afibrinogenemia

Summary

Summary: A deficiency or absence of FIBRINOGEN in the blood.

Top Publications

  1. Bolton Maggs P, Perry D, Chalmers E, Parapia L, Wilde J, Williams M, et al. The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia. 2004;10:593-628 pubmed
    ..We have chosen to include a section on Ehlers-Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients. ..
  2. Schuepbach R, Meili E, Schneider E, Peter U, Bachli E. Lepirudin therapy for thrombotic complications in congenital afibrinogenaemia. Thromb Haemost. 2004;91:1044-6 pubmed
  3. Suh T, Holmbäck K, Jensen N, Daugherty C, Small K, Simon D, et al. Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. Genes Dev. 1995;9:2020-33 pubmed
    ..Microscopic analysis of spontaneous lesions found in A alpha-/- mice suggests that fibrin(ogen) plays a fundamental role in the organization of cells at sites of injury. ..
  4. Fuchs R, Levin J, Tadel M, Merritt W. Perioperative coagulation management in a patient with afibrinogenemia undergoing liver transplantation. Liver Transpl. 2007;13:752-6 pubmed
    b>Afibrinogenemia is a rare hereditary coagulation disorder characterized by a propensity toward bleeding...
  5. Kreuz W, Meili E, Peter Salonen K, Haertel S, Devay J, Krzensk U, et al. Efficacy and tolerability of a pasteurised human fibrinogen concentrate in patients with congenital fibrinogen deficiency. Transfus Apher Sci. 2005;32:247-53 pubmed
    ..Substitution with pasteurised human fibrinogen concentrate in patients with congenital fibrinogen deficiencies is efficient and generally well tolerated. ..
  6. Neerman Arbez M, Vu D, Abu Libdeh B, Bouchardy I, Morris M. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood. 2003;101:3492-4 pubmed
    Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen...
  7. Acharya S, Dimichele D. Rare inherited disorders of fibrinogen. Haemophilia. 2008;14:1151-8 pubmed publisher
    ..Inherited fibrinogen disorders can manifest as quantitative defects (afibrinogenemia and hypofibrinogenemia) or qualitative defects (dysfibrinogenemia)...
  8. Haberer J, Obstler C, Samama C, Darnige L, Szwebel T, Meyer A, et al. Postoperative deep venous thrombosis in a woman with congenital afibrinogenaemia treated with fibrinogen concentrates. Eur J Anaesthesiol. 2008;25:519-21 pubmed publisher
  9. Kreuz W, Meili E, Peter Salonen K, Dobrkovská A, Devay J, Haertel S, et al. Pharmacokinetic properties of a pasteurised fibrinogen concentrate. Transfus Apher Sci. 2005;32:239-46 pubmed

More Information

Publications62

  1. Castaman G. Prophylaxis of bleeding episodes and surgical interventions in patients with rare inherited coagulation disorders. Blood Transfus. 2008;6 Suppl 2:s39-44 pubmed
    ..The goal for the future is to render this treatment accessible to all patients with these disorders, also to those living in developing countries. ..
  2. Kinebuchi A, Ohtsuka T, Ishida S, Otsuka S, Abe T, Yamakage A, et al. Leg ulcer presenting in a patient with congenital afibrinogenaemia. Eur J Dermatol. 2002;12:70-2 pubmed
    ..This is the second reported case of congenital afibrinogenaemia presented with leg ulcer. ..
  3. Hariharan G, Ramachandran S, Parapurath R. Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. Ital J Pediatr. 2010;36:1 pubmed publisher
    Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1...
  4. Dupuy E, Soria C, Molho P, Zini J, Rosenstingl S, Laurian C, et al. Embolized ischemic lesions of toes in an afibrinogenemic patient: possible relevance to in vivo circulating thrombin. Thromb Res. 2001;102:211-9 pubmed
    ..Hyperfibrinogenemia is an independent vascular risk factor and dysfibrinogenemia can provoke thrombosis. Afibrinogenemia is usually responsible for hemorrhagic diathesis, and unexpected ischemic lesions are intriguing...
