dysfibrinogénemia

Dysfibrinogenemia is a rare inherited bleeding disorder characterized by abnormalities in the structure and function of fibrinogen. Fibrinogen is a crucial protein in the blood clotting cascade, essential for forming a stable clot. In dysfibrinogenemia, the fibrinogen molecule is produced, but it is structurally or functionally defective. This defect can impair its ability to be converted into fibrin by thrombin or hinder the formation of a strong fibrin mesh.

The clinical manifestations of dysfibrinogenemia are highly variable and can range from asymptomatic to severe bleeding episodes. Some individuals may experience prolonged bleeding after surgery or trauma, frequent nosebleeds, or easy bruising. Others might have no noticeable symptoms. In some cases, dysfibrinogenemia can also be associated with an increased risk of thrombosis, though bleeding is more common.

Diagnosis typically involves a combination of laboratory tests. Routine coagulation tests like the prothrombin time (PT) and activated partial thromboplastin time (aPTT) may be prolonged, but the most specific test is the fibrinogen assay, which often shows a discrepancy between the measured clottable fibrinogen and the total fibrinogen antigen level. Genetic testing can confirm the diagnosis by identifying mutations in the fibrinogen genes (FGA, FGB, or FGG).

There is no specific cure for dysfibrinogenemia. Management focuses on controlling bleeding episodes. This can involve the administration of fibrinogen concentrate or fresh frozen plasma to temporarily increase fibrinogen levels. In cases of thrombosis, anticoagulation therapy may be considered. Genetic counseling is important for affected individuals and their families due to the inherited nature of the condition.