Pseudohomozygous dysfibrinogenemia [PDF]
Research and Practice in Thrombosis and Haemostasis, 2021 Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful ...
Rachel C. Peck +5 more
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Laboratory and Clinical Analysis of Rare Coagulation Factor Deficiencies—A Respective Study of a Single Center from Northwest China [PDF]
Clinical and Applied Thrombosis/HemostasisObjective Rare coagulation factor deficiencies (RCFDs) is a disease characterized by heterogeneous clinical manifestations and low prevalence. This study aimed to thoroughly analyze the clinical characteristics, routine laboratory results, and ...
Junling Li MS, Yanxia Liu, Li Yuan MS
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Coexistence of Congenital Dysfibrinogenemia and Antiphospholipid Syndrome in Pregnancy: A Case Report [PDF]
International Journal of Women's HealthZi Wang,1,* Su Mao,2,3,* Shujie Wang,1 Wen Zhang,4 Congwei Jia,5 Tienan Zhu1 1Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People’s Republic ...
Wang Z +5 more
exaly +4 more sources
An exploratory plasma-based functional assay for phenotypic characterization of fibrinolysis in dysfibrinogenemia [PDF]
Research and Practice in Thrombosis and HaemostasisBackground: Congenital dysfibrinogenemia exhibits heterogeneous clinical phenotypes, ranging from bleeding to thrombosis. However, conventional fibrinogen assays primarily evaluate clot formation alone.
Atsuo Suzuki +7 more
doaj +2 more sources
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 ...
Deep Shāh +2 more
exaly +2 more sources
Spinal anesthesia in a patient with hereditary dysfibrinogenemia who underwent emergency cesarean delivery: a case report [PDF]
JA Clinical ReportsBackground Dysfibrinogenemia causes abnormal fibrinogen production, leading to thrombotic or bleeding complications, which