Background: Inherited dysfibrinogenemia (ID) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with ID are associated with bleeding, thrombosis, but many are asymptomatic.

Aims: Better describe and compare the clinical, laboratory and genotypic picture of ID.

Methods: We evaluated 31 patients with ID from 7 unrelated families using standard coagulation tests (fibrinogen activity and antigen, activated partial thromboplastin, prothrombin, thrombin and reptilase time), rotational thromboelastometry (EXTEM,INTEM,FIBTEM) and genetic analysis.

Results: The clinical phenotype consisted of bleeding in 13/31 (42%) patients (bleeding score >1 at any site), additional subjects 18/31 (58%) were asymptomatic. Among patients with bleeding, symptoms were mostly mild, at one or more anatomical sites. There were not observed thrombotic complications. Results of rotational thromboelastometry showed that median of selected parameters of CD were in the most of cases in the normal range. Paradoxically, the asymptomatic patients had a lower median of maximum clot firmness compared to symptomatic subjects. In the study there were identified three mutations in the FGA (c.95G>A, c.104G>A) and FGB (c.586C>T) genes.

Conclusions: The variants of ID identified in this cross-sectional study were either asymptomatic or had bleeding manifestations and show similar laboratory features irrespective of genotype. However, results from genetic, and clinical studies will continue to yield valuable information on the structure and function of the fibrinogen molecule as well as on the development and course of ID.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/comparison-natural-history-and-genotype-of-31-patients-with-inherited-dysfibrinogenemia/