Hepatic fibrinogen storage disease

Definition

An autosomal dominant disorder characterized by hypofibrinogenemia and variable liver disease (ranging from asymptomatic transaminase elevation to cirrhosis), caused by variants in FGG that lead to retention of variant fibrinogen as eosinophilic inclusions within the hepatocellular endoplasmic reticulum.

Also known as hepatocellular fibrinogen storage disease, hereditary hypofibrinogenemia with hepatic storage, HFSD, HHHS — per MONDO