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Expert Opinion on Biological Therapy Volume 8, 2008 - Issue 7
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Reviews

Treatment of congenital fibrinogen disorders

Philippe de Moerloose Professor University Hospital, Division of Angiology and Haemostasis, 1211 Geneva 14, Switzerland +41 22 37 29 751; +41 22 37 29 777; [email protected]
&
Marguerite Neerman-Arbez Professor University Hospital, Division of Angiology and Haemostasis, 1211 Geneva 14, Switzerland +41 22 37 29 751; +41 22 37 29 777; [email protected]; Professor University Medical School, Department of Genetic Medicine and Development, Geneva, Switzerland [email protected]
Pages 979-992 | Published online: 12 Jun 2008

Bibliography

  • Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995;73:151-61
  • Lak M, Keihani M, Elahi F, et al. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 1999;107:204-6
  • Acharya SS, Coughlin A, Dimichele DM; North 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;2:248-56
  • Bolton-Maggs PHB, Perry DJ, Chalmers EA, et al. The rare coagulation disorders – review with guidelines for management from the United Haemophilia Centre Doctor's Organisation. Haemophilia 2004;10:593-628
  • Peyvandi F, Haertel S, Knaub S, Mannucci PM. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost 2006;4:1634-7
  • McDonagh J. Dysfibrinogenemia and other disorders of fibrinogen structure or function. In: Colman R, Hirsh J, Marder V, et al, editors, Hemostasis and thrombosis. Basic principles and clinical practice. Chapter 53. Lippincott Williams and Wilkins; 2001. p. 855-92
  • Maghzal GJ, Brennan SO, Homer VM, George PM. The molecular mechanisms of congenital hypofibrinogenaemia. Cell Mol Life Sci 2004;61:1427-38
  • Neerman-Arbez M, de Moerloose P. Mutation in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations. Hum Mutat 2007;28:540-53
  • Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features of fibrinogen and fibrin. Ann NY Acad Sci 2001;936:11-30
  • Redman CM, Xia H. Fibrinogen biosynthesis. Assembly, intracellular degradation, and association with lipid synthesis and secretion. Ann NY Acad Sci 2001;936:480-95
  • Spraggon G, Everse SJ, Doolittle RF. Crystal structures of fragment D from human fibrinogen and its crosslinked counterpart from fibrin. Nature 1997;389:455-62
  • Kant JA, Fornace AJ Jr, Saxe D, et al. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci USA 1985;82:2344-8
  • Crabtree GR, Kant JA, Fornace AJ Jr, et al. Regulation and characterization of the mRNAs for the A alpha, B beta and gamma chains of fibrinogen. Ann NY Acad Sci 1983;408:457-68
  • Fuller GM, Zhang Z. Transcriptional control mechanism of fibrinogen gene expression. Ann NY Acad Sci 2001;936:469-79
  • Liu Z, Fuller GM. Detection of a novel transcription factor for the Aα fibrinogen gene in response to interleukin-6. J Biol Chem 1995;270:7580-6
  • Mosesson MW. Hereditary fibrinogen abnormalities. In: Williams Hematology 7th edition. Lichtman M, Beutler E, Kipps TJ, Seligsohn U, Kaushansky K, Prchal J, editors. McGraw-Hill New York, 2005;1909-27
  • Blomback M, Blomback B, Mammen EF, Prasad AS. Fibrinogen Detroit – a molecular defect in the N-terminal disulphide knot of human fibrinogen? Nature 1968;218:134-7
  • Rabe F, Salomon E. Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch Intern Med 1920;95:2-14
  • Peyvandi F, Kaufman RJ, Seligsohn U, et al. Rare bleeding disorders. Haemophilia 2006;12(Suppl 3):137-42
  • Fried K, Kaufman S. Congenital afibrinogenemia in 10 offspring of uncle-niece marriages. Clin Genet 1980;17:223
