title: Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs.
abstract: The mutation γ375Arg → Trp (fibrinogen Aguadilla) is one of four mutations (Brescia, Aguadilla, Angers, and AI duPont) capable of causing hepatic storage of fibrinogen. It has been observed in four children from the Caribbean, Europe, and Japan, suffering from cryptogenic liver disease. We report the first case of hepatic fibrinogen storage disease in Arabs due to a mutation in the fibrinogen γ-chain gene in a 3-year-old Syrian girl presenting with elevated liver enzymes. The finding of an impressive accumulation of fibrinogen in liver cells raised the suspicion of endoplasmic reticulum storage disease. Sequencing of the fibrinogen genes revealed a γ375Arg → Trp mutation (fibrinogen Aguadilla) in the child and in her father. In conclusion, when confronted with chronic hepatitis of unknown origin, one should check the plasma fibrinogen level and look carefully for the presence of hepatocellular intracytoplasmic globular inclusions to exclude hepatic fibrinogen storage disease.
authors.affiliation: Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: Al-Hussaini
authors.forename: Abdulhadi
authors.initials: A
authors.lastname: Altalhi
authors.forename: Imad
authors.initials: I
authors.lastname: El Hag
authors.forename: Hussa
authors.initials: H
authors.lastname: AlHussaini
authors.forename: Paola
authors.initials: P
authors.lastname: Francalanci
authors.forename: Isabella
authors.initials: I
authors.lastname: Giovannoni
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
mesh_terms: D000347:Afibrinogenemia / Q000235:genetics* / Q000473:pathology; D018912:Arabs / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D002675:Child, Preschool; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005260:Female; D005340:Fibrinogen / Q000032:analysis* / Q000235:genetics; D022781:Hepatocytes; D006801:Humans; D007150:Immunohistochemistry; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000235:genetics / Q000473:pathology; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000209:etiology; D014364:Tryptophan / Q000235:genetics
chemical_list: D014364:Tryptophan; D005340:Fibrinogen; D001120:Arginine