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.

Joanna ZdziarskaEwa WypasekTeresa IwaniecRui VilarMarguerite Neerman-ArbezAnetta Undas

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2020)

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.

Keyphrases

optic nerve
young adults
case report
atrial fibrillation
early onset
risk factors
drug induced