Clinical Consequences and Molecular Bases of Low Fibrinogen Levels

• Main Authors: Marguerite Neerman-Arbez, Alessandro Casini
• Format: Article
• Language: English
• Published: MDPI AG 2018-01-01
• Series: International Journal of Molecular Sciences
• Subjects: fibrinogen; genetics; bleeding; thrombosis; women’s health; zebrafish
• Online Access: http://www.mdpi.com/1422-0067/19/1/192

The study of inherited fibrinogen disorders, characterized by extensive allelic heterogeneity, allows the association of defined mutations with specific defects providing significant insight into the location of functionally important sites in fibrinogen and fibrin. Since the identification of the first causative mutation for congenital afibrinogenemia, studies have elucidated the underlying molecular pathophysiology of numerous causative mutations leading to fibrinogen deficiency, developed cell-based and animal models to study human fibrinogen disorders, and further explored the clinical consequences of absent, low, or dysfunctional fibrinogen. Since qualitative disorders are addressed by another review in this special issue, this review will focus on quantitative disorders and will discuss their diagnosis, clinical features, molecular bases, and introduce new models to study the phenotypic consequences of fibrinogen deficiency.