Congenital structural and functional fibrinogen disorders : a primer for internists

2019
journal article
review article
24
cris.lastimport.wos2024-04-10T00:33:53Z
dc.abstract.enCongenital qualitative and quantitative fibrinogen disorders represent heterogeneous rare abnormalities caused by mutations in one of the 3 genes encoding individual fibrinogen polypeptide chains, located on chromosome 4q28. It is estimated that congenital fibrinogen disorder accounts for 8% of rare coagulation factor deficiencies. Most of congenital fibrinogen disorders are suspected in individuals with bleeding tendency or coincidentally discovered, for instance prior to surgery. Fibrinogen disorders could be also found in patients with thrombotic events, impaired wound healing, and recurrent spontaneous abortions. Afibrinogenemia manifests as mild to severe bleeding, while hypofibrinogenemia is often asymptomatic. Dysfibrinogenemia, a qualitative fibrinogen disorder, is associated with bleeding, thrombosis, or with no symptoms. Recent recommendations issued by the International Society on Thrombosis and Haemostasis in 2018 do not encourage routine evaluation of thrombin time or other coagulation tests in patients with suspected congenital fibrinogen disorders, highlighting the value of fibrinogen antigen measurement and genetic analysis, added to the key finding, that is, reduced fibrinogen concentration determined with a coagulometric assay. The current review summarizes practical issues in diagnostic workup and clinical management of patients with afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia from a perspective of internists who may encounter patients with reduced fibrinogen concentration in everyday practice. Despite the fact that hematologists are in front line for the management of patients with bleeding tendency, internists should be aware of the clinical and laboratory findings in patients with inherited fibrinogen disorders including the risk of thromboembolism and management prior to invasive procedures.pl
dc.affiliationWydział Lekarski : Instytut Kardiologiipl
dc.cm.date2020-12-02
dc.cm.id96983
dc.contributor.authorUndas, Anetta - 133708 pl
dc.contributor.authorCasini, Alessandropl
dc.date.accessioned2020-12-02T10:22:42Zpl
dc.date.available2020-12-02T10:22:42Zpl
dc.date.issued2019pl
dc.date.openaccess0
dc.description.accesstimew momencie opublikowania
dc.description.number12pl
dc.description.physical913-920pl
dc.description.points100pl
dc.description.versionostateczna wersja wydawcy
dc.description.volume129pl
dc.identifier.doi10.20452/pamw.15082pl
dc.identifier.eissn1897-9483pl
dc.identifier.issn0032-3772pl
dc.identifier.projectROD UJ / OPpl
dc.identifier.urihttps://ruj.uj.edu.pl/xmlui/handle/item/256542
dc.languageengpl
dc.language.containerengpl
dc.rightsUdzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Na tych samych warunkach 4.0 Międzynarodowa*
dc.rights.licenceCC-BY-NC-SA
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/legalcode.pl*
dc.share.typeotwarte czasopismo
dc.subject.enafibrinogenemiapl
dc.subject.endysfibrinogenemiapl
dc.subject.enfibrinogenpl
dc.subject.engenetic mutationpl
dc.subtypeReviewArticlepl
dc.titleCongenital structural and functional fibrinogen disorders : a primer for internistspl
dc.title.journalPolskie Archiwum Medycyny Wewnętrznej = Polish Archives of Internal Medicinepl
dc.typeJournalArticlepl
dspace.entity.typePublication
cris.lastimport.wos
2024-04-10T00:33:53Z
dc.abstract.enpl
Congenital qualitative and quantitative fibrinogen disorders represent heterogeneous rare abnormalities caused by mutations in one of the 3 genes encoding individual fibrinogen polypeptide chains, located on chromosome 4q28. It is estimated that congenital fibrinogen disorder accounts for 8% of rare coagulation factor deficiencies. Most of congenital fibrinogen disorders are suspected in individuals with bleeding tendency or coincidentally discovered, for instance prior to surgery. Fibrinogen disorders could be also found in patients with thrombotic events, impaired wound healing, and recurrent spontaneous abortions. Afibrinogenemia manifests as mild to severe bleeding, while hypofibrinogenemia is often asymptomatic. Dysfibrinogenemia, a qualitative fibrinogen disorder, is associated with bleeding, thrombosis, or with no symptoms. Recent recommendations issued by the International Society on Thrombosis and Haemostasis in 2018 do not encourage routine evaluation of thrombin time or other coagulation tests in patients with suspected congenital fibrinogen disorders, highlighting the value of fibrinogen antigen measurement and genetic analysis, added to the key finding, that is, reduced fibrinogen concentration determined with a coagulometric assay. The current review summarizes practical issues in diagnostic workup and clinical management of patients with afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia from a perspective of internists who may encounter patients with reduced fibrinogen concentration in everyday practice. Despite the fact that hematologists are in front line for the management of patients with bleeding tendency, internists should be aware of the clinical and laboratory findings in patients with inherited fibrinogen disorders including the risk of thromboembolism and management prior to invasive procedures.
dc.affiliationpl
Wydział Lekarski : Instytut Kardiologii
dc.cm.date
2020-12-02
dc.cm.id
96983
dc.contributor.authorpl
Undas, Anetta - 133708
dc.contributor.authorpl
Casini, Alessandro
dc.date.accessionedpl
2020-12-02T10:22:42Z
dc.date.availablepl
2020-12-02T10:22:42Z
dc.date.issuedpl
2019
dc.date.openaccess
0
dc.description.accesstime
w momencie opublikowania
dc.description.numberpl
12
dc.description.physicalpl
913-920
dc.description.pointspl
100
dc.description.version
ostateczna wersja wydawcy
dc.description.volumepl
129
dc.identifier.doipl
10.20452/pamw.15082
dc.identifier.eissnpl
1897-9483
dc.identifier.issnpl
0032-3772
dc.identifier.projectpl
ROD UJ / OP
dc.identifier.uri
https://ruj.uj.edu.pl/xmlui/handle/item/256542
dc.languagepl
eng
dc.language.containerpl
eng
dc.rights*
Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Na tych samych warunkach 4.0 Międzynarodowa
dc.rights.licence
CC-BY-NC-SA
dc.rights.uri*
http://creativecommons.org/licenses/by-nc-sa/4.0/legalcode.pl
dc.share.type
otwarte czasopismo
dc.subject.enpl
afibrinogenemia
dc.subject.enpl
dysfibrinogenemia
dc.subject.enpl
fibrinogen
dc.subject.enpl
genetic mutation
dc.subtypepl
ReviewArticle
dc.titlepl
Congenital structural and functional fibrinogen disorders : a primer for internists
dc.title.journalpl
Polskie Archiwum Medycyny Wewnętrznej = Polish Archives of Internal Medicine
dc.typepl
JournalArticle
dspace.entity.type
Publication
Affiliations

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