ReviewJournal of clinical medicine2022
Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.
Review in Journal of clinical medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice.Research and practice in thrombosis and haemostasis · 2025Review
- A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.Thrombosis journal · 2025Article
- Article
- Fibrinogen Oxidation and Thrombosis: Shaping Structure and Function.Antioxidants (Basel, Switzerland) · 2025Review
- Risk factors for hemocoagulase-associated hypofibrinogenemia in patients with gastrointestinal bleeding.World journal of gastrointestinal surgery · 2024Article
- Post-translational modifications of fibrinogen: implications for clotting, fibrin structure and degradation.Molecular biomedicine · 2024Review
- [Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.Blood advances · 2024Article
- Blood Clot Dynamics and Fibrinolysis Impairment in Cancer: The Role of Plasma Histones and DNA.Cancers · 2024Article
- Article
- Clot Retraction and Its Correlation with the Function of Platelet Integrin αBiomedicines · 2023Article
- Review
- Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding.Research and practice in thrombosis and haemostasis · 2023Article
- Shock Index for Early Detection of Low Plasma Fibrinogen in Trauma: A Prospective Observational Cohort Pilot Study.Journal of clinical medicine · 2023Article
- Plant-Derived Compounds and Extracts as Modulators of Plasmin Activity-A Review.Molecules (Basel, Switzerland) · 2023Review
- Risk factors and clinical outcomes associated with acquired hypofibrinogenemia in patients administered hemocoagulase batroxobin for hemoptysis.Journal of thoracic disease · 2023Article
- Concomitant hypofibrinogenemia and factor XI deficiency as rare cause of bleeding during urgent dentistry: case report and short review of the literature.Archive of clinical cases · 2023Article
- Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.Haemophilia : the official journal of the World Federation of Hemophilia · 2022Article
- A Novel Marine Pyran-Isoindolone Compound Enhances Fibrin Lysis Mediated by Single-Chain Urokinase-Type Plasminogen Activator.Marine drugs · 2022Article
- Association between Fibrinogen-to-Albumin Ratio and Prognosis of Hospitalized Patients with COVID-19: A Systematic Review and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital fibrinogen disorders are diseases associated with a bleeding tendency; however, there are also reports of thrombotic events. Fibrinogen plays a role in the pathogenesis of thrombosis due to altered plasma concentrations or modifications to fibrinogen's structural properties, which affect clot permeability, resistance to lysis, and its stiffness. Several distinct types of genetic change and pathogenetic mechanism have been described in patients with bleeding and a thrombotic phenotype, including mutations affecting synthesis or processing in three fibrinogen genes. In this paper, we focused on familial hypofibrinogenemia, a rare inherited quantitative fibrinogen disorder characterized by decreased fibrinogen levels with a high phenotypic heterogeneity. To begin, we briefly review the basic information regarding fibrinogen's structure, its function, and the clinical consequences of low fibrinogen levels. Thereafter, we introduce 15 case reports with various gene mutations derived from the fibrinogen mutation database GFHT (French Study Group on Hemostasis and Thrombosis), which are associated with congenital hypofibrinogenemia with both bleeding and thrombosis. Predicting clinical presentations based on genotype data is difficult. Genotype-phenotype correlations would be of help to better understand the pathologic properties of this rare disease and to provide a valuable tool for the identification of patients who are not only at risk of bleeding, but also at risk of a thrombotic event.
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