Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature

@article{Casini2015HypofibrinogenemiaAL,
  title={Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature},
  author={Alessandro Casini and Christiane Sokollik and Samuel Wieslaw Lukowski and Eberhard Lurz and Claudine Rieubland and Philippe de Moerloose and Marguerite Neerman-Arbez},
  journal={Haemophilia},
  year={2015},
  volume={21}
}
Fibrinogen storage disease (FSD) is characterized by hypofibrinogenemia and hepatic inclusions due to impaired release of mutant fibrinogen which accumulates and aggregates in the hepatocellular endoplasmic reticulum. Liver disease is variable. 
The fibrinogen FGG p.Gly242Glu: a rare mutation associated with hypofibrinogenemia.
A 65-year-old woman originating from the French Basque country presented with a past medical history of three unexplored hemorrhagic episodes. They included prolonged bleeding after adenoidectomy and
Hereditary Hypofibrinogenemia with Hepatic Storage
TLDR
The clinic characteristics of HHHS patients and the histological feature of their hepatic inclusions are reviewed, and the molecular genetic basis of this peculiar type of coagulopathy is focused on.
Hepatic fibrinogen storage disease and hypofibrinogenemia caused by fibrinogen Aguadilla mutation: a case report
  • Leilei Gu, Bin Wang, +4 authors Li Chen
  • Medicine
    The Journal of international medical research
  • 2020
TLDR
The results indicate that, for patients who exhibit chronic liver disease with unexpected hypofibrinogenemia, hepatic fibr inogen storage disease should be considered in the differential diagnosis, and emphasize the importance of molecular diagnosis in patients with cryptogenic liver disease.
Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid
TLDR
The first Han Chinese patient with FSD, caused by de novo fibrinogen Aguadilla mutation, and his response to pharmacologic management is reported, expanding the epidemiology of FSD and demonstrating idiosyncrasy in response to oral carbamazepine and/or ursodeoxycholic acid in FSD.
Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management.
TLDR
Depletion of fibrinogen in animal models of infections, tumors and neurological diseases has an effect on the clinical course, and the consequences for patients with afibr inogenemia still need to be investigated.
Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage
TLDR
An additional child from Turkey with hypofibrinogenemia due to the Aguadilla mutation, massive hepatic storage of the mutant protein, and severe hypo-APOB-lipoproteinemia is reported here on.
Can the phenotype of inherited fibrinogen disorders be predicted?
  • A. Casini, P. Moerloose
  • Medicine
    Haemophilia : the official journal of the World Federation of Hemophilia
  • 2016
TLDR
Various tests (conventional and global assays, molecular testing, fibrin clot analysis) and clinical features, which may help to better predict the phenotype of the different types of congenital fibr inogen disorders are provided.
Clinical Consequences and Molecular Bases of Low Fibrinogen Levels
TLDR
This review will focus on quantitative disorders and will discuss their diagnosis, clinical features, molecular bases, and introduce new models to study the phenotypic consequences of fibrinogen deficiency.
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains
TLDR
The analysis showed that the world-wide prevalence for recessively-inherited fibrinogen deficiencies could be 10-fold higher than that reported so far, and the mutational burden of the FGA, FGB, and FGG genes was defined and estimated through a systematic analysis of exome/genome data from ~140,000 individuals belonging to the genome Aggregation Database.
Congenital Fibrinogen Disorders
TLDR
Management of patients with congenital fibrinogen disorders is challenging and should always take in account the personal and familial history as well as the genotype in qualitative fibr inogen disorders.
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TLDR
Hypofibrinogenemia and massive hepatic storage of fibrinogene in a child with cryptogenic chronic liver disease and a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation are reported.
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TLDR
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TLDR
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TLDR
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TLDR
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Fibrinogen Gamma375 Arg→Trp Mutation (Fibrinogen Aguadilla) Causes Hereditary Hypofibrinogenemia, Hepatic Endoplasmic Reticulum Storage Disease and Cirrhosis
TLDR
The case of a 61-year-old man with chronic liver function test alterations, the first in an adult male and the second published case with a discernible hepatic fibrinogen endoplasmic reticulum storage disease due to an FGG Arg375Trp (fibr inogen Aguadilla) mutation, is reported.
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