  • Al-Mondhiry H, Ehmann WC. Congenital afibrinogenemia. Am J Hematol 1994;46:343-7
  • Awidi AS. Rare inherited bleeding disorders secondary to coagulation factors in Jordan: a nine-year study. Acta Haematol 1992;88:11-3
  • Ehmann WC, Al-Mondhiry H. Congenital afibrinogenemia and splenic rupture. Am J Med 1994;96:92-4
  • Shima M, Tanaka I, Sawamoto Y, et al. Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat and vapor solvent detergent-treated fibrinogen concentrates. J Pediatr Hematol Oncol 1997;19:462-5
  • Roque H, Stephenson C, Lee MJ, et al. Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. Am J Hematol 2004;76:267-70
  • Iwaki T, Sandoval-Cooper MJ, Paiva M, et al. Fibrinogen stabilizes placental-maternal attachment during embryonic development in the mouse. Am J Pathol 2002;160:1021-34
  • Suh TT, Holmback K, Jensen NJ, et al. Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. Genes Dev 1995;9:2020-33
  • Kobayashi T, Asahina T, Maehara K, et al. Congenital afibrinogenemia with successful delivery. Gynecol Obstet Invest 1996;42:66-9
  • Ingram GI, Mc Brien DJ, Spencer H. Fatal pulmonary embolus in congenital fibrinopenia. Acta Haematol 1966;35:56-62
  • Cronin C, Fitzpatrick D, Temperley I. Multiple pulmonary emboli in a patient with afibrinogenaemia. Acta Haematol 1988;79:53-4
  • 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;102:211-9
  • Girolami A, Ruzzon E, Tezza F, et al. Arterial and venous thrombosis in rare congenital bleeding disorders: a critical review. Haemophilia 2006;12:345-51
  • Hanano M, Takahashi H, Itoh M, Shibata A. Coexistence of congenital afibrinogenemia and protein C deficiency in a patient. Am J Hematol 1992;41:57-60
  • De Mattia D, Regina G, Giordano P, et al. Association of congenital afibrinogenemia and K-dependent protein C deficiency – a case report. Angiology 1993;44:745-9
  • 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;77:1272-7
  • Roberts HR, Monroe DM, Oliver JA, et al. Newer concepts of blood coagulation. Haemophilia 1998;4:331-4
  • Korte W, Feldges A. Increased prothrombin activation in a patient with congenital afibrinogenemia is reversible by fibrinogen substitution. Clin Invest 1994;72:396-8
  • De Bosch NB, Mosesson MW, Ruiz-Saez A, et al. Inhibition of thrombin generation in plasma by fibrin formation (Antithrombin I). Thromb Haemost 2002;88:253-8
  • Mosesson MW. Antithrombin I. Inhibition of thrombin generation in plasma by fibrin formation. Thromb Haemost 2003;89:9-12
  • 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;106:385-92
  • Remjin JA, Wu Y-P, Ijsseldijk W, et al. Absence of fibrinogen in afibrinogenemia results in large but loosely packed thrombi under flow conditions. Thromb Haemost 2001;85:736-42
  • Henselmans JM, Meijer K, Haaxma R, et al. Recurrent spontaneous intracerebral hemorrhage in a congenitally afibrinogenemic patient: diagnostic pitfalls and therapeutic options. Stroke 1999;30:2479-82
  • Brennan SO, Wyatt J, Medicina D, et al. Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a γ284 Gly→Arg mutation. Am J Pathol 2000;157:189-96
  • Brennan SO, Maghzal G, Shneider BL, et al. Novel fibrinogen γ375 Arg→Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002;36:652-8
  • Dib N, Quelin F, Ternisien C, et al. Fibrinogen Angers with a new deletion (γ GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage. J Thromb Haemost 2007;5:1999-2005
  • Callea F, Brisigotti M, Fabbretti G, et al. Hepatic endoplasmic reticulum storage diseases. Liver 1992;12:357-62