  5. Oruc N, Tokat Y, Killi R, Tombuloglu M, Ilter T. Budd-Chiari syndrome in an afibrinogenemic patient: a paradoxical complication. Dig Dis Sci. 2006;51:378-80 pubmed
  6. de Moerloose P, Neerman Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2009;35:356-66 pubmed publisher
    Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both (hypodysfibrinogenemia)...
  7. de Bosch N, Mosesson M, Ruiz Saez A, Echenagucia M, Rodriguez Lemoin A. Inhibition of thrombin generation in plasma by fibrin formation (Antithrombin I). Thromb Haemost. 2002;88:253-8 pubmed
    ..plasma that is mitigated by fibrinogen replacement; 2) evidence that prothrombin activation is increased in afibrinogenemia and normalized by fibrinogen replacement; 3) the severe thrombophilia that is associated with defective ..
  8. Negrier C, Rothschild C, Goudemand J, Borg J, Claeyssens S, Alessi M, et al. Pharmacokinetics and pharmacodynamics of a new highly secured fibrinogen concentrate. J Thromb Haemost. 2008;6:1494-9 pubmed publisher
    Inherited afibrinogenemia is a rare autosomal recessive disorder characterized by the absence or trace amounts of plasma fibrinogen inducing varying bleeding tendencies...
  9. Acharya S, Coughlin A, Dimichele D. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004;2:248-56 pubmed
    ..This registry provides the most comprehensive information to date about North American individuals with RBDs and could serve as an important resource for both basic scientist and clinician. ..
  10. Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood. 2000;95:1336-41 pubmed
    Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen...
  11. Neerman Arbez M, Germanos Haddad M, Tzanidakis K, Vu D, Deutsch S, David A, et al. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood. 2004;104:3618-23 pubmed
    Congenital afibrinogenemia, the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen...
  12. Kobayashi T, Kanayama N, Tokunaga N, Asahina T, Terao T. Prenatal and peripartum management of congenital afibrinogenaemia. Br J Haematol. 2000;109:364-6 pubmed
    ..5 g/l and, if possible, higher than 2.0 g/l to prevent placental abruption; (v) the puerperium is usually uneventful with a reduced dose of fibrinogen infusion. ..
  13. Roque H, Stephenson C, Lee M, Funai E, Popiolek D, Kim E, et al. Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. Am J Hematol. 2004;76:267-70 pubmed
    We managed two pregnancies in a woman with congenital afibrinogenemia with increasing amounts of cryoprecipitate to achieve a pre-infusion fibrinogen level of 60 mg/dL...
  14. Remijn J, Wu Y, Ijsseldijk M, Zwaginga J, Sixma J, de Groot P. Absence of fibrinogen in afibrinogenemia results in large but loosely packed thrombi under flow conditions. Thromb Haemost. 2001;85:736-42 pubmed
    ..The found increased thrombus size and loosely packed platelets might help to understand thrombotic complications sometimes seen in afibrinogenemia patients.
  15. Attanasio C, David A, Neerman Arbez M. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). Blood. 2003;101:1851-6 pubmed
    Congenital afibrinogenemia (Mendelian Inheritance in Man #202400) is a rare, autosomal recessive disorder characterized by the complete absence of circulating fibrinogen...
  16. Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini M. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. Blood. 2002;100:4478-84 pubmed
    Congenital afibrinogenemia is a rare inherited coagulopathy, characterized by very low or unmeasurable plasma levels of immunoreactive fibrinogen...
  17. Brennan S, Davis R, Conard K, Savo A, Furuya K. Novel fibrinogen mutation ?314Thr?Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia. Liver Int. 2010;30:1541-7 pubmed publisher
    ..We describe only the fourth mutation to be identified, ?314Thr?Pro (fibrinogen AI duPont), giving rise to hypofibrinogenaemia and hepatic fibrinogen storage disease. ..
  18. de Moerloose P, Neerman Arbez M. Treatment of congenital fibrinogen disorders. Expert Opin Biol Ther. 2008;8:979-92 pubmed
    ..Global hemostasis tests in combination with routine assays could help to individually tailor therapeutic protocols. ..
