Saudi Journal of Gastroenterology
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CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 4  |  Page : 255-261

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen aguadilla" is present in Arabs


1 Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
2 Division of Nephrology, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia
3 Department of Pathology and Laboratory Medicine, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
4 Department of Pathology and Laboratory Medicine, Children's Hospital Bambino Gesù IRCCS, Rome, Italy

Correspondence Address:
Prof. Abdulrahman Al-Hussaini
Division of Pediatric Gastroenterology, Hepatology and Nutrition, University of King Saud Bin Abdulaziz for Health Sciences, Children's Hospital, King Fahad Medical City, PO Box 59046, Riyadh Postal code 11525
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1319-3767.136985

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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.


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