Open AccessHepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs
Author(s) -
Abdulrahman AlHussaini,
Abdulhadi Altalhi,
Imad El Hag,
Hussa Al–Hussaini,
Paola Francalanci,
Isabella Giovani,
Francesco Callea
Publication year - 2014
Publication title -
the saudi journal of gastroenterology/saudi journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.608
H-Index - 32
eISSN - 1998-4049
pISSN - 1319-3767
DOI - 10.4103/1319-3767.136985
Subject(s) - fibrinogen , medicine , mutation , endoplasmic reticulum , afibrinogenemia , liver disease , pathology , gene , biology , genetics
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.