  19. Rosenberg J, Newman P, Mosesson M, Guillin M, Amrani D. Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain. Thromb Haemost. 1993;69:217-20 pubmed
    ..We conclude that the insertion of this amino acid sequence leads to a conformationally-altered, and dysfunctional gamma-chain in Paris I fibrinogen. ..
  20. Peyvandi F, Haertel S, Knaub S, Mannucci P. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost. 2006;4:1634-7 pubmed
  21. Hayes T. Dysfibrinogenemia and thrombosis. Arch Pathol Lab Med. 2002;126:1387-90 pubmed
    ..This is an evolving area of research, and further clinical studies may change these recommendations in the future. ..
  22. Davis R, Homer V, George P, Brennan S. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat. 2009;30:221-7 pubmed publisher
    ..115-600A>G) located deep within intron 1 of the fibrinogen beta gene (FGB), as a likely cause of afibrinogenemia. While this was the only mutation detected, its pathological mechanism was unclear...
  23. Puls F, Goldschmidt I, Bantel H, Agne C, Bröcker V, Dämmrich M, et al. Autophagy-enhancing drug carbamazepine diminishes hepatocellular death in fibrinogen storage disease. J Hepatol. 2013;59:626-30 pubmed publisher
    ..These results suggest clinical applicability of pharmacological stimulation of autophagy in FSD, but potentially also in other related disorders. ..
  24. Girard C, Guillot B, Biron C, Lavabre Bertrand T, Navarro R, Bessis D. Digital skin necrosis in congenital afibrinogenaemia associated with hepatitis C virus infection, mixed cryoglobulinaemia and anticardiolipin antibodies. Acta Derm Venereol. 2005;85:56-9 pubmed
    ..Resolution occurred with plasmapheresis. We discuss the pathophysiology of this unusual condition and review the literature for skin manifestations associated with this rare haemostasis disorder. ..
  25. Sørensen B, Bevan D. A critical evaluation of cryoprecipitate for replacement of fibrinogen. Br J Haematol. 2010;149:834-43 pubmed publisher
    ..Clinical studies are needed to evaluate methods of measuring fibrinogen and assessing fibrin polymerization, and to define critical haemostatic plasma fibrinogen concentrations in different perioperative situations. ..
  26. Aygören Pürsün E, Martinez Saguer I, Rusicke E, Louwen F, Geka F, Ivaskevicius V, et al. Retrochorionic hematoma in congenital afibrinogenemia: resolution with fibrinogen concentrate infusions. Am J Hematol. 2007;82:317-20 pubmed
    Without treatment, pregnancies in patients with congenital afibrinogenemia terminate in miscarriage at 5-6 weeks of gestation...
  27. Margaglione M, Santacroce R, Colaizzo D, Seripa D, Vecchione G, Lupone M, et al. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing. Blood. 2000;96:2501-5 pubmed
    Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by a hemorrhagic diathesis of variable severity...
  28. Asselta R, Duga S, Simonic T, Malcovati M, Santagostino E, Giangrande P, et al. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. Blood. 2000;96:2496-500 pubmed
    Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of plasma fibrinogen and by a bleeding tendency ranging from mild to moderately severe...
  29. Ploplis V, Wilberding J, McLennan L, Liang Z, Cornelissen I, Deford M, et al. A total fibrinogen deficiency is compatible with the development of pulmonary fibrosis in mice. Am J Pathol. 2000;157:703-8 pubmed
    ..This indicates that Fg and/or Fn are not essential for the development of bleomycin-induced pulmonary fibrosis. ..
  30. Asselta R, Duga S, Tenchini M. The molecular basis of quantitative fibrinogen disorders. J Thromb Haemost. 2006;4:2115-29 pubmed
    Hereditary fibrinogen disorders include type I deficiencies (afibrinogenemia and hypofibrinogenemia, i.e...
