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Hereditary Hypofibrinogenemia with Hepatic Storage.

Rosanna Asselta1,2, Elvezia Maria Paraboschi1,2, Stefano Duga1,2

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International Journal of Molecular Sciences
|October 27, 2020
PubMed
Summary

Hereditary hypofibrinogenemia with hepatic storage (HHHS) is a rare disorder caused by mutations in fibrinogen genes. This review focuses on the molecular genetics of HHHS, characterized by protein aggregation and liver disease.

Keywords:
FGG genefibrinogenhepatic inclusionhereditary hypofibrinogenemia with hepatic storagehypofibrinogenemiamutationprevalencestorage disease

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Area of Science:

  • Biochemistry
  • Genetics
  • Hematology

Background:

  • Fibrinogen, a plasma glycoprotein, is crucial for blood coagulation.
  • Quantitative fibrinogen deficiencies, like hypofibrinogenemia and afibrinogenemia, are rare inherited disorders.
  • These deficiencies stem from mutations in the genes encoding fibrinogen chains (FGA, FGB, FGG).

Purpose of the Study:

  • To review the clinical and histological features of hereditary hypofibrinogenemia with hepatic storage (HHHS).
  • To focus on the molecular genetic underpinnings of HHHS, a specific coagulopathy.
  • To elucidate the genetic basis of protein aggregation in the endoplasmic reticulum leading to hypofibrinogenemia and liver disease.

Main Methods:

  • Review of clinical characteristics of HHHS patients.
  • Analysis of histological features of hepatic inclusions in HHHS.
  • Focus on molecular genetic analysis of fibrinogen genes in HHHS.

Main Results:

  • Eight specific mutations affecting the fibrinogen gamma chain have been identified as causative of HHHS.
  • These mutations lead to protein aggregation within the endoplasmic reticulum.
  • HHHS patients exhibit hypofibrinogenemia and variable liver disease severity.

Conclusions:

  • HHHS is a distinct coagulopathy resulting from specific mutations in fibrinogen genes.
  • The identified mutations cause endoplasmic reticulum stress and protein accumulation.
  • Further understanding of the molecular genetics of HHHS is essential for patient management.