How I treat dysfibrinogenemia

Congenital dysfibrinogenemia (CD) is caused by structural changes in fibrinogen that modify its function. Diagnosis is based on discrepancy between decreased fibrinogen activity and normal fibrinogen antigen levels and is confirmed by genetic testing. CD results from monoallelic mutations in fibrinogen genes leading to clinically heterogenous disorders. Most patients with CD are asymptomatic at time of diagnosis but the clinical course may be complicated by a tendency to bleeding and/or thrombosis. Patients with a thrombotic-related fibrinogen variant are particularly at risk and in such patients long-term anticoagulation should be considered. Management of surgery and pregnancy raise important and difficult issues. The mainstay of CD treatment remains fibrinogen supplementation. Antifibrinolytic agents are part of the treatment in some specific clinical settings. In this article, we discuss five clinical scenarios to highlight common clinical challenges. We detail our approach to establish a diagnosis of CD and discuss strategies for the management of bleeding, thrombosis, surgery and pregnancy.