Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond
Congenital fibrinogen disorders (CFD) include several types and subtypes of fibrinogen deficiency, resulting from monoallelic or biallelic mutations in one of the three fibrinogen genes. While it is relatively easy to make an accurate diagnosis based on activity and antigen levels of fibrinogen and...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2023-08-01
|
| Series: | Bleeding, Thrombosis and Vascular Biology |
| Subjects: | |
| Online Access: | https://www.btvb.org/btvb/article/view/75 |
| _version_ | 1797224566752280576 |
|---|---|
| author | Cristina Santoro Alessandro Casini |
| author_facet | Cristina Santoro Alessandro Casini |
| author_sort | Cristina Santoro |
| collection | DOAJ |
| description |
Congenital fibrinogen disorders (CFD) include several types and subtypes of fibrinogen deficiency, resulting from monoallelic or biallelic mutations in one of the three fibrinogen genes. While it is relatively easy to make an accurate diagnosis based on activity and antigen levels of fibrinogen and genotype, prediction of the clinical phenotype is challenging. Even among patients with the same genotype, the clinical features are heterogeneous and unpredictable. The development of next-generation sequencing rises the possibility to integrate genetic modifiers to explain the subtle relationship between genotype and clinical phenotype. A recent development in integrative hemostasis assays can also help in the determination of patients at risk of bleeding or thrombosis. In this short review, we go through these topics and explain why CFD could be considered an oligogenic rather than a monogenic disease.
|
| first_indexed | 2024-04-24T13:55:10Z |
| format | Article |
| id | doaj.art-d8717d3a092b4f83ae1ecaf686dada55 |
| institution | Directory Open Access Journal |
| issn | 2785-5309 |
| language | English |
| last_indexed | 2024-04-24T13:55:10Z |
| publishDate | 2023-08-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Bleeding, Thrombosis and Vascular Biology |
| spelling | doaj.art-d8717d3a092b4f83ae1ecaf686dada552024-04-03T21:50:32ZengPAGEPress PublicationsBleeding, Thrombosis and Vascular Biology2785-53092023-08-012310.4081/btvb.2023.75Addressing some challenges of congenital fibrinogen disorders in 2023 and beyondCristina Santoro0Alessandro Casini1https://orcid.org/0000-0001-7910-933XHematology Unit, Azienda Ospedaliera Universitaria Policlinico Umberto I, RomeDivision of Angiology and Hemostasis, Faculty of Medicine, University Hospitals of Geneva Congenital fibrinogen disorders (CFD) include several types and subtypes of fibrinogen deficiency, resulting from monoallelic or biallelic mutations in one of the three fibrinogen genes. While it is relatively easy to make an accurate diagnosis based on activity and antigen levels of fibrinogen and genotype, prediction of the clinical phenotype is challenging. Even among patients with the same genotype, the clinical features are heterogeneous and unpredictable. The development of next-generation sequencing rises the possibility to integrate genetic modifiers to explain the subtle relationship between genotype and clinical phenotype. A recent development in integrative hemostasis assays can also help in the determination of patients at risk of bleeding or thrombosis. In this short review, we go through these topics and explain why CFD could be considered an oligogenic rather than a monogenic disease. https://www.btvb.org/btvb/article/view/75Afibrinogenemiahypofibrinogenemiadysfibrinogenemiafibrinogen |
| spellingShingle | Cristina Santoro Alessandro Casini Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond Bleeding, Thrombosis and Vascular Biology Afibrinogenemia hypofibrinogenemia dysfibrinogenemia fibrinogen |
| title | Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond |
| title_full | Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond |
| title_fullStr | Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond |
| title_full_unstemmed | Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond |
| title_short | Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond |
| title_sort | addressing some challenges of congenital fibrinogen disorders in 2023 and beyond |
| topic | Afibrinogenemia hypofibrinogenemia dysfibrinogenemia fibrinogen |
| url | https://www.btvb.org/btvb/article/view/75 |
| work_keys_str_mv | AT cristinasantoro addressingsomechallengesofcongenitalfibrinogendisordersin2023andbeyond AT alessandrocasini addressingsomechallengesofcongenitalfibrinogendisordersin2023andbeyond |