  • Martinez J. Congenital dysfibrinogenemia. Curr Opin Hematol 1997;4:357-65
  • Roberts HR, Stinchcombe TE, Gabriel DA. The dysfibrinogenaemias. Br J Haematol 2001;114:249-57
  • Hayes T. Dysfibrinogenemia and thrombosis. Arch Pathol Lab Med 2002;126:1387-90
  • Colvin RB, Mosesson MW, Dvorak HF. Delayed-type hypersensitivity skin reactions in congenital afibrinogenemia lack fibrin deposition and induration. J Clin Invest 1979;63:1302-6
  • Côté HC, Lord ST, Pratt KP. γ–chain dysfibrinogenemia: molecular structure-function relationships of naturally occurring mutations in the γ chain of human fibrinogen. Blood 1998;92:2195-212
  • Hanss M, Biot F. A database for human fibrinogen variants. Ann NY Acad Sci 2001;936:89-90. Accessed online from: http://www.geht.org/databaseang/fibrinogen
  • Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia. J Clin Invest 1999;103:215-8
  • Vu D, Di Sanza C, Caille D, et al. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. Hum Mol Genet 2005;14:3271-80
  • Neerman-Arbez M, de Moerloose P, Bridel C, et al. Mutations in the fibrinogen aα gene account for the majority of cases of congenital afibrinogenemia. Blood 2000;96:149-52
  • Neerman-Arbez M, de Moerloose P, Honsberger A, et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet 2001;108:237-40
  • Galanakis DK, Neerman-Arbez M, Scheiner T, et al. Homophenotypic Aα R16H fibrinogen (Kingsport): uniquely altered polymerization associated with slower fibrinopeptide A than fibrinopeptide B release. Blood Coagul Fibrinolysis 2007;18:731-7
  • Francalanci P, Santorelli FM, Talini I, et al. Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375 Arg→Trp gene mutation. J Pediatr 2006;148:396-8
  • Rubbia-Brandt L, Neerman-Arbez M, Rougemont A-L, et al. Fibrinogen gamma375 Arg→Trp mutation (fibrinogen Aguadilla) causes hereditary hypofibrinogenemia, hepatic endoplasmic reticulum storage disease and cirrhosis. Am J Surg Pathol 2006;7:906-11
  • Neerman-Arbez M, Vu D, Abu-Libdeh B, et al. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood 2003;101:3492-4
  • Key NS, Negrier C. Coagulation factor concentrates: past, present, and future. Lancet 2007;370:439-48
  • 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;91:634-9
  • Kasper CK, Costa e Silva M. Registry of clotting factor concentrates. World Fed Hemophil Mono 2005;6:1-9
  • Kreuz W, Meili E, Peter-Salonen K, et al. Efficacy and tolerability of a pasteurised human fibrinogen concentrate in patients with congenital fibrinogen deficiency. Transfus Apher Sci 2005a;32:247-53
  • Parameswaran R, Dickinson JP, Lord S, et al. Spontaneous bleeding in two patients with congenital afibrinogenemia and the role of replacement therapy. Haemophilia 2000;6:705-8
  • Inamoto Y, Tereao T. First report of case of congenital afibrinogenemia with successful delivery. Am J Obstet Gynecol 1985;153:803-4
  • Trehan AK, Fergusson LL. Congenital afibrinogenaemia and successful pregnancy outcome. Br J Obstet Gynaecol 1991;98:722-4
  • 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;78:571-82
  • Kobayashi T, Kanayama N, Tokunaga N, et al. Prenatal and peripartum management of congenital afibrinogenaemia. Br J Haematol 2000;109:364-6
  • Aygören-Pürsün E, Martinez Saguer I, Rusicke E, et al. Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. Am J Hematol 2007;82:317-20
  • Rizk DE, Kumar RM. Congenital afibrinogenemia: treatment of excessive menstrual bleeding with continuous oral contraceptive. Am J Hematol 1996;52:237-8
