Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. [PDF]
Medicine (Baltimore), 2016 International audienceIntroduction: Afibrinogenemia is a rare coagulation disorder. Clinical features of spontaneous bleeding, bleeding after minor trauma, or after surgery have been described as well as thrombo-embolic complications. In this article, we
Malaquin S +5 more
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Liver transplantation as a novel strategy for resolution of congenital afibrinogenemia in a pediatric patient. [PDF]
J Thromb Haemost, 2020 Fibrinogen replacement therapy is a treatment mainstay for patients with afibrinogenemia and significant bleeding. A male infant with congenital afibrinogenemia and several spontaneous hemarthroses commenced cryoprecipitate prophylaxis but developed ...
Corrales-Medina FF +5 more
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Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death
Clinical and Applied Thrombosis/Hemostasis, 2020 Congenital fibrinogen disorders are a group of most frequent rare coagulation disorder, characterized by deficiency and/or defects in the fibrinogen molecule. Quantitative disorders include hypofibrinogenemia and afibrinogenemia.
Yue Teng
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Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population [PDF]
Thrombosis Journal, 2017 Background Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma ...
Arshi Naz +9 more
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Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population [PDF]
Thrombosis Journal, 2019 Following the publication of this article [1], the authors noted the following typographical errors.
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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 ...
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The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice [PDF]
Research and Practice in Thrombosis and HaemostasisCongenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Samin Mohsenian +2 more
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The Clinical Investigator, 1994 We describe a patient with congenital afibrinogenemia who showed elevated prothrombin activation fragments (F1 + 2) indicating increased thrombin formation. This finding was unexpected since it has hitherto been thought that patients with congenital hypo-
W Korte
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Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder
The Indian Anaesthetists' Forum, 2015 Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
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Targeted mutation of zebrafish fga models human congenital afibrinogenemia.
Blood, 2014 Mutations in the human fibrinogen genes can lead to the absence of circulating fibrinogen and cause congenital afibrinogenemia. This rare bleeding disorder is associated with a variable phenotype, which may be influenced by environment and genotype. Here,
Fish RJ, Di Sanza C, Neerman-Arbez M.
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