Factor XI deficiency as a clinical problem in labor - a case report
DOI:
https://doi.org/10.12775/JEHS.2022.12.06.009Keywords
pregnancy, childbirth, factor XI deficiency in a pregnant patientAbstract
Hereditary factor XI deficiency has been a mystery since its discovery in 1953. The most common mild symptoms in patients with the most severe form do not match the abnormalities in standard clotting tests. The contribution of factor XI to hemostasis is not adequately assessed in modern clinical laboratories.
How does factor XI deficiency contribute to changes in blood clotting patterns, what is the genetics of this condition, and the relationship between its deficiency and bleeding? A new approach of gynecologists to childbirth in patients with factor XI deficiency. This article describes the case of a pregnant woman with hemophilia C.
References
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.
Duga S, Salomon O. Congenital factor XI deficiency: an update. Sem Thromb Hemost. 2013;39:621–31.
Mumford AD, Ackroyd S, Alikhan R, et al. Guideline for the diagnosis and management of the rare coagulation disorders: A United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2014;167:304–26.
Gailani D, Neff AT. Rare coagulation factor deficiencies. In: Hoffman R, Nenz EJ, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, editors. Hematology: basic principles and practice. 6. Saunders-Elsevier; 2010. pp. 1939–52
Santoro C, Di Mauro R, Baldacci E, et al. Bleeding phenotype and correlation with factor XI (FXI) activity in congenital FXI deficiency: results of a retrospective study from a single centre. Haemophilia. 2015;21:496–501
Kadir RA, Economides DL, Lee CA. Factor XI deficiency in women. Am J Hematol. 1999;60:48–54
Mumford AD, Ackroyd S, Alikhan R, et al. Guideline for the diagnosis and management of the rare coagulation disorders: A United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol. 2014;167:304–26
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. Patients with severe fXI deficiency do not inevitably bleed with surgery. This paper describes clinical situations in which factor replacement can be avoided in fXI deficient patients because of the low risk of bleeding
Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG. Definition of the bleeding tendency in factor XI-deficient kindreds: a clinical and laboratory study. Thromb Haemot. 1995;73:194–202
Doolittle RF. Step-by-step evolution of vertebrate coagulation. Cold Spring Harb Symp Quant Biol. 2009;74:35–40.
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;90:2654–9.
Geng Y, Verhamme IM, Sun MF, Bajaj SP, Emsley J, Gailani D. Analysis of the factor XI variant Arg184Gly suggests a structural basis for factor IX binding to factor XIa. J Thromb Haemost. 2013;11:1374–84.
Kravtsov DV, Matafonov A, Tucker EI, et al. Factor XI contributes to thrombin generation in the absence of factor XII. Blood. 2009;114:452–8.
Geng Y, Verhamme I, Smith SB, Sun MF, Matafonov A, Cheng Q, Smith SA, Morrissey JH, Gailani D. The dimeric structure of factor XI and zymogen activation. Blood. 2013;121:3962–3969.
Colucci M, Incampo F, Cannavò A, Menegatti M, Siboni SM, Zaccaria F, Semeraro N, Peyvandi F. Reduced fibrinolytic resistance in Patients with FXI deficiency. Evidence of a thrombin-independent impairment of the TAFI pathway. J Thromb Haemost. in press.
Bane CE, Ivanov I, Matafonov A, et al. Factor XI deficiency alters the cytokine response and activation of contact proteases during polymicrobial sepsis in mice. PLOS. 2016;11:e0152968.
Riddell A, Abdul-Kadir R, Pollard D, Tuddenham E, Gomez K. Monitoring low dose recombinant factor VIIa therapy in patients with severe factor XI deficiency undergoing surgery. Thromb Haemost. 2011;106:521–7.
Seligsohn U. Factor XI deficiency in humans. J Thromb Haemost. 2009;7(Suppl 1):84–7.
Laskin CA, Spitzer KA, Clark CA, Crowther MR, Ginsberg JS, Hawker GA, et al. Low molecular weight heparin and aspirin for recurrent pregnancy loss: results from the randomized, controlled HepASA Trial. J Rheumatol 2009;36:279–87.
Younis JS, Brenner B, Ohel G, Tal J, Lanir N, Ben-Ami M. Activated protein C resistance and factor V Leiden mutation can be associated with first-as well as second-trimester recurrent pregnancy loss. Am J Reprod Immunol 2000;43:31–5.
Grandone E, De Stefano V, Rossi E, Cappucci F, Colaizzo D, Margaglione M. Antithrombotic
prophylaxis during pregnancy in women with deficiency of natural anticoagulants. Blood Coagul Fibrinolysis 2008;19:226–30.
Ramidi G, Khan N, Glueck CJ, Wang P, Goldenberg N. Enoxaparin-metformin and enoxaparin alone may safely reduce pregnancy loss. Transl Res 2009;153:33–43.
Lindhoff-Last E, Kreutzenbeck HJ, Magnani HN. Treatment of 51 pregnancies with danaparoid because of heparin intolerance. Thromb Haemost 2005;93:63–9.
Qublan H, Amarin Z, Dabbas M, Farraj AE, Beni- Merei Z, Al-Akash H, et al. Low-molecular-weight heparin in the treatment of recurrent IVF-ET failure and thrombophilia: a prospective randomized placebo-controlled trial. Hum Fertil (Camb) 2008;11:246–53.
Kaandorp S, Di Nisio M, Goddijn M, Middeldorp S. Aspirin or anticoagulants for treating recurrent miscarriage in women without antiphospholipid syndrome. Cochrane Database Syst Rev 2009: CD004734.
Irish AB. Plasminogen activator inhibitor-1 activity in chronic renal disease and dialysis. Metabolism 1997;46:36–40.
Empson M, Lassere M, Craig JC, Scott JR. Recurrent pregnancy loss with antiphospholipid antibody: a systematic review of therapeutic trials. Obstet Gynecol 2002;99:135–44.
Younis JS, Ohel G, Brenner B, Haddad S, Lanir N, Ben-Ami M. The effect of thrombophylaxis on pregnancy outcome in patients with recurrent regnancy loss associated with factor V Leiden mutation. Br J Obstet Gynaecol 2000;107:415–9.
Bazzan M, Donvito V. Low-molecular-weight heparin during pregnancy. Thromb Res 2001;101:V175–86.
Sullivan AE, Silver RM, LaCoursiere DY, Porter TF, Branch DW. Recurrent fetal aneuploidy and recurrent miscarriage. Obstet Gynecol 2004;104:784–8.
Dizon-Townson DS, Meline L, Nelson LM, Varner M, Ward K. Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction. Am J Obstet Gynecol 1997;177:402–5.
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