Vaskulárna medicína 2-3/2018
Congenital dysfibrinogenemia - laboratory diagnostics and treatment approaches
Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen. The diagnosis is usually based on discrepancies between fibrinogen activity and antigen levels. Diagnosis requires laboratory and genetic methods. Molecular abnormalities, which are frequently heterozygous missense mutations localized in exon 2 of FGA and exon 8 of FGG, lead to defects in one or more phases of fibrinogen to fibrin conversion, fibrin network formation, and other important functions of fibrinogen. Clinical manifestations of dysfibrinogenemia are very heterogeneous, from absence of symptoms to major bleeding or thrombosis, chronic thromboembolic pulmonary hypertension, and renal amyloidosis. Owing to the absence of controlled randomized studies, clinical management is mainly based on expert consensus. For the treatment of bleeding, plasma-derived fibrinogen concentrate is the optimal choice. Treatment of thrombosis may be challenging. More specifically, management strategies should be tailored to each patient, taking the personal and familial history of bleeding and thrombosis, the genotype.
Keywords: vrodená dysfibrinogenémia, krvácanie, trombóza, genetická analýza, manažment liečby
