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.
Haemophilia
; 27(1): 26-32, 2021 Jan.
Article
in En
| MEDLINE
| ID: mdl-33245842
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 ANDCONCLUSION:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Afibrinogenemia
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Haemophilia
Journal subject:
HEMATOLOGIA
Year:
2021
Type:
Article
Affiliation country:
Poland