  31. Tokuda K, Kodani N, Ogino T. [Three cases of hypofibrinogenemia induced by chemotherapy with a combination of synthetic ACTH and valproic acid]. No To Hattatsu. 1994;26:50-6 pubmed
    ..This indicates that the combination of ACTH-Zn and VPA induces a further decrease of Fbg in blood. The reason why hypo-Fbg-emia results from this combination therapy is unknown.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  32. Vakalopoulou S, Rizopoulou D, Zafiriadou E, Perifanis V, Tziomalos K, Lefkou E, et al. Management of acute bleeding in a patient with congenital afibrinogenaemia. Haemophilia. 2006;12:676-8 pubmed
    ..The efficacy of this treatment and the problems that arose during his hospitalization are being discussed. ..
  33. Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, et al. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood. 2001;98:3685-92 pubmed
    Congenital afibrinogenemia is a rare coagulation disorder with autosomal recessive inheritance, characterized by the complete absence or extremely reduced levels of fibrinogen in patients' plasma and platelets...
  34. Song J, Jeong S, Jun I, Lee H, Hwang G. Five-minute parameter of thromboelastometry is sufficient to detect thrombocytopenia and hypofibrinogenaemia in patients undergoing liver transplantation. Br J Anaesth. 2014;112:290-7 pubmed publisher
    ..4 and 1.3 mm, respectively. A5 as an early variable of clot firmness is effective in detecting critically low PLT and Fib. A5 can therefore be a reliable fast index guiding transfusion therapy in hypocoagulable patients undergoing LDLT. ..
  35. Furukawa S, Sameshima H, Ikenoue T, Ohashi M, Nagai Y. Is the perinatal outcome of placental abruption modified by clinical presentation?. J Pregnancy. 2011;2011:659615 pubmed publisher
    ..However, the LR had significantly higher incidence of IUFD, low UA pH < 7.1, low Apgar score of <7 at 5?min, and low fibrinogen. Disease severity in placental abruption is likely to depend on the clinical presentation. ..
  36. Ivaškevičius V, Thomas A, Biswas A, Ensikat H, Schmitt U, Horneff S, et al. A novel fibrinogen γ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis. Hamostaseologie. 2015;35 Suppl 1:S27-31 pubmed
    ..Moreover this mutation seems to increase the risk of thrombosis warranting long term anticoagulation possibly in a combination with antiplatelet drugs. ..
  37. Smith M, Cramer E, Savidge G. Megakaryocytes and platelets in alpha-granule disorders. Baillieres Clin Haematol. 1997;10:125-48 pubmed
    ..Study of these syndromes has elucidated aspects of the physiology of normal megakaryocyte maturation and platelet formation, including storage organelle biosynthesis. ..
  38. Kobayashi T, Takezawa Y, Terasawa F, Okumura N. [Comparison of fibrinogen synthesis and secretion between novel variant fibrinogen, nagakute (gamma305Thr --> Ala), and other variants located in gamma305-308 residues]. Rinsho Byori. 2012;60:831-8 pubmed
    ..Furthermore, gamma306S-gamma307H residues of the gammaC nodule play crucial roles for protein synthesis and fibrin polymerization. ..
  39. Vu D, Neerman Arbez M. [Congenital afibrinogenemia: focusing on molecular mechanisms controlling fibrinogen secretion]. Med Sci (Paris). 2006;22:117-20 pubmed
  40. Pulanic D, Rudan I. The past decade: fibrinogen. Coll Antropol. 2005;29:341-9 pubmed
    ..Future studies will seek to define precise mechanisms of complex gene-environment interactions that influence fibrinogen levels and its complex role in the pathogenesis of fibrinogen-associated diseases. ..
  41. Wu S, Wang Z, Dong N, Bai X, Ruan C. A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia. Blood Coagul Fibrinolysis. 2005;16:221-6 pubmed
    ..The g.3108C --> T (Gln150 --> stop) nonsense mutation in the FGA gene is a novel genetic defect of congenital afibrinogenaemia that, to our knowledge, has not been described previously. ..
