Thrombosis Journal, 2018 Background Patients with congenital afibrinogenemia suffer from spontaneous recurrent severe bleeding. While fibrinogen concentrates are known to effectively treat bleeding episodes, thrombotic complications often occur upon replacement therapy ...
S. Le Quellec +6 more
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Spontaneous intracranial bleeding in a neonate with congenital afibrinogenemia [PDF]
, 2010 Congenital afibrinogenemia, a very rare autosomal recessive coagulation disorder, is characterized by undetectable and extremely low antigen levels of fibrinogen in plasma.
Celkan, Tülin Tıraje +6 more
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Acta Médica Portuguesa, 1998 The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha +7 more
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Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case
Research and Practice in Thrombosis and Haemostasis, 2021 Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a ...
Megan Langer +5 more
doaj +1 more source
A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia [PDF]
, 2019 Background: Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known.
Yasemin Coban +16 more
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Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene
Pediatric Reports, 2021 Detection of severe hypofibrinogenemia (
Jun Shinozuka +6 more
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A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations [PDF]
, 2015 Although congenital afibrinogenemia is a rare autosomal recessive bleeding disorder, it can be more frequently encountered in countries where consanguineous marriages are common.
KARAKÜKCÜ, Musa +6 more
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Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management [PDF]
, 2020 Fibrinogen is a complex protein playing a major role in coagulation. Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. Even though the clinical course is unpredictable and can be
De Moerloose, Philippe +2 more
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family [PDF]
, 2011 Congenital afibrinogenemia is a rare autosomal recessive coagulation disorder characterized essentially by bleeding symptoms, but miscarriages and, paradoxically, thromboembolic events can also occur.
Emmanuel Levrat +15 more
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Pharmacokinetics, surrogate efficacy and safety evaluations of a new human plasma-derived fibrinogen concentrate (FIB Grifols) in adult patients with congenital afibrinogenemia [PDF]
, 2021 Background and aims: Congenital afibrinogenemia is a rare coagulation disorder resulting from a deficiency in fibrinogen. This study assessed the pharmacokinetics, surrogate efficacy and safety of FIB Grifols, a new human plasma-derived fibrinogen ...
Subramanian S. +12 more
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