ReviewDiagnostics (Basel, Switzerland)2021
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management.
Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 61 citations in OpenAlex.
- Coagulation Assessment and Fibrinogen Thresholds in Therapeutic Plasma Exchange-A Narrative Review.Biomolecules · 2026Review
- Pharmacokinetics, Hemostatic Efficacy, and Safety of a New Human Fibrinogen Concentrate in Adult and Pediatric Patients with Congenital Fibrinogen Deficiency.Thrombosis and haemostasis · 2026Article
- Congenital Afibrinogenemia with Novel Mutation in Early Childhood.Indian journal of pediatrics · 2026Article
- Article
- Identification of genetic variants in the FGB gene associated with congenital hypofibrinogenemia with divergent clinical phenotype.Annals of hematology · 2026Article
- A host defense role for Fibrinogen by direct binding of Clostridium botulinum C2 toxin.Cellular and molecular life sciences : CMLS · 2026Article
- Quantitative fibrinogen disorders: A retrospective study from a tertiary care centre in India.The Indian journal of medical research · 2026Article
- Biomarkers of Coagulation Disorders-Where to from Here?Biomolecules · 2026Review
- Preclinical safety and bleeding evaluation in swine for a small interfering RNA-lipid nanoparticle that prevents excess fibrinogen synthesis.Journal of thrombosis and haemostasis : JTH · 2026Article
- Society for Perioperative Assessment and Quality Improvement: a narrative review of best practices for perioperative management of patients with bleeding disorders.British journal of anaesthesia · 2025Review
- Identification of Risk Factors and Predictive Indicators for Tigecycline-Associated Hypofibrinogenemia.Clinical and translational science · 2025Observational
- "No End Point Detected": A Unique Coagulation Profile Unmasking Dysfibrinogenemia.Case reports in hematology · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia.Journal of clinical laboratory analysis · 2024Article
- A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.Hereditas · 2024Article
- Basic Principles of Rotational Thromboelastometry (ROTEMDiagnostics (Basel, Switzerland) · 2023Review
- Article
- 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
- Are Viscoelastometric Assays of Old Generation Ready for Disposal? Comment on Volod et al. Viscoelastic Hemostatic Assays: A Primer on Legacy and New Generation Devices.Journal of clinical medicine · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous, being associated with bleeding, thrombosis, or absence of symptoms. Afibrinogenemia and hypofibrinogenemia are the consequence of mutations in the homozygous, heterozygous, or compound heterozygous state in one of three genes encoding the fibrinogen chains, which can affect the synthesis, assembly, intracellular processing, stability, or secretion of fibrinogen. In addition to standard coagulation tests depending on the formation of fibrin, diagnostics also includes global coagulation assays, which are effective in monitoring the management of replacement therapy. Genetic testing is a key point for confirming the clinical diagnosis. The identification of the precise genetic mutations of congenital fibrinogen disorders is of value to permit early testing of other at risk persons and better understand the correlation between clinical phenotype and genotype. Management of patients with afibrinogenemia is particularly challenging since there are no data from evidence-based medicine studies. Fibrinogen concentrate is used to treat bleeding, whereas for the treatment of thrombotic complications, administered low-molecular-weight heparin is most often. This review deals with updated information about afibrinogenemia and hypofibrinogenemia, contributing to the early diagnosis and effective treatment of these disorders.
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