New thrombophylia as a result of fibrinogen mutation

Fibrinogen (FG), factor I of the blood coagulation system, is a critical component of the hemostatic cascade. Its primary physiological function involves the final stage of blood coagulation, where soluble fibrinogen is converted into insoluble fibrin by thrombin and factor XII. Increasing data highlight congenital disorders of fibrinogen synthesis and/or structure, with deficiencies found in 9.3% of rare blood coagulation disorders. The variety of phenotypes in congenital FG structural disorders, characterized by a tendency for bleeding and/or thrombosis, primarily in the arterial system (infarcts, strokes), complicates modern diagnosis. Therefore, a detailed study of FG defects in patients is required. This article reviews current literature on the role of fibrinogen in the pathogenesis of cardiovascular diseases. A clinical case is presented involving a 36-year-old woman who experienced a myocardial infarction without obstructive coronary artery disease, linked to a homozygous mutation in fibrinogen (FGB −455 G/A).

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