Familial Dysfibrinogenemia
Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
Epidemiology
Prevalence is unknown but dysfibrinogenemia is more frequent than afibrinogenemia which has a prevalence of 1/1,000,000.
Clinical description
Most patients with dysfibrinogenemia are asymptomatic. The others may have mild bleeding symptoms or even thrombosis.
Etiology
The deficiency is due to various mutations in the FGA, FGB, or FGG genes.
Genetic counseling
Transmission is mainly autosomal dominant.