Hereditary hepatic fibrinogen storage disease with a novel fibrinogen variant FGG c.1113T>A ( fibrinogen Seoul III ).

Abstract

Hereditary hepatic fibrinogen storage disease (HHFS) is an extremely rare genetic disorder caused by mutations in the fibrinogen gamma ( FGG ) gene. Clinical presentations range from asymptomatic cases to severe symptoms. We present the case of a 9-year-old boy with persistently elevated liver enzymes who exhibited no clinical symptoms. A liver biopsy revealed hepatic fibrinogen storage disease, and genetic testing identified a heterozygous mutation, c.1113T>A, p.(Asn371Lys) in FGG . This is the first reported case of HHFS in Korea, as well as the first report of this novel mutation. Multigene panel testing played a crucial role in diagnosing this rare condition. Following three months of ursodeoxycholic acid medication, liver enzyme levels normalized, and the patient is currently under follow-up.