ArticleBlood advances2024
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Article in Blood advances, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- [Hereditary disorders of hemostasis in obstetrics 2/2-Anesthesiological aspects of secondary hemostasis].Die Anaesthesiologie · 2026Review
- Fibrinogen Concentrate in Acute Hemorrhage: Mechanistic Insight, Thresholds, and Targeted Replacement.Journal of clinical medicine · 2026Review
- Deep Dive into Evolution: How Cetaceans Adapt Their Anticoagulant Genes for Underwater Survival.Journal of molecular evolution · 2026Article
- Investigation for Bleeding Disorders in Suspected Non-Accidental Intracranial Haemorrhage.Journal of paediatrics and child health · 2026Article
- Identification of genetic variants in the FGB gene associated with congenital hypofibrinogenemia with divergent clinical phenotype.Annals of hematology · 2026Article
- Management of Hereditary Hypofibrinogenemia During Pregnancy: A Scoping Review Towards Personalized Obstetric Care.Journal of clinical medicine · 2026Review
- An exploratory plasma-based functional assay for phenotypic characterization of fibrinolysis in dysfibrinogenemia.Research and practice in thrombosis and haemostasis · 2026Article
- Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.Journal of thrombosis and thrombolysis · 2026Review
- Pregnancy management for patients with bleeding disorders.Hematology. American Society of Hematology. Education Program · 2025Review
- Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.Thrombosis and haemostasis · 2025Article
- Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database.Research and practice in thrombosis and haemostasis · 2025Article
- The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice.Research and practice in thrombosis and haemostasis · 2025Review
- Severe Hereditary Hypofibrinogenemia in Pregnancy: A Case Report of a Novel Obstetrical Management with Thromboelastometry Guided Fibrinogen Supplementation.Diagnostics (Basel, Switzerland) · 2025Article
- Management of patients with congenital bleeding disorders and cardiac indications for antithrombotic therapy.European heart journal. Cardiovascular pharmacotherapy · 2025Review
- Congenital Hypofibrinogenemia is a Potential Risk Factor for Ischemic StrokeBalkan medical journal · 2024Article
- [Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Regulation of fibrinogen synthesis.Thrombosis research · 2024Review
- Rare inherited coagulation disorders: no longer orphan and neglected.Research and practice in thrombosis and haemostasis · 2024Review
- Case Report: Laboratory detection of a thrombotic tendency in a family with hypodysfibrinogenemia and a novelFrontiers in cardiovascular medicine · 2024Article
- Laboratory and Clinical Analysis of Rare Coagulation Factor Deficiencies-A Respective Study of a Single Center from Northwest China.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
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Authors and funding
40 authors at 18 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
abstractCongenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, and genetic features were investigated using retrospective data from the PRO-RBDD. Patients were classified from asymptomatic to grade 3 based on their bleeding severity. In addition, FGA, FGB, and FGG were sequenced to find causative variants. A total of 166 CFD cases from 16 countries were included, of whom 123 (30 afibrinogenemia, 33 hypofibrinogenemia, 55 dysfibrinogenemia, and 5 hypodysfibrinogenemia) were well characterized. Considering the previously established factor activity and antigen level thresholds, bleeding severity was correctly identified in 58% of the cases. The rates of thrombotic events among afibrinogenemic and hypofibrinogenemic patients were relatively similar (11% and 10%, respectively) and surprisingly higher than in dysfibrinogenemic cases. The rate of spontaneous abortions among 68 pregnancies was 31%, including 86% in dysfibrinogenemic women and 14% with hypofibrinogenemia. Eighty-six patients received treatment (69 on-demand and/or 17 on prophylaxis), with fibrinogen concentrates being the most frequently used product. Genetic analysis was available for 91 cases and 41 distinct variants were identified. Hotspot variants (FGG, p.Arg301Cys/His and FGA, p.Arg35Cys/His) were present in 51% of dysfibrinogenemia. Obstetric complications were commonly observed in dysfibrinogenemia. This large multicenter study provided a comprehensive insight into the clinical, laboratory, and genetic history of patients with CFDs. We conclude that bleeding severity grades were in agreement with the established factor activity threshold in nearly half of the cases with quantitative defects.
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