clarkson, Kevin. "Factor XI Deficiency Acquired by Liver Transplantation." Annals of Internal Medicine 115, no. 11 (1991): 877. http://dx.doi.org/10.7326/0003-4819-115-11-877.

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