Vaskulárna medicína 1/2021

Diagnostic procedures and treatment of patients with congenital dysfibrinogenemia

Congenital dysfibrinogenemia (CD) is a rare disease of hemostasis which is caused by structural changes in fibrinogen These changes lead to impaired fibrinogen function. Laboratory diagnosis is based on discrepancies between decreased fibrinogen activity and normal fibrinogen antigen. Genetic testing is required to confirm the diagnosis. In most cases, heterozygous missense mutations are used in one of the three genes encoding fibrinogen (FGA, FGB, FGG). Most patients are asymptomatic, but others suffer from bleeding and, in some cases, thrombotic complications can be observed. Patients with causal mutations that are associated with thrombosis can be at high risk of thrombosis. Long-term anticoagulanion is appropriate in this group of patients. Periprocedural management and pregnancy is a challenging approach to treatment. The administration of fibrinogen concentrate plays the most important role in the treatment. Antifibrinolytics are important in the treatment of some specific clinical states. In this manuscript, we describe an approach to the comprehensive diagnosis of CD and focus on the treatment of some of the most common clinical cases in patients with CD.

Keywords: diagnosis, bleeding management, thrombotic complications management, pregnancy management