Hereditary afibrinogenemia: A literature review and clinical observations
Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifu...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
"Consilium Medicum" Publishing house
2016-12-01
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| Series: | Терапевтический архив |
| Subjects: | |
| Online Access: | https://ter-arkhiv.ru/0040-3660/article/viewFile/32130/pdf |
| _version_ | 1828954887745961984 |
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| author | E V Yakovleva V L Surin D S Selivanova A M Sergeeva M V Gonсharova E Yu Demidova N P Soboleva S A Makhinya A V Dezhenkova E A Likhacheva N I Zozulya |
| author_facet | E V Yakovleva V L Surin D S Selivanova A M Sergeeva M V Gonсharova E Yu Demidova N P Soboleva S A Makhinya A V Dezhenkova E A Likhacheva N I Zozulya |
| author_sort | E V Yakovleva |
| collection | DOAJ |
| description | Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifunctional role of fibrinogen in hemostasis. The described cases demonstrate different clinical phenotypes of the disease. In both cases the diagnosis was confirmed by genetic examinations that revealed homozygous mutations in the fibrinogen A genes. The nature of the mutations assumes consanguineous marriages, as confirmed by the results of a genealogical analysis. Fibrinogen preparations are promising in treating afibrinogenemia in Russia. |
| first_indexed | 2024-12-14T07:38:48Z |
| format | Article |
| id | doaj.art-58e020fe91b649adaaa22291503cf6bb |
| institution | Directory Open Access Journal |
| issn | 0040-3660 2309-5342 |
| language | Russian |
| last_indexed | 2024-12-14T07:38:48Z |
| publishDate | 2016-12-01 |
| publisher | "Consilium Medicum" Publishing house |
| record_format | Article |
| series | Терапевтический архив |
| spelling | doaj.art-58e020fe91b649adaaa22291503cf6bb2022-12-21T23:11:06Zrus"Consilium Medicum" Publishing houseТерапевтический архив0040-36602309-53422016-12-01881212012510.17116/terarkh20168812120-12529145Hereditary afibrinogenemia: A literature review and clinical observationsE V YakovlevaV L SurinD S SelivanovaA M SergeevaM V GonсharovaE Yu DemidovaN P SobolevaS A MakhinyaA V DezhenkovaE A LikhachevaN I ZozulyaAfibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifunctional role of fibrinogen in hemostasis. The described cases demonstrate different clinical phenotypes of the disease. In both cases the diagnosis was confirmed by genetic examinations that revealed homozygous mutations in the fibrinogen A genes. The nature of the mutations assumes consanguineous marriages, as confirmed by the results of a genealogical analysis. Fibrinogen preparations are promising in treating afibrinogenemia in Russia.https://ter-arkhiv.ru/0040-3660/article/viewFile/32130/pdfafibrinogenemiarare hereditary coagulopathiescongenital fibrinogen deficiencyhereditary disorders of fibrinogen formation |
| spellingShingle | E V Yakovleva V L Surin D S Selivanova A M Sergeeva M V Gonсharova E Yu Demidova N P Soboleva S A Makhinya A V Dezhenkova E A Likhacheva N I Zozulya Hereditary afibrinogenemia: A literature review and clinical observations Терапевтический архив afibrinogenemia rare hereditary coagulopathies congenital fibrinogen deficiency hereditary disorders of fibrinogen formation |
| title | Hereditary afibrinogenemia: A literature review and clinical observations |
| title_full | Hereditary afibrinogenemia: A literature review and clinical observations |
| title_fullStr | Hereditary afibrinogenemia: A literature review and clinical observations |
| title_full_unstemmed | Hereditary afibrinogenemia: A literature review and clinical observations |
| title_short | Hereditary afibrinogenemia: A literature review and clinical observations |
| title_sort | hereditary afibrinogenemia a literature review and clinical observations |
| topic | afibrinogenemia rare hereditary coagulopathies congenital fibrinogen deficiency hereditary disorders of fibrinogen formation |
| url | https://ter-arkhiv.ru/0040-3660/article/viewFile/32130/pdf |
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