  • Reininger AJ, Reininger CB, Spannagl M, et al. Effect of fibrinogen substitution in afibrinogenemia on hemorheology and platelet function. Thromb Haemost 1995;74:853-8
  • Santacroce R, Cappucci F, Pisanelli D, et al. Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. Blood Coagul Fibrinolysis 2006;17:235-40
  • Singh Y, Sawyer LS, Pinkoski LS, et al. Photochemical treatment of plasma with amotosalen and long-wavelength ultraviolet light inactivates pathogens while retaining coagulation function. Transfusion 2006;46:1168-77
  • 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;91:634-9
  • Bux J, Sachs UJ. The pathogenesis of transfusion-related acute lung injury (TRALI). Br J Haematol 2007;136:788-99
  • 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;30:486-94
  • Ra'Anani P, Levi Y, Varon D, et al. Congenital afibrinogenemia with bleeding, bone cysts and antibodies to fibrinogen. Harefuah 1991;121:291-3
  • Schuepbach RA, Meili EO, Schneider E, et al. Lepirudin therapy for thrombotic complications in congenital afibrinogenaemia. Thromb Haemost 2004;91:1044-6
  • Ludlam CA, Powderly WG, Bozzette S, et al. Clinical perspectives of emerging pathogens in bleeding disorders. Lancet 2006;367:252-61
  • Barrowcliffe TW, Cattaneo M, Poda GM, et al. New approaches for measuring coagulation. Haemophilia 2006;12(Suppl 3):76-81
  • Dargaud Y, Béguin S, Lienhart A, et al. Evaluation of thrombin generating capacity in plasma from patients with haemophilia A and B. Thromb Haemost 2005;93:475-80
  • Goldenberg NA, Hathaway WE, Jabobson L, et al. Influence of factor VIII on overall coagulability and fibrinolytic potential of haemophilic plasma as measured by global assay: monitoring in haemophilia A. Haemophilia 2006;12:805-14
  • Lewis SJ, Stephens E, Florou G, et al. Measurement of global haemostasis in severe haemophilia A following factor VIII infusion. Br J Haematol 2007;138:775-82
  • Trossaërt M, Regnault V, Sigaud M, et al. Mild haemophilia a with factor VIII assay discrepancy: using thrombin generation assay to assess. J Thromb Haemost 2008;6(3):486-93
  • Kreuz W, Meili E, Peter-Salonen K, et al. Pharmacokinetic properties of a pasteurised fibrinogen concentrate. Transfus Apher Sci 2005;32:239-46
  • Negrier C, Goudemand J, Borg JY, et al. A multicentre prospective open-label study assessing pharmacokinetics, clinical efficacy and safety of a triple-secured fibrinogen concentrate, fibrinogen T1. J Thromb Haemost 2007;5(Suppl 2):P196
  • Ducloy-Bouthors AS, Broisin F, Teboul C, et al. A multicentre prospective open-label study assessing efficacy and safety of a triple-secured fibrinogen concentrate in the treatment of postpartum haemorrhage. J Thromb Haemost 2007;5(Suppl 2):P220
  • Galanakis DK. Fibrinogen anomalies and disease. A clinical update. Hematol Oncol Clin North Am 1992;6:1171-87
  • Vakalopoulou S, Rizopoulou D, Zarifiriadou E, et al. Management of acute bleeding in a patient with congenital afibrinogenaemia. Haemophilia 2006;12:676-8
  • Skinner MW. Treatment for all: a vision for the future. Haemophilia 2006;12(Suppl 3):169-73
  • Fuchs RJ, Levin J, Tadel M, Merritt W. Perioperative coagulation management in a patient with afibrinogenemia undergoing liver transplantation. Liver Transpl 2007;13:752-6
  • Tennent GA, Brennan SO, Stangou AJ, et al. Human plasma fibrinogen is synthesized in the liver. Blood 2007;109:1971-4
  • Yang Z, Kollman JM, Pandi L, Doolittle RF. Crystal structure of native chicken fibrinogen at 2.7 Å resolution. Biochemistry 2001;40:12515-23
  • Available from: http://www.pdb.org/pdb/

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