The dilemma of inherited dysfibrinogenemia during pregnancy

Inherited dysfibrinogenemia is a rare disorder caused by mutations in the fibrinogen gene, described in approximately 400 families to date. We present the case of a 20-year-old woman at 7 weeks of pregnancy with a history of two first-trimester spontaneous abortions and a family history of thrombotic events. Her testing revealed evidence of dysfibrinogenemia, necessitating multidisciplinary management planning including Hematology, OB-GYN, Maternal-Fetal Medicine, Blood Bank Services and Anesthesia. Antenatal care included a combination of intravenous fibrinogen infusions to maintain fibrinogen levels above 100 mg/dl and anticoagulation with low molecular weight heparin. She had an uneventful full-term delivery and continued fibrinogen infusions and thromboprophylaxis for 6 weeks postpartum. The combination of fibrinogen infusions and anticoagulation maintained the balance between bleeding and clotting in our patient during pregnancy. We recommend a multidisciplinary team approach for the management of dysfibrinogenemia during pregnancy to provide successful pregnancy outcomes.