A 39 Year-old Female Patient with Hypofibrinogenemia Diagnosed Incidentally in the Preoperative Period

Abstract

Hereditary fibrinogen diseases are rare. Congenital afibrinogenemia is characterized by the absence of fibrinogen.Circulating fibrinogen levels below 150 mg/dl are called hypofibrinogenemia. Although hypofibrinogenemia is estimated to be more common than afibrinogenemia, most of the affected individuals are asymptomatic. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known. We aimed to present a case of a 39 year-old female patient diagnosed with hypofibrinogenemia in the preoperative period. In the patient, the homozygous frameshift mutation in the FGG was detected. Congenital fibrinogen disorders are rare coagulation diseases. The molecular epidemiology of congenital fibrinogen disorders is complex and the identification of new mutations will help shed light on this complex molecular structure. Therefore, we recommend a genetic analysis for at-risk patients.