A 26-year-old pregnant woman with mild gingival bleeding

Abstract

A 26-year-old pregnant woman with mild gingival bleeding J.Z. Zeng1, Y. Dong1, H.Y. Zhu1, X. Xie1, J.R. Liu1, L. Li2, Y.H. Zhai1, Z. Cao1; 1Department of Laboratory Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing (P.R. China) 2Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing (P.R. China) Summary Congenital dysfibrinogenemia is a genetic coagulopathy that leads to compromised fibrinogen function. This case report describes a 26-year-old pregnant woman at the 38th week of gestation who presented with mild gingival bleeding and constant bruising on her joints. As part of her laboratory workup, fibrinogen was found to be significantly decreased and thrombin time was prolonged. Using whole exome DNA sequence analysis, a heterozygous mutation was identified in the fibrinogen (FGA) (c.104G > A; p.R35H) gene. This mutation has been reported previously in congenital dysfibrinogenemia (CD) patients who are usually asymptomatic and lack any obvious thrombotic complications. However, both post-partum disseminated intravascular coagulation and mild bleeding have been observed in this type of mutant. The patient in our case received fibrinogen concentrate as replacement therapy during her cesarean section to prevent severe bleeding. Neither major bleeding nor a thrombotic event was observed throughout her surgery. Key words: Dysfibrinogenemia; Heterozygous mutation; Fibrinogen; Bleeding; Thrombosis.