La tunisie Medicale - 2022 ; Vol 100 ( n°01 ) : 60-65
[ 756 times seen ]

Introduction: Factor XI deficiency is a rare coagulation disorder with variable bleeding manifestations.
Aim : To evaluate the correlation between the degree of factorXI deficiency and the clinical expression of the disease.
Methods: Retrospective study, spanning 10 years from January 1, 2010 to December 31, 2019, concerning patients followed at the Hemophilia Center at Aziza Othmana Hospital in Tunis. The data were collected from the medical records. The determination of PT, APTT, fibrinogen level and coagulation factors are performed by coagulometric technique on STA® compact / ACL TOP®. FactorXI deficiency was confirmed on two different samples. Statistical analysis of the clinical-biological correlation was performed using the chi-square test. The significance level was 0.05.
Results: Twenty patients were collected. The mean age of discovery was 25 years with a sex ratio (M/F) =0.33. The circumstances of discovery were incidental in 14 patients. A family history of bleeding was reported in 30% of cases. Eight patients underwent surgery, six of whom had a simple postoperative course. The APTT was prolonged and isolated in 75% of cases. The hemostasis test was normal in 5 cases. The average FactorXI level was 24%. The tendency to bleed did not seem to be correlated with FactorXI levels.
Conclusion: Prospective multicenter studies including molecular study would be necessary to better elucidate this rare disorder.

Key - Words
  1. Rosenthal RL, Dreskin OH, Rosenthal N. New hemophilia-like disease caused bydeficiency of a third plasma thromboplastin factor. Proceedings of the Society for 12Experimental Biology and Medicine Society for Experimental Biology and Medicine (New-York, NY).1953;82(1):171-4.
  2. Wheeler AP, Gailani D. Why factor XI deficiency is a clinical concern.ExpertRevHematol. 2016 ;9(7) :629-37.
  3. Emmanuelle de R, Frédéric B, Brigitte P-P, Jenny G. Déficiten facteur XI.Hématologie. 2010;16(4):284-92.
  4. O’Connell N M. Factor XI deficiency. Seminars in hematology.2004;41(1 Suppl1):76-81.
  5. Bolton-Maggs PH, Peretz H, Butler R, Mountford R, Keeney S,Zacharski L. A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. Journal of thrombosis and haemostasis: JTH. 2004;2(6):918-24.
  6. Santoro R, Prejano S, Iannaccaro P. Factor XI deficiency: a description of 34 cases and literature review. Blood coagulation & fibrinolysis: an international journal inhaemostasis and thrombosis. 2011 ;22(5) :431-5.
  7. Bauduer F, Dupreuilh F, Ducout L, Marti B. Factor XI deficiency in the French Basque Country. Haemophilia: the official journal of the World Federation of Hemophilia.1999;5(3):187-90.
  8. Tiscia GL, Favuzzi G, Lupone MR, Cappucci F, Schiavulli M, Mirabelli V. Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novelmutation and genotype-phenotype relationship. Hum Genome Var. 2017; 4:17043-.
  9. Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG. Definition of thebleeding tendency in factor XI-deficient kindreds- -a clinical and laboratory study. Thrombosis andhaemostasis. 1995;73(2):194-202.
  10. Duga S, Salomon O. Factor XI Deficiency. Seminars in thrombosis and hemostasis. 2009 ;35(4) :416-25.
  11. Santoro C, Di Mauro R, Baldacci E, De Angelis F, Abbruzzese R, Barone F. Bleeding phenotype and correlation with factor XI (FXI) activity in congenital FXI deficiency: resultsof a retrospective study from a single centre. Haemophilia: the official journal of the WorldFederation of Hemophilia. 2015 ;21(4) :496-501.
  12. Castaman G, Giacomelli SH, Caccia S, Riccardi F, Rossetti G, Dragani A. Thespectrum of factor XI deficiency in Italy. Haemophilia: the official journal of the WorldFederation of Hemophilia. 2014;20(1):106-13
  13. Kadir RA, Economides DL, Lee CA. Factor XI deficiency in women.American journal of hematology. 1999;60(1):48-54.
  14. 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: the official journal of the World Federation ofHemophilia. 2006;12(5):490-3.
  15. Salomon O, Steinberg DM, Tamarin I, Zivelin A, Seligsohn U. Plasma replacementtherapy during labor is not mandatory for women with severe factor XI deficiency. Bloodcoagulation &fibrinolysis: an international journal in haemostasis and thrombosis. 2005;16(1):37-41
  16. 16. Puetz J, Hugge C, Moser K. Normal aPTT in children with mild factor XI deficiency. Pediatric blood & cancer. 2018 ;65(4) : e26910.
  17. Eloit Y, Smahi M, Fischer F, Appert-Flory A, Jambou D, Toulon P. Sensibilité invitro de différents réactifs de TCA et de TP aux déficits isolés en facteurs de la coagulation. http:// sensibilites_aux_facteurs_geht_2013.pdf
  18. Fritsma GA, Dembitzer FR, Randhawa A, Marques MB, Van Cott EM, Adcock-Funk D. Recommendations for appropriate activated partial thromboplastin time reagentselection and utilization. American journal of clinical pathology. 2012 ;137(6) :904-8
  19. H47-A2, (CLSI) One-stage prothrombin (PT) test and activated partial : Clinical and Laboratory Standards Institute ; May 2008 Vol28 No20
  20. Seligsohn U. Factor XI deficiency in humans. Journal of thrombosis and haemostasis:JTH. 2009;7Suppl 1:84-7.
  21. 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. Thrombosisand haemostasis. 2011;105(2):269-73
  22. Asakai R, Davie EW, Chung DW. Organization of the gene for human factor XI.Biochemistry. 1987;26(23):7221-8.
  23. Saunders RE, O’Connell NM, Lee CA, Perry DJ, Perkins SJ. Factor XI deficiencydatabase: an interactive web database of mutations, phenotypes, and structural analysis tools. Human mutation. 2005;26(3):192-8.
  24. James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding disorders – bleedingassessment tools, laboratory aspects and phenotype and therapy of FXI deficiency.Haemophilia: the official journal of the World Federation of Hemophilia. 2014 ;20 Suppl 4:71-5.
  25. Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Grainger J. Guideline for the diagnosis and management of the rare coagulation disorders: A United KingdomHaemophilia Centre Doctors; Organization guideline on behalf of the British Committeefor Standards in Haematology. British journal of haematology. 2014;167(3):304- 26.
  26. Liv nat 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. Thrombosis and haemostasis. 2009 ; 102(3) :487-92.
  27. Bolton-Maggs PH, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, et al. The rare coagulation disorders- -review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation. Haemophilia : the official journal of the World Federation of Hemophilia. 2004;10(5):593-628.
E-mail :
Password :
Remember Me Forgot password? Sign UP
Keywords most used
Child treatment diagnosis surgery Tunisia prognosis Children Crohn’s disease Breast cancer screening Cancer epidemiology Ulcerative colitis mammography Risk factors
Sign up to receive our newsletter
E-mail :
Stay in Touch
Join Us! !