Case Report: Laboratory detection of a thrombotic tendency in a family with hypodysfibrinogenemia and a novel
case report
congenital fibrinogen disorders
diagnosis
hypodysfibrinogenemia
phenotype
Journal
Frontiers in cardiovascular medicine
ISSN: 2297-055X
Titre abrégé: Front Cardiovasc Med
Pays: Switzerland
ID NLM: 101653388
Informations de publication
Date de publication:
2024
2024
Historique:
received:
30
08
2024
accepted:
26
09
2024
medline:
30
10
2024
pubmed:
30
10
2024
entrez:
30
10
2024
Statut:
epublish
Résumé
Hypodysfibrinogenemia is a rare congenital fibrinogen disorder (CFD) which may induce thrombotic and bleeding events. Therefore, patient management needs careful evaluation. Routine coagulation tests are inadequate to predict the clinical phenotype. A 60-year-old woman with both bleeding and thrombotic complications and her two daughters were referred to our center for genotypic and phenotypic analysis of a CFD. Conventional laboratory results led to the diagnosis of hypodysfibrinogenemia in all three subjects. They all carried the same heterozygous c.1124A>G mutation in We report on a family with hypodysfibrinogenemia and a novel
Identifiants
pubmed: 39473893
doi: 10.3389/fcvm.2024.1488602
pmc: PMC11518780
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
1488602Informations de copyright
© 2024 Monard, Castoldi, De Simone, Wichapong, van Duijl, van den Biggelaar, Spada, van Doorn, Hellenbrand, van der Meijden, Swieringa, Stork, ten Cate, Beckers, Heubel-Moenen and Henskens.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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