Tomáš Šimurda, Miroslava Dobrotová, Ján Staško, Peter Kubisz
Fibrinogen is a 340 kDa glycoprotein encoded by three genes - FGA (alpha chain gene of fibrinogen), FGB (beta chain gene
of fibrinogen), FGG (gamma chain gene of fibrinogen) – the chromosome 4q, which is involved in the final stages of
coagulation as the precursor fibrin required for formation of a hemostatic plug. Inherited disorders of fibrinogen among
the rare abnormalities of haemostasis disorders. Disorders divided into quantitative disorders (afibrinogenemia and hypofibrinogenemia)
and qualitative disorders (dysfibrinogenemia and hypodysfibrinogenémia). Quantitative disorders
of fibrinogen can result from mutations affecting the synthesis and processing of fibrinogen, whereas the quality defects
are due to mutations causing abnormal polymerization, crosslinking or defective lack of involvement of the fibrinolytic
system. Clinical manifestations vary from asymptomatic symptoms to life-threatening bleeding or thromboembolic
events. Diagnosis is based on clinical and laboratory findings, not least important, the genetic analysis, with a
view to finding mutations responsible for causing various disorders. Treatment management includes the use of fibrinogen
concentrate obtained from blood plasma.