Vaskulárna medicína 1/2023

Congenital fibrinogen disorders with thrombotic phenotype

Fibrinogen plays a key role in the process of hemostasis. Congenital quantitative and qualitative fibrinogen disorders are manifested more often by bleeding, but also cases of thrombotic complications were described. Known risk factors for thrombosis include obesity, surgery, trauma, malignancy, pregnancy and puerperium or oral contraceptive usage. The pathophysiological mechanisms of thrombosis in congenital fibrinogen disorders (CFD) are still not fully understood. Laboratory tests for diagnosis must be followed by genetic analyses, because most cases of CFD are caused by a causal pathogenic variant in one of the three genes coding for fibrinogen. Antithrombotic prophylaxis should be considered individually in the management of patients with a confirmed thrombophilic pathogenic variant of fibrinogen. The following review is a summary of the thrombotic mutations causing CFD, the basic diagnosis and treatment of these diseases.

Keywords: fibrinogen, fibrinogen disorders, thrombotic phenotype, thrombosis