Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature. Issue 1 (27th November 2020)

• Record Type: Journal Article
• Authors: Zdziarska, Joanna; Wypasek, Ewa; Iwaniec, Teresa; Vilar, Rui; Neerman‐Arbez, Marguerite; Undas, Anetta
• Is Part Of: Haemophilia. Volume 27:Issue 1(2021)
• Page Start: 26
• Page End: 32
• Publication Date: 2020-11-27
• Subjects: afibrinogenemia -- bleeding disorders -- fibrinogen -- intracranial bleed; Hemophilia -- Periodicals; 616.1572005
• DOI: 10.1111/hae.14211
• Languages: English
• ISSNs: 1351-8216

Abstract

Abstract: Introduction: Congenital afibrinogenemia is a severe bleeding disorder, sometimes manifesting as thrombosis and/or pregnancy complications. Intracranial haemorrhage (ICH) constitutes the major cause of death in this disease. Methods: We present the case of a male patient with congenital afibrinogenemia, who presented with recurrent intracranial hemorrhages, despite prophylactic fibrinogen substitution. We also review the literature for the risk of intracranial hemorrhages in afibrinogenemia. Result: Molecular analysis revealed a novel homozygous missense mutation in FGB exon 5, p.Cys241 Tyr, that was named "Fibrinogen Krakow V". Discussion and conclusion: Intracranial hemorrhage is a severe manifestation of afibrinogenemia, also in children. The clinical presentation of afibrinogenemia is variable. Fibrinogen substitution carries a risk of thrombotic complications.