  42. Kopec K, Yen M, Bitner M, Evans C, Gerardo C. Marked Hypofibrinogenemia and Gastrointestinal Bleeding After Copperhead (Agkistrodon contortrix) Envenomation. Wilderness Environ Med. 2015;26:488-90 pubmed publisher
    ..Although copperhead envenomations are classically considered less severe than other crotaline envenomations, this case demonstrates the potential of the venom to produce clinically significant hematologic effects. ..
  43. Brennan S, Fellowes A, Faed J, George P. Hypofibrinogenemia in an individual with 2 coding (gamma82 A-->G and Bbeta235 P-->L) and 2 noncoding mutations. Blood. 2000;95:1709-13 pubmed
    ..Residue gamma82 is located in the triple helix that separates the E and D domains, and aberrant packing of the helices may explain the decreased fibrinogen concentration. (Blood. 2000;95:1709-1713) ..
  44. Munoz J, Schering J, Lambing A, Neal S, Goyert G, Green P, et al. The dilemma of inherited dysfibrinogenemia during pregnancy. Blood Coagul Fibrinolysis. 2012;23:775-7 pubmed publisher
    ..We recommend a multidisciplinary team approach for the management of dysfibrinogenemia during pregnancy to provide successful pregnancy outcomes. ..
  45. Meyer M, Bergmann F, Brennan S. Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families. Blood Coagul Fibrinolysis. 2006;17:63-7 pubmed
    ..The molecular defect affecting an evolutionary highly conserved amino acid residue in human fibrinogen interferes with plasma expression of the variant molecules and is causative for the observed hypofibrinogenemic phenotype. ..
  46. Chambers G. Treatment of afibrinogenemia in a chihuahua. J Am Anim Hosp Assoc. 2013;49:70-4 pubmed publisher
    This report discusses the diagnosis and treatment of afibrinogenemia in a Chihuahua...
  47. Franzblau E, Punzalan R, Friedman K, Roy A, Bilen O, Flood V. Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement. Pediatr Blood Cancer. 2013;60:500-2 pubmed publisher
    ..Fibrinogen concentrate may be a treatment option for patients with dysfibrinogenemia, but accurate laboratory technique is critical for fibrinogen measurement. ..
  48. Brennan S, Fellowes A, George P. Molecular mechanisms of hypo- and afibrinogenemia. Ann N Y Acad Sci. 2001;936:91-100 pubmed
    Point mutations responsible for hypo- and afibrinogenemia are yielding new insights into amino acid side chains involved in the molecular processing, assembly, secretion, and domain stability of fibrinogen...
  49. Margaglione M, Vecchione G, Santacroce R, D Angelo F, Casetta B, Papa M, et al. A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo. Thromb Haemost. 2001;86:1483-8 pubmed
    ..contained substantial amounts of albumin. Present findings confirm that truncated Aalpha-chain lacking part of the terminal domain may be incorporated into mature fibrinogen molecules and normally secreted in the bloodstream. ..
  50. Homer V, Brennan S, George P. Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia. Thromb Haemost. 2002;88:1066-7 pubmed
  51. Asselta R, Duga S, Spena S, Peyvandi F, Castaman G, Malcovati M, et al. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. Blood. 2004;103:3051-4 pubmed
    ..This represents the first exonic splicing mutation identified in the fibrinogen genes. These findings strengthen the importance to analyze potentially pathogenetic nucleotide variations at both the protein and the mRNA level. ..
  52. Dear A, Brennan S, Dempfle C, Kirschstein W, George P. Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala -->Val substitution (fibrinogen Dorfen). Thromb Haemost. 2004;92:1291-5 pubmed
    ..This case suggests that the highly conserved Ala(289) is important in maintaining structure of the "a" polymerization site via hydrogen bonding to Thr(371). ..
  53. Fenger Eriksen C, Lindberg Larsen M, Christensen A, Ingerslev J, Sørensen B. Fibrinogen concentrate substitution therapy in patients with massive haemorrhage and low plasma fibrinogen concentrations. Br J Anaesth. 2008;101:769-73 pubmed publisher