Congenital fibrinogen disorders

Seminars in Thrombosis and Hemostasis

Volumn 35, Issue 4, 2009, Pages 356-366

  De Moerloose, Philippe ^a,c   Neerman Arbez, Marguerite ^a,b  

^a UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Afibrinogenemia; Bleeding disorder; Dysfibrinogenemia; Fibrinogen; Hypofibrinogenemia

Indexed keywords

FIBRINOGEN; FIBRINOGEN CONCENTRATE; FRESH FROZEN PLASMA; UNCLASSIFIED DRUG;

AFIBRINOGENEMIA; ARTERY THROMBOSIS; BLEEDING TENDENCY; CLINICAL FEATURE; CRYOPRECIPITATE; DYSFIBRINOGENEMIA; FIBRINOGEN DEFECT; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOFIBRINOGENEMIA; MENORRHAGIA; PLASMA TRANSFUSION; PRIORITY JOURNAL; REVIEW; THROMBOEMBOLISM; THROMBOSIS;

AFIBRINOGENEMIA; BLOOD COAGULATION TESTS; FEMALE; FIBRINOGEN; GENOTYPE; HEMORRHAGIC DISORDERS; HUMANS; INFANT, NEWBORN; PHENOTYPE; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PRENATAL DIAGNOSIS; RISK; THROMBOSIS;

EID: 67749099617     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0029-1225758     Document Type: Review

References (54)

1. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995;73:151-161
2. Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999;107:204-206 (Pubitemid 29500827)
3. Acharya SS, Coughlin A, Dimichele D; MNorth American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004; 2:248-256
4. 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
5. Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost 2006;4: 1634-1637 (Pubitemid 43919200)
6. McDonagh J. Dysfibrinogenemia and other disorders of fibrinogen structure or function. In: Colman R, Hirsh J, Marder V, Clowes A, George J, eds. Hemostasis and Thrombosis. Basic Principles and Clinical Practice. Philadelphia, PA: Lippincott Williams & Wilkins; 2001:855-892
7. Maghzal GJ, Brennan SO, Homer VM, George PM. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004;61:1427-1438
8. Neerman-Arbez M, de Moerloose P. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. Hum Mutat 2007;28:540-553 (Pubitemid 46744284)
9. Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann N Y Acad Sci 2001;936:11-30 (Pubitemid 32613890)
10. Kant JA, Fornace AJ Jr, Saxe D, Simon MI, McBride OW, Crabtree GR. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci U S A 1985; 82:2344-2348 (Pubitemid 15064484)
11. Fuller GM, Zhang Z. Transcriptional control mechanism of fibrinogen gene expression. Ann N Y Acad Sci 2001;936: 469-479 (Pubitemid 32613932)
12. Mosesson MW. Hereditary fibrinogen abnormalities. In: Lichtman MA, Beutler E, Kaushansky K, Kipps TJ, Seligsohn U, Prchal J, eds. Williams Hematology, 7th ed. New York, NY: McGraw-Hill; 2005:1909-1927
13. Rabe F, Salomon E. Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch Intern Med 1920;95:2-14
14. Peyvandi F, Kaufman RJ, Seligsohn U, et al. Rare bleeding disorders. Haemophilia 2006;12(Suppl 3):137-142
15. Ehmann WC, al-Mondhiry H. Congenital afibrinogenemia and splenic rupture. Am J Med 1994;96:92-94 (Pubitemid 124002549)
16. Suh TT, Holmbäck K, Jensen NJ, et al. Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. Genes Dev 1995;9:2020-2033
17. Iwaki T, Sandoval-Cooper MJ, Paiva M, Kobayashi T, Ploplis VA, Castellino FJ. Fibrinogen stabilizes placental-maternal attachment during embryonic development in the mouse. Am J Pathol 2002;160:1021-1034 (Pubitemid 34224590)
18. Dupuy E, Soria C, Molho P, et al. Embolized ischemic lesions of toes in an afibrinogenemic patient: possible relevance to in vivo circulating thrombin. Thromb Res 2001; 102:211-219 (Pubitemid 32441709)
19. Girolami A, Ruzzon E, Tezza F, Scandellari R, Vettore S, Girolami B. Arterial and venous thrombosis in rare congenital bleeding disorders: a critical review. Haemophilia 2006;12:345-351
20. De Marco L, Girolami A, Zimmerman TS, Ruggeri ZM. von Willebrand factor interaction with the glycoprotein IIb/IIa complex. Its role in platelet function as demonstrated in patients with congenital afibrinogenemia. J Clin Invest 1986; 77:1272-1277 (Pubitemid 16047149)
21. Korte W, Feldges A. Increased prothrombin activation in a patient with congenital afibrinogenemia is reversible by fibrinogen substitution. Clin Investig 1994;72:396-398 (Pubitemid 24171930)
22. de Bosch NB, Mosesson MW, Ruiz-Sáez A, Echenagucia M, Rodriguez-Lemoin A. Inhibition of thrombin generation in plasma by fibrin formation (antithrombin I). Thromb Haemost 2002;88:253-258 (Pubitemid 34873706)
23. Mosesson MW, Antithrombin I. Antithrombin I. Inhibition of thrombin generation in plasma by fibrin formation. Thromb Haemost 2003;89:9-12 (Pubitemid 36149786)
24. Ni H, Denis CV, Subbarao S, et al. Persistence of platelet thrombus formation in arterioles of mice lacking both von Willebrand factor and fibrinogen. J Clin Invest 2000;106: 385-392 (Pubitemid 30655638)
25. Remijn JA, Wu Y-P, Ijsseldijk MJ, Zwaginga JJ, Sixma JJ, de Groot PG. Absence of fibrinogen in afibrinogenemia results in large but loosely packed thrombi under flow conditions. Thromb Haemost 2001;85:736-742
26. Henselmans JM, Meijer K, Haaxma R, Hew J, van der Meer J. Recurrent spontaneous intracerebral hemorrhage in a congenitally afibrinogenemic patient: diagnostic pitfalls and therapeutic options. Stroke 1999;30:2479-2482 (Pubitemid 29517751)
27. Brennan SO, Wyatt J, Medicina D, Callea F, George PM. Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly - > Arg mutation. Am J Pathol 2000;157:189-196 (Pubitemid 30641736)
28. Brennan SO, Maghzal G, Shneider BL, Gordon R, Magid MS, George PM. Novel fibrinogen gamma375 Arg - > Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36:652-658
29. Dib N, Quelin F, Ternisien C, et al. Fibrinogen angers with a new deletion (gamma GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007;5: 1999-2005
30. Hayes T. Dysfibrinogenemia and thrombosis. Arch Pathol Lab Med 2002;126:1387-1390
31. Colvin RB, Mosesson MW, Dvorak HF. Delayed-type hypersensitivity skin reactions in congenital afibrinogenemia lack fibrin deposition and induration. J Clin Invest 1979;63: 1302-1306
32. Roberts HR, Stinchcombe TE, Gabriel DA. The dysfibrinogenaemias. Br J Haematol 2001;114:249-257
33. Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia. J Clin Invest 1999;103: 215-218 (Pubitemid 29053139)
34. Vu D, Neerman-Arbez M. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins. J Thromb Haemost 2007;5(Suppl 1):125-131 (Pubitemid 46958825)
35. Platè M, Asselta R, Peyvandi F, Tenchini ML, Duga S. Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient. Biochim Biophys Acta 2007;1772:781-787 (Pubitemid 46900884)
36. Platè M, Asselta R, Spena S, et al. Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion. Blood Cells Mol Dis 2008;41:292-297
37. Galanakis DK, Neerman-Arbez M, Scheiner T, et al. Homophenotypic Aalpha R16H fibrinogen (Kingsport): uniquely altered polymerization associated with slower fibrinopeptide A than fibrinopeptide B release. Blood Coagul Fibrinolysis 2007;18:731-737 (Pubitemid 350059331)
38. Hanss M, Biot F. A database for human fibrinogen variants. Ann N Y Acad Sci 2001;936:89-90
39. Ingerslev J, Sørensen B, Castaman G, Lloyd JV, Varon JD, Savion N. New approaches in the measurement of coagulation. Haemophilia 2008;14(Suppl 3):104-112
40. Neerman-Arbez M, Vu D, Abu-Libdeh B, Bouchardy I, Morris MA. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood 2003;101:3492-3494 (Pubitemid 36857932)
41. Santagostino E, Mancuso ME, Morfini M, et al. Solvent/detergent plasma for prevention of bleeding in recessively inherited coagulation disorders: dosing, pharmacokinetics and clinical efficacy. Haematologica 2006;91:634-639 (Pubitemid 43799459)
42. de Moerloose P, Neerman-Arbez M. Treatment of congenital fibrinogen disorders. Expert Opin Biol Ther 2008;8:979-992
43. Santacroce R, Cappucci F, Pisanelli D, et al. Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. Blood Coagul Fibrinolysis 2006;17:235-240 (Pubitemid 43756117)
44. De Vries A, Rosenberg T, Kochwa S, Boss JH. Precipitating antifibrinogen antibody appearing after fibrinogen infusions in a patient with congenital afibrinogenemia. Am J Med 1961;30:486-494
45. Ra'anani P, Levi Y, Varon D, Gitel S, Martinowitz U. [Congenital afibrinogenemia with bleeding, bone cysts and antibodies to fibrinogen]. Harefuah 1991;121:291-293
46. Schuepbach RA, Meili EO, Schneider E, Peter U, Bachli EB. Lepirudin therapy for thrombotic complications in congenital afibrinogenaemia. Thromb Haemost 2004;91: 1044-1046 (Pubitemid 38647511)
47. Négrier C, Rothschild C, Goudemand J, et al. Pharmacokinetics and pharmacodynamics of a new highly secured fibrinogen concentrate. J Thromb Haemost 2008;6:1494-1499
48. Galanakis DK. Fibrinogen anomalies and disease. A clinical update. Hematol Oncol Clin North Am 1992;6:1171-1187
49. Vakalopoulou S, Rizopoulou D, Zafiriadou E, et al. Management of acute bleeding in a patient with congenital afibrinogenaemia. Haemophilia 2006;12:676-678 (Pubitemid 44697542)
50. Kreuz W, Meili E, Peter-Salonen K, et al. Pharmacokinetic properties of a pasteurised fibrinogen concentrate. Transfus Apher Sci 2005b;32:239-246 (Pubitemid 40804614)
51. Bishop P, Lawson J. Recombinant biologics for treatment of bleeding disorders. Nat Rev Drug Discov 2004;3:684-694 (Pubitemid 39173509)
52. Tojo N, Miyagi I, Miura M, Ohi H. Recombinant human fibrinogen expressed in the yeast Pichia pastoris was assembled and biologically active. Protein Expr Purif 2008; 59:289-296
53. Grech H, Majumdar G, Lawrie AS, Savidge GF. Pregnancy in congenital afibrinogenaemia: report of a successful case and review of the literature. Br J Haematol 1991;78:571-572
54. Kobayashi T, Kanayama N, Tokunaga N, Asahina T, Terao T. Prenatal and peripartum management of congenital afibrinogenaemia. Br J Haematol 2000;109:364-366 (Pubitemid 30350719)