Are we to pay attention to factor XII deficiency?

Česká verzia

Authors: Anna Remková ¹; Milan Remko ²
Authors place of work: I. interná klinika Dionýza Diešku LF Slovenskej zdravotníckej univerzity Bratislava, Slovenská republika, prednosta prof. MUDr. Štefan Hrušovský, CSc., DrSVS. ; Farmaceutická fakulta UK Bratislava, Slovenská republika, dekan prof. PharmDr. Pavel Mučaji, PhD. ²
Published in the journal: Vnitř Lék 2015; 61(Suppl 5): 63-66
Category: Reviews

Summary

Severe coagulation factor XII (FXII) deficiency is a very rare, mysterious and not well known inherited condition. Unlike other coagulation factor deficiencies, it is totally asymptomatic. Surprisingly, it does not lead to abnormal bleeding, even with major surgical procedures. The explanation for the lack of bleeding manifestations is unknown. It is suggested, but unproven, that patients are not sufficiently protected from thrombosis. FXII deficiency is usually discovered by accident through a routine coagulation testing done prior to surgery. Since FXII plays an important role in clot formation during in vitro measurements, its deficiency causes a marked prolongation of the activated partial thromboplastin time in the laboratory examination. The main concern related to FXII deficiency is the unnecessary testing, delay in health care and worry of surgical interventions that may be prompted by the abnormal laboratory result.

Key Words:
activated partial thromboplastin time – bleeding – blood coagulation – factor XII

Zdroje

1. Gordon EM, Gallagher CA, Johnson TR et al. Hepatocytes express blood coagulation factor XII (Hageman factor). J Lab Clin Med 1990; 115(4): 463–469.

2. Pathak M, Wilmann P, Awford J et al. Coagulation factor XII protease domain crystal structure. J Thromb Haemost 2015; 13(4): 580–591.

3. Stavrou E, Schmaier AH. Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis and thrombosis. Thromb Res 2010; 125(3): 210–215.

4. Beringer DX, Kroon-Batenburg LM. The structure of the FnI-EGF-like tandem domain of coagulation factor XII solved using SIRAS. Acta Crystallogr Sect F Struct Biol Cryst Commun 2013; 69(Pt 2): 94–102.

5. Cool DE, MacGillivray RT. Characterization of the human blood coagulation factor XII gene. Intron/exon gene organization and analysis of the 5’-flanking region. J Biol Chem 1987; 262(28): 13662–13673.

6. Royle NJ, Nigli M, Cool D et al. Structural gene encoding human factor XII is located at 5q33-qter. Somat Cell Mol Genet 1988; 14(2): 217–221.

7. Müller F, Mutch, NJ, Schenk WA et al. Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo. Cell 2009; 139(6): 1143–1156.

8. Renné T, Schmaier AH, Nickel KF et al. In vivo roles of factor XII. Blood 2012; 120(22): 4296–4303.

9. Kuijpers MJE, van der Meijden PEJ, Feijge MAH et al. Factor XII regulates the pathological process of thrombus formation on ruptured plaques. Arterioscler Thromb Vasc Biol 2014; 34(8): 1674–1680.

10. Woodruff RS, Sullenger B, Becker RC. The many faces of the contact pathway and their role in thrombosis. J Thromb Thrombolysis 2011; 32(1): 9–20.

11. Halbmayer WM, Haushofer A, Radek J et al. Prevalence of factor XII (Hageman factor) deficiency among 426 patients with coronary heart disease awaiting cardiac surgery. Coron Artery Dis 1994; 5(5): 451–454.

12. Halbmayer WM, Haushofer A, Schon R et al. The prevalence of moderate and severe FXII (Hageman factor) deficiency among the normal population: evaluation of the incidence of FXII deficiency among 300 healthy blood donors. Thromb Haemost 1994; 71(1): 68–72.

13. Ratnoff OD, Margolius A. Hageman trait: an asymptomatic disorder of blood coagulation. Trans Assoc Am Physicians 1955; 68: 149–154.

14. Jones DW, Gallimore MJ, Winter M- Pseudo factor XII deficiency and phospholipid antibodies. Thromb Haemost 1996; 75(4): 696–697.

15. Wagenman BL, Townsend KT, Mathew P et al. The laboratory approach to inherited and acquired coagulation factor deficiencies. Clinics Lab Med 2009; 29(2): 229–252.

16. Winter M, Gallimore M, Jones DW. Should factor XII assays be included in thrombophilia screening? Lancet 1995; 346(8966): 52.

17. Dragoumanis C, Vretzakis G, Vogiatzaki T. Perioperative management of a patient with severe factor XII deficiency. Eur J Anaesthesiol 2004; 21(10): 829–830.

18. Koster T, Rosendaal FR, Briet E et al. John Hageman’s factor and deep-vein thrombosis: Leiden thrombophilia Study. Br J Haematol 1994; 87(2): 422–424.

19. 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): 1240–1246.

20. Girolami A, Simioni P, Scarano L et al. Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. J Thromb Thrombolysis 2000; 9(3): 271–275.

21. Girolami A, Randi ML, Gavasso S et al. The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature. J Thromb Thrombolysis 2004; 17(2): 139–143.

22. Renné T, Gailani D. Role of Factor XII in hemostasis and thrombosis: clinical implications. Expert Rev Cardiovasc Ther 2007; 5(4): 733–741.

23. Matsuura T, Kobayashi T, Asahina T et al. Is factor XII deficiency related to recurrent miscarriage? Semin Thromb Hemost 2001; 27(2): 115–120.

24. Pauer HU, Burfeind P, Kostering H et al. Factor XII deficiency is strongly associated with primary recurrent abortions. Fertil Steril 2003; 80(3): 590–594.

25. Schved JF, Gris JC, Neveu S et al. Factor XII congenital deficiency and early spontaneous abortion. Fertil Steril 1989; 52(2): 335–336.

26. Yamada H, Kato EH, Ebina Y et al. Factor XII deficiency in women with recurrent miscarriage. Gynecol Obstet Invest 2000; 49(2): 80–83.