Case Report: Laboratory detection of a thrombotic tendency in a family with hypodysfibrinogenemia and a novel FGG mutation

IntroductionHypodysfibrinogenemia 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.Clinical findingsA 60-year-old woman wi...

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Autors principals:	Amaury Monard, Elisabetta Castoldi, Ilaria De Simone, Kanin Wichapong, Tirsa van Duijl, Maartje van den Biggelaar, Stefano Spada, William van Doorn, Dave Hellenbrand, Paola van der Meijden, Frauke Swieringa, Alexander Stork, Hugo ten Cate, Erik Beckers, Floor Heubel-Moenen, Yvonne Henskens
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-10-01
Col·lecció:	Frontiers in Cardiovascular Medicine
Matèries:	congenital fibrinogen disorders hypodysfibrinogenemia diagnosis phenotype case report
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fcvm.2024.1488602/full
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