Abstract Number: PB0205
Meeting: ISTH 2020 Congress
Theme: Coagulation and Natural Anticoagulants » Coagulation Factors and Inhibitors
Background: Fibrinogen is a plasma glycoprotein with 340 kDa essential for the fibrin clot formation and platelet aggregation. Hypodysfibrinogenemia is a qualitative and a quantitative deficiency in circulating fibrinogen, with a strong clinical heterogeneity. About half of the cases are clinically asymptomatic and others have a haemorrhagic and sometimes thrombotic tendency. The difference between the level of active fibrinogen and antigen makes it possible to establish the diagnosis of hypodysfibrinogenenia.
Aims: Demonstrate the importance of assaying certain coagulation factors known to be generally responsible for hemorrhagic and rarely thrombotic diseases and to identify the mutations responsible.
Methods: This is a 9-year-old patient, S.K, who was addressed to the haemostasis laboratory for exploration of a disturbed coagulation report. The examination of the patient and his family does not report any hemorrhagic or thrombotic symptomatology in the child, but there is a history of thrombosis in the father.
Results: The haemostasis assessment revealed in the propositus and some members of his family a deficiency in fibrinogen marked by a very large difference between the level of active fibrinogen and antigen which allowed to make the diagnosis of hypodysfibrinogenesis. A thrombosis assessment was performed in the father who thrombosed, and returned without abnormality. The genetic study identified a new mutation in exon 8 of the FGG fibrinogen gene never reported in the literature, found in the propositus and other members of his family with fibrinogen deficiency.
Conclusions: Hypodysfibrionogenemia is a very rare hemostasis abnormality with a clinical haemorrhagic and thrombotic heterogeneity and a significant difference between the level of active fibrinogen and antigen. This study allowed us to identify a new mutation never described in the literature.
To cite this abstract in AMA style:
Hadjali - Saichi S, Guenounou - Guemmour K, De Mazancourt P, Frigaa I. Hypodysfibrinogenemia with a New Heterozygous Mutation in Fibrinogen in a Patient with Thrombotic Complications [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/hypodysfibrinogenemia-with-a-new-heterozygous-mutation-in-fibrinogen-in-a-patient-with-thrombotic-complications/. Accessed October 1, 2023.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/hypodysfibrinogenemia-with-a-new-heterozygous-mutation-in-fibrinogen-in-a-patient-with-thrombotic-complications/