Fibrinogen Troyes - Fibrinogen Metz

Summary

Two new cases of congenital dysfibrinogenemia have been discovered. In the first case, “Fibrinogen TROYES”, the abnormality is characterized by a prolonged thrombin clotting time, the defect being due to abnormal aggregation of fibrin monomers. There is no tendency towards excessive bleeding. The abnormality is found to be present with the same intensity in one of the patient’s brothers and one of his sisters.

In the second case, “Fibrinogen METZ”, the abnormality is more pronounced, since, even in the presence of very high thrombin concentrations no clotting occurs. The abnormality is due to a defect in the release of fibrinopeptides, on addition of thrombin. The patient’s blood contains only abnormal fibrinogen. The plasma recalcification time is more prolonged than in the whole blood clotting time. The abnormality is present in both parents in heterozygote form, a milder form than in the patient who is homozygous. The patient has a moderate bleeding tendency, the parents being normal in this respect.

^* Attachée de Recherches à l’I.N.S.E.R.M.

• References

• 1 Beck E. A, Gharache P, Jackson D. P. A new inherited coagulation disorder caused by abnormal fibrinogen (“fibrinogen Cleveland”. Nature 208: 143 1965;
• 2 Biggs R, Farlane M. G.Mac. Human blood coagulation and its disorders. 3rd edition.. Blackwell scientific publications; Oxford: 1962
• 3 Blombäck B, Blombäck M. Purification of human and bovine fibrinogen. Arkiv for Kemi 10: 415 1956;
• 4 Blombäck B, Blombäck M. Molecular defects and variants of human fibrinogen. Nouv. Rev. Franç. Hemat 10 5, 671 1970;
• 5 Blombäck M, Blombäck B, Mammen E. F, Prasad A. S. Fibrinogen Detroit - a molecular defect in the N terminal disulphide knot of human fibrinogen. Nature 218: 134 1968;
• 6 Blombäck B, Blombäck M, Henschen A, Hessel B, Iwanaga S, Woods K. R. N terminal disulphide knot of human fibrinogen. Nature 215: 1445 1967;
• 7 Bouvier C. A, Gruedlinger J. Etude des phénomènes de coagulation et de fibrinolyse par une méthode simple d’enregistrement optique. Cont. Schweiz. Wschr 93: 1441 1963;
• 8 Caen J, Larrieu M. J, Samama M. stL’hémostase. Méthode d’exploration et diagnostic pratique. Expansion scientifique Edit. Paris: 1968
• 9 Egeberg D. Inherited fibrinogen abnormality causing thrombophilia. Thrombos. Diathes. haemorrh. (Stuttg) 17: 176 1967;
• 10 von Felten A, Duckert F, Frick P. Familial disturbance of fibrin monomer aggregation. Brit. J. Haemat 12: 667 1966;
• 11 von Felten A, Frick P. G, Straub P. W. Studies on fibrin monomer aggregation in congenital dysfibrinogenemia (“Fibrinogen Zurich”): separation of a pathological from a normal fibrin fraction. Brit. J. Haemat 16: 353 1969;
• 12 Forman W. B, Ratnoff O. D, Boyer M. H. An inherited qualitative abnormality in plasma fibrinogen: “Fibrinogen Cleveland”. J. Lab. clin. Med 72: 445 1968;
• 13 Foster J. B. T, Di Natalo A, Dotti L.Lb. Determination of plasma fibrinogen by means of centrifugation after heating. Amer. J. clin. Path 48: 235 1959;
• 14 Janssen G. L, Vreeken J. Fibrinogen Amsterdam, another hereditary abnormality of fibrinogen. Brit. J. Haemat 20: 287 1971;
• 15 Mammen F, Prasad S, Barnhart I, Au C. Congenital dysfibrinogenemia: “Fibrinogen Detroit”. J. clin. Invest 48: 235 1969;
• 16 Menache D. Constitutional and abnormal fibrinogen. Thrombos. Diathes. haemorrh. (Stuttg.) Snppl 13: 173 1963;
• 17 Merskey G. L, Lalezari P, Johnson A. A rapid simple sensitive method for measuring fibrinolytic split products in human serum. Soc. Exp. Biol. (N. Y) 131: 871 1969;
• 18 Frost R. J, Doumenc J, Samama M, Bilski-Pasquier G, Bousser J. L’épreuve de passage des plaquettes sur billes de verre chez les thrombopathiques et les artérioscléreux. Congrès de Strasbourg. 1965 (Hématologie)
• 19 Samama M, Soria J, Soria G, Bousser J. Dysfibrinogénémie congénitale et familiale sans tendance hémorragique. Nouv. Rev. franç. Hémat 09: 817 1969;
• 20 Scheidegger J. J. Une micro méthode de l’immuno eléctrophorèse. Int. Arch. Allergy 07: 103 1955;
• 21 Sorensen S. Pl. Biochem. Z. 22: 352 1969;
• 22 Soria J, Soria G, Yver J, Samama M. Temps de reptilase. Etude de la polymerisation en presence de reptilase. Coagulation 02 2, 173 1969;
• 23 Soria J, Soria G, Samama M, Josso F. Présence d’un antigène plasmatique indispensable à la stabilisation de la fibrine dans deux cas de déficit congénital en facteur XIII. Thrombos. Diathes. haemorrh. (Stuttg) 24: 3 356 1971;
• 24 Soria J, Soria G, Girard M. L, Samama M. Troubles de la fibrinoformation. Technique d’appréciation du premier stade. Pathologie et Biologie 20 5/6 315 1972;
• 25 Soria J, Soria G, Durand G, Feger S. Détermination du point iso électrique du fibrinogène par électrofocalisation sur gel de polyacrylamide. Ann. Biol. clin 30: 161 1972;
• 26 Soria J, Soria G, Boulard G. Analyse du fibrinogène après dissociation des ponts disulfure par électrophorèse sur gel de polyacrylamide. Biochimie 54: 415 1972;
• 27 Streiff F, Alexandre P, Vigneron G, Soria J, Soria G, Mester L. Un nouveau cas d’anomalie constitutionnelle et familiale du fibrinogène sans diathèse hémorragique. Thrombos. Diathes. haemorrh. (Stuttg.) 26 (3) : 565 1971;
• 28 Vermylen G, de Vreker R. A, Verstraete M. A rapid enzymatic method for assay of fibrinogen polymerization time (FPT test). Clin. chim. Acta 08: 418 1963;
• 29 von Kaulla K. N. Antithrombin III and diseases. Amer. J. clin. Path 29: 1041 1958;
• 30 von Kaulla K. N, Schultz R. G. Methods for the evaluation of human fibrinolysis with two combined techniques. Amer. J. clin. Path 29: 104 1958;