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  • Title: [Congenital dysfibrinogenemia. Apropos of 13 cases].
    Author: Corrihons G, Soria J, Soria C, Conard J, Horellou MH, Samama M.
    Journal: Sem Hop; 1983 Oct 13; 59(36):2517-23. PubMed ID: 6316508.
    Abstract:
    Approximately 100 families with congenital dysfibrinogenemia have already been reported in the literature. We have had the opportunity to study 13 affected families in France. The study of these dysfibrinogenemias has two purposes: 1) analysis of the relationships between the structural and functional abnormalities of the fibrinogen defect, since it appears that, in a significant percentage of dysfibrinogenemias, recurrent thrombosis has been observed. The diagnosis of dysfibrinogenemia is easily presumed in hemostasis laboratories since it rests upon prolonged thrombin and/or reptilase clotting times and the discrepancy between the fibrinogen levels obtained by an immunological method and a coagulation method. Many studies have been carried out during the last few years, and in at least seven cases the fibrinogen molecular defect has been elucidated.
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