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 the management of pregnant women with factor XI deficiency.
Walsh PNRoles of platelets and factor XI in the initiation of blood coagulation by thrombin. Thromb Haemost. 2001;86:75-82.
2.
Gailani D., Ho D., Sun MF, Cheng Q., Walsh PNModel for a factor IX activation complex on blood platelets: dimeric conformation of factor XIa is essential. Blood. 2001;97:3117-3122.
3.
Salomon O., Seligsohn U.New observations on factor XI deficiency. Haemophilia . 2004;10(suppl 4):184-187.
4.
Rosenthal RL , Dreskin OH, Rosenthal N.New haemophilia disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med. 1953;82:171-174.
Saunders RE, O’Connell NM, Lee CA, Perry DJ, Perkins SJFactor XI deficiency database: an interactive web database of mutations, phenotypes and structural analysis tools. Hum Mutat. 2005;26:192-198.
7.
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 recentEuropean origin. Blood. 1997 ;90:2654-2659.
8.
Kadir RA, Kingman CE, Chi C., et al. Screening for factor XI deficiency amongst pregnant women of Ashkenazy Jewish origin. Haemophilia. 2006 ;12:625-628.
9.
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.
10.
Kravtsov D. , Wu W., Meijers J., et al. Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. Blood. 2004;104:128-134.
11.
Bolton-Maggs PHB.Bleeding problems in factor XI deficient women . Haemophilia. 1999;5:155-159.
12.
Bolton-Maggs PHB.Factor XI deficiency and its management . Haemophilia. 2000;6:100-109.
13.
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;12:490-493.
14.
Peyvandi F. , Lak M., Mannucci PMFactor XI deficiency in Iranians, its clinical manifestations in comparison to those of classic hemophilia. Haematologica. 2002;87: 512-514.
15.
Kadir RA, Economides DL, Lee CAFactor XI deficiency in women. Am J Hematol. 1999;60:48-54.
16.
Bolton-Maggs PHB.The management of factor XI deficiency. Haemophilia. 1998;4:683-688.
17.
Weiss HJLow factor VIII levels are a risk factor for bleeding in patients with factor XI deficiency. J Thromb Haemost. 2005;3:181-182.
18.
Brenner B., Laor A., Lupo H., Zivelin A., Lanir N., Seligsohn U.Bleeding predictors in factor XI deficient patients. Blood Coagul Fibrinolysis. 1997;8:511-515.
19.
Gomez K., Bolton-Maggs P.Factor XI deficiency. Haemophilia. 2008; Feb 27.[Epub ahead of print].
20.
Bolton-Maggs PHB , Perry DJ, Chalmers EA, et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors Organisation. Haemophilia. 2004;10: 593-628.
21.
David AL, Paterson-Brown S., Letsky EAFactor XI deficiency presenting in pregnancy: diagnosis and management . Br J Obstet Gynaecol. 2002;109:840-843.
22.
Aledort LM, Goudemand J., and the Hemoleven Study Group.United States factor XI-deficiency patients need a safer treatment. Am J Hematol. 2005;80:301-302.
23.
Schulman S. , Nemeth G.An illustrative case and a review on the dosing of recombinant factor VIIa in congenital factor XI deficiency . Haemophilia. 2006;12:223-227.
24.
Brown SAWhat dose of recombinant activated factor VII should be used in patients with factor XI deficiency? Haemophilia. 2005 ;11:430-431.
25.
Franchini M. , Girancoli M., Lippi G., Manzato F., Aprili G., Gandini G.Prophylactic use of desmopressin in surgery of six patients with symptomatic heterozygous factor XI deficiency. Haematologica. 2000 ;85:106-107.
26.
O’Connell NMFactor XI deficiency-from molecular genetics to clinical management. Blood Coagul Fibrinolysis. 2003;14(suppl 1):59-64.
27.
Bolton-Maggs P., Patterson D., Wensley R., Tuddenham E.Definition of the bleeding tendency in factor XI-deficient kindreds-a clinical and laboratory study. Thromb Haemost. 1995;73:194-202.
28.
Kadir R., Lee C., Sabin C., Pollard D., Economides D.Pregnancy in women with von Willebrand disease or Factor XI deficiency . Br J Obstet Gynaecol. 1998;105: 314-321.
29.
Salomon O., Steinberg D., Tmarin I., Zivelin A., Seligsohn U.Plasma replacement therapy during labour is not mandatory for women with severe factor XI deficiency. Blood Coagul Fibrinolysis . 2005;16:37-41.
30.
Lee CA, Chi C., Pavord SR, et al, and the UK Haemophilia Centre Doctors’ Organization.The obstetric and gynaecological management of women with inherited bleeding disorders-review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors’ Organization. Haemophilia. 2006;12:331-336.
31.
Myers B., Pavord S., Kean L., Hill M., Dolan G.Pregnancy outcome in factor XI deficiency: incidence of miscarriage, antenatal and postnatal haemorrhage in 33 women with factor XI deficiency . BJOG. 2007;114:643-646.
32.
Tavori S., Brenner B., Tatarsky I.The effect of combined factor XI deficiency with von Willebrand factor abnormalities on haemorrhagic diathesis. Thromb Haemost. 1990;63:36-38.
33.
Martin-Salces M., Jimenez-Yuste V., Alvarez MT, Quintana M., Hernandez-Navarro F.Management of the delivery in pregnant women with severe factor XI deficiency. Acta Haematol . 2008;119:154-155.
