Vaskulárna medicína 1/2021

Advances in the diagnostics and research of congenital fibrinogen disorders Congenital fibrinogen disorders

Congenital fibrinogen disorders (CFD) are rare bleeding disorders of hemostasis characterized by a qualitative or quantitative fibrinogen disorder. Clinical manifestations are variable from asymptomatic disorder to life-threatening bleeding or thromboembolic events. Diagnosis is based on the clinical and laboratory findings and last but not least important is the genetic analysis. Moreover, the diagnosis of CFD can be challenging because the sensitivity and specificity of coagulation assays depend on fibrinogen levels as well as individual fibrinogen mutations. Accurate diagnosis is therefore essential to ensure optimal management of treatment. Global hemostasis tests and functional fibrin clot analyzes are also being investigated in research laboratories to better determine the patient‘s clinical phenotype. In this review, we have focused on the new classification and current information dealing with research of CFD.

Keywords: fibrinogen, new classification, laboratory and genetic diagnostics, research of congenital fibrinogen disorders