UNIGE document Scientific Article - Review
previous document  unige:83344  next document
add to browser collection
Title

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management

Authors
Ariëns, R A
Published in Journal of Thrombosis and Haemostasis. 2015, vol. 13, no. 6, p. 909-919
Abstract Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen. The diagnosis is usually based on discrepancies between fibrinogen activity and antigen levels, but could require more specialized techniques for the assessment of fibrinogen function, owing to some limitations in routine assays. Molecular abnormalities, which are frequently heterozygous missense mutations localized in exon 2 of FGA and exon 8 of FGG, lead to defects in one or more phases of fibrinogen to fibrin conversion, fibrin network formation, and other important functions of fibrinogen. The clinical phenotype is highly heterogeneous, from no manifestations to bleeding and/or thrombotic events. Asymptomatic propositi and relatives with the predisposing genotype are at risk of developing adverse outcomes during the natural course of the disease. Correlations between genotype and phenotype have not yet been clearly established, with the exception of some abnormal fibrinogens that severely increase the risk of thrombosis. Functional analysis of polymerization and fibrinolysis, structural studies of the fibrin network and the viscoelastic properties of fibrin clot could help to predict the phenotype of congenital dysfibrinogenemia, but have not yet been evaluated in detail. The management is essentially based on personal and family history; however, even individuals who are still asymptomatic and without a family history should be carefully assessed and monitored. Particular situations, such as pregnancy, delivery, and surgery, require a multidisciplinary approach.
Identifiers
PMID: 25816717
Full text
Article (Published version) (287 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research groups Bases moléculaires des anomalies génétiques de l'hémostase (504)
Geneva Platelet Group (13)
Citation
(ISO format)
CASINI, Alessandro et al. Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. In: Journal of Thrombosis and Haemostasis, 2015, vol. 13, n° 6, p. 909-919. https://archive-ouverte.unige.ch/unige:83344

120 hits

3 downloads

Update

Deposited on : 2016-04-25

Export document
Format :
Citation style :