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Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database
S. Mohsenian, R. Palla, M. Menegatti, A. Cairo, A. Lecchi, A. Casini, M. Neerman-Arbez, R. Asselta, S. Scardo, SM. Siboni, J. Blatny, O. Zapletal, JF. Schved, M. Giansily-Blaizot, S. Halimeh, MA. Daoud, H. Platokouki, H. Pergantou, REG....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu multicentrická studie, časopisecké články
NLK
PubMed Central
od 2016
Europe PubMed Central
od 2016
Elsevier Open Access Journals
od 2021-10-26
ROAD: Directory of Open Access Scholarly Resources
od 2016
- MeSH
- afibrinogenemie * epidemiologie genetika komplikace MeSH
- fibrinogen genetika MeSH
- hemostatika * MeSH
- krvácení genetika MeSH
- lidé MeSH
- prospektivní studie MeSH
- retrospektivní studie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Congenital 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.
Coagulation Centre Rhein Ruhr Duisburg Germany
Department of Biological Hematology CHU Montpellier Université de Montpellier Montpellier France
Department of Biomedical Sciences Humanitas University Milan Italy
Department of Haematology Guys and St Thomas' NHS Foundation Trust London United Kingdom
Department of Hematology Radboud University Medical Center Nijmegen The Netherlands
Department of Pathophysiology and Transplantation Università degli Studi di Milano Milan Italy
Department of Pediatric Hematology Radboud University Medical Center Nijmegen The Netherlands
Haemophilia Centre Haemostasis Unit Aghia Sophia Children's Hospital Athens Greece
Hemostasis Department Blood Transfusion Institute of Serbia Belgrade Serbia
Indiana Hemophilia and Thrombosis Center Indianapolis IN
IRCCS Humanitas Research Hospital Milan Italy
Pediatric Hematology Department Istinye University Istanbul Turkey
School of Cellular and Molecular Medicine University of Bristol Bristol United Kingdom
Sheffield Haemophilia and Thrombosis Centre Royal Hallamshire Hospital Sheffield United Kingdom
Citace poskytuje Crossref.org
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