Factor XII (Hageman) deficiency in obstetric practice: analysis of two cases: 616.151.5

Abstract

Summary. Hereditary factor XII deficiency (Hageman trait) is a genetically determined disease characterized by a decrease in the activity of blood coagulation factor XII. The disease is rare (about 1 per 1 million of the population), inherited predominantly in an autosomal recessive manner, but in single severe cases, an autosomal dominant type of inheritance is revealed. The question of prophylactic replacement therapy in patients with hereditary factor XII deficiency during surgical interventions remains open. We present 2 delivery cases in patients with hereditary Hageman factor deficiency without replacement therapy with fresh frozen plasma, discuss the role of this factor in in vivo hemostasis, and the use of integral tests at this state.

References:

1. Ratnoff O.D., Colopy J.E. A familial hemorrhagic trait associated with a deficiency of a clot‐promoting fraction of plasma. J Clin Invest. 1955;34(4):602–13. DOI: 10.1172/JCI1031098. 

2. Ratnoff O.D., Busse R.J., Sheon R.P. The demise of John Hageman. N Engl J Med. 1968;279:760–1. DOI: 10.1056/NEJM196810032791407. 

3. Macfarlane R.G. A clotting scheme for 1964. Thromb Diath Hae- 
morrh Suppl. 1965;(17):45–52. 

4. Müller F., Gailani D., Renné T. Factor XI and XII as antithrom‐ 
botic targets. Curr Opin Hematol. 2011;18(5):349–55. DOI: 10.1097/ 
0b013e3283497e61. 

5. De Moerloose P., Casini A., Neerman‐Arbez M. Congenital fibri‐ 
nogen disorders: an update. Semin Thromb Hemost. 2013;39(6):585– 
 DOI: 10.1055/s‐0033–1349222. 

6. Morita K., Ono Y., Takeshita T. et al. Risk factors and outcomes 
of recurrent pregnancy loss in Japan. J Obstet Gynaecol Res. 
2019;45(10):1997–2006. DOI: 10.1111/jog.14083. 

7. Ozgu‐Erdinc A.S., Togrul C., Aktulay A. et al. Factor XII (Hage‐ 
man) levels in women with recurrent pregnancy loss. J Pregnancy. 
2014;2014;459192. DOI: 10.1155/2014/459192. 

8. Dendrinos S., Deliveliotou A., Anastasiou A., Creatsas G.K. Role of 
coagulation factor XII in unexplained recurrent abortions in the 
Greek population. J Reprod Med. 2014;59(1–2):56–62. 

9. Petrukhin V.A., BuyanovaS.N., MelnikovA.P. et al. Pregnancy management and delivery in patients with Hageman’s disease. Rossijskij vestnik akushera-ginekologa. 2015;15(3):56–8. (In Russ.). 

10. Chaudhry L.A., El‐Sadek W.Y.M., Chaudhry G.A., Al‐Atawi F.E. Fac‐ tor XII (Hageman factor) deficiency: a rare harbinger of life threat‐ ening complications. Pan Afr Med J. 2019;33:39. DOI: 10.11604/ 
2019.33.39.18117. 

11. Maruyama H., Brooks M.B., Stablein A., Frye A. Factor XII defi‐ 
ciency is common in domestic cats and associated with two high frequency F12 mutations. Gene. 2019;706:6–12. DOI: 10.1016/j. gene.2019.04.053. 
12. BarkaganZ.S., MomotA.P.Diagnostics and controlled therapy of hemostasis disorders. Moscow: N’yudiamed, 2008. 283 pp. (In Russ.).

1. Drozdov A.A., Drozdova M.V. Blood diseases. Complete reference. Saratov: Nauchnaya kniga, 2019. 370 pp. (In Russ.).
2. Akhmedov V.A., Shadevsky V.M., Sudakova A.N. et al. Rare clini‐ cal case of Hageman disease in the patient of the cardiological department. RMZh. 2018;(6):46–8. (In Russ.).
3. Vorobyeva N.A., Elizarov M.V., Averyanova A.V. et al. Periope‐ rative management of cardiac patient with hereditary factor XII Anesteziologiya i reanimatologiya. 2019;(3):97–104. DOI: 10.17116/anaesthesiology201903197. (In Russ.).
4. Zeerleder S., Schloesser M., Redondo M. et al. Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency — a study on 73 subjects from 14 Swiss families. Thromb Haemost. 1999;82(4):1240–6.
5. Girolami A., Ferrari S., Cosi E., Luigia Randi M.L. Heterozygous FXII deficiency is not associated with an increased incidence of thrombotic events: results of a longterm study. Blood Cells Mol Dis. 2019;77:8–11. DOI: 10.1016/j.bcmd.2019.03.001.
6. Cei M., Mumoli N., Giuntoli S. at al. Concomitant ST‐elevation myocardial infarction and deep vein thrombosis in a patient with severe factor XII deficiency: case report and review of the litera‐ Q J Med. 2011;104(12):1083–6. DOI: 10.1093/qjmed/hcq221.
7. Müller F., Gailanid D., Renné T. Factor XI and XII as antithrom‐ botic targets. Curr Opin Hematol. 2011;18(5):349–55. DOI: 10.1097/ 0b013e3283497e61.