Congenital fibrinogen disorders: a retrospective clinical and
genetic analysis of the Prospective Rare Bleeding Disorders
Database

J 2024

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database

MOHSENIAN, Samin; Roberta PALLA; Marzia MENEGATTI; Andrea CAIRO; Anna LECCHI et al.

Základní údaje

Originální název

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database

Autoři

MOHSENIAN, Samin; Roberta PALLA; Marzia MENEGATTI; Andrea CAIRO; Anna LECCHI; Alessandro CASINI; Marguerite NEERMAN-ARBEZ; Rosanna ASSELTA; Sara SCARDO; Simona Maria SIBONI; Jan BLATNÝ; Ondřej ZAPLETAL; Jean-Francois SCHVED; Muriel GIANSILY-BLAIZOT; Susan HALIMEH; Mohamad Ayman DAOUD; Helen PLATOKOUKI; Helen PERGANTOU; Roger E G SCHUTGENS; Van Haaften-Spoor MONIQUE; Paul BRONS; Britta Laros-van GORKOM; Van Pinxten ELISE; Munira BORHANY; Naveena FATIMA; Danijela MIKOVIC; Marko SARACEVIC; Gul Nihal OZDEMIR; Yilmaz AY; Michael MAKRIS; Caryl LOCKLEY; Andrew MUMFORD; Andrew HARVEY; Steve AUSTIN; Amy SHAPIRO; Adrianna WILLIAMSON; Catherine MCGUINN; Ilene GOLDBERG; Philippe DE MOERLOOSE a Flora PEYVANDI

Vydání

Blood advances, AMSTERDAM, ELSEVIER, 2024, 2473-9529

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 7.100

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/24:00138886

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Congenital fibrinogen disorders

Štítky

14110321, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 3. 2025 09:48, Mgr. Tereza Miškechová

Anotace

V originále

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 dys fibrinogenemia. Obstetric complications were commonly observed in dys fibrinogenemia. 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.

Citovat

@article{2478478,
   author = {Mohsenian, Samin and Palla, Roberta and Menegatti, Marzia and Cairo, Andrea and Lecchi, Anna and Casini, Alessandro and NeermanandArbez, Marguerite and Asselta, Rosanna and Scardo, Sara and Siboni, Simona Maria and Blatný, Jan and Zapletal, Ondřej and Schved, JeanandFrancois and GiansilyandBlaizot, Muriel and Halimeh, Susan and Daoud, Mohamad Ayman and Platokouki, Helen and Pergantou, Helen and Schutgens, Roger E G and Monique, Van HaaftenandSpoor and Brons, Paul and Gorkom, Britta Larosandvan and Elise, Van Pinxten and Borhany, Munira and Fatima, Naveena and Mikovic, Danijela and Saracevic, Marko and Ozdemir, Gul Nihal and Ay, Yilmaz and Makris, Michael and Lockley, Caryl and Mumford, Andrew and Harvey, Andrew and Austin, Steve and Shapiro, Amy and Williamson, Adrianna and McGuinn, Catherine and Goldberg, Ilene and De Moerloose, Philippe and Peyvandi, Flora},
   article_location = {AMSTERDAM},
   article_number = {6},
   doi = {https://doi.org/10.1182/bloodadvances.2023012186},
   keywords = {Congenital fibrinogen disorders},
   language = {eng},
   issn = {2473-9529},
   journal = {Blood advances},
   title = {Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database},
   url = {https://ashpublications.org/bloodadvances/article/8/6/1392/514755/Congenital-fibrinogen-disorders-a-retrospective},
   volume = {8},
   year = {2024}
}

TY  - JOUR
ID  - 2478478
AU  - Mohsenian, Samin - Palla, Roberta - Menegatti, Marzia - Cairo, Andrea - Lecchi, Anna - Casini, Alessandro - Neerman-Arbez, Marguerite - Asselta, Rosanna - Scardo, Sara - Siboni, Simona Maria - Blatný, Jan - Zapletal, Ondřej - Schved, Jean-Francois - Giansily-Blaizot, Muriel - Halimeh, Susan - Daoud, Mohamad Ayman - Platokouki, Helen - Pergantou, Helen - Schutgens, Roger E G - Monique, Van Haaften-Spoor - Brons, Paul - Gorkom, Britta Laros-van - Elise, Van Pinxten - Borhany, Munira - Fatima, Naveena - Mikovic, Danijela - Saracevic, Marko - Ozdemir, Gul Nihal - Ay, Yilmaz - Makris, Michael - Lockley, Caryl - Mumford, Andrew - Harvey, Andrew - Austin, Steve - Shapiro, Amy - Williamson, Adrianna - McGuinn, Catherine - Goldberg, Ilene - De Moerloose, Philippe - Peyvandi, Flora
PY  - 2024
TI  - Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database
JF  - Blood advances
VL  - 8
IS  - 6
SP  - 1392-1404
EP  - 1392-1404
PB  - ELSEVIER
SN  - 24739529
KW  - Congenital fibrinogen disorders
UR  - https://ashpublications.org/bloodadvances/article/8/6/1392/514755/Congenital-fibrinogen-disorders-a-retrospective
N2  - 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 dys fibrinogenemia. Obstetric complications were commonly observed in dys fibrinogenemia. 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.
ER  -

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