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

Abdulrahman Al-Hussaini, Abdulhadi Altalhi, Imad El Hag, Hussa Alhussaini, Paola Francalanci, Isabella Giovannoni, Francesco Callea

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)255-261
Number of pages7
JournalSaudi Journal of Gastroenterology
Volume20
Issue number4
DOIs
Publication statusPublished - 2014

Keywords

  • Endoplasmic reticulum storage disease
  • fibrinogen
  • fibrinogen gamma chain
  • hepatocyte intracytoplasmic inclusions
  • hypofibrinogenemia

ASJC Scopus subject areas

  • Gastroenterology
  • Medicine(all)

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