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Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management [PDF]

Diagnostics, 2021
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous,
Tomáš Šimurda, Rosanna Asselta, Dusan Loderer   +2 more
exaly   +4 more sources

The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice [PDF]

Research and Practice in Thrombosis and Haemostasis
Congenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Samin Mohsenian, Alessandro Casini, Flora Peyvandi   +2 more
doaj   +2 more sources

A case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic disorders [PDF]

Clinical Case Reports, 2022
This is a case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic events. His fibrinogen concentration was negatively correlated with thrombin time and prothrombin time and abnormally negatively correlated with plasma D‐dimer levels ...
Lijian Wei, Yuting Tang, Zhuohua Wu, Pingyi Xu, Mingshu Mo   +4 more
doaj   +2 more sources

Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case [PDF]

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, Meredith Manire, Matthew Clarkson, Yazan Samhouri, Deep Shah, Rama Bhagavatula   +5 more
doaj   +2 more sources

Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database. [PDF]

Res Pract Thromb Haemost
Background: Women and girls with congenital fibrinogen deficiencies (CFDs) face higher hemorrhagic risks during their reproductive years, yet data on gynecologic and obstetric complications remain limited.
Mohsenian S, Palla R, Menegatti M, Cairo A, Siboni SM, Neerman-Arbez M, Karimi M, Pargantou H, Asselta R, Mikovic D, Saracevic M, Laros-van Gorkom B, Jacobs L, Shapiro A, Williamson A, Makris M, Casini A, Peyvandi F.   +17 more
europepmc   +3 more sources

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family [PDF]

Hereditas
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected
Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo   +5 more
doaj   +2 more sources

Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria [PDF]

Haemophilia, 2022
Philippe de Mazancourt, Tristan Mirault, Dominique Helley   +2 more
exaly   +2 more sources

Hereditary afibrinogenemia: A literature review and clinical observations [PDF]

Терапевтический архив, 2016
Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L.
E V Yakovleva, V L Surin, D S Selivanova, A M Sergeeva, M V Gonсharova, E Yu Demidova, N P Soboleva, S A Makhinya, A V Dezhenkova, E A Likhacheva, N I Zozulya   +10 more
doaj   +1 more source

Congenital afibrinogenemia in a newborn

Sanamed, 2022
Introduction: Congenital afibrinogenemia is a rare coagulation disorder characterized by a deficiency in the fibrinogen molecule. Fibrinogen is a hexameric glycoprotein consisting of a polypeptide chain encoded by FGB, FGA, and FGG and is required for ...
Özay Mustafa, Kara Mustafa, Keskin Zuhal   +2 more
doaj   +1 more source

Afibrinogenemia: A rare cause of refractory puberty menorrhagia

Iraqi Journal of Hematology, 2022
Excessive menstruation after attaining menarche during adolescent age group is known as puberty menorrhagia (PM). The most common presentation includes anemia due to excessive blood loss.
Vandana Kamatham, Vijayan Sharmila, Thirunavukkarasu Arun Babu   +2 more
doaj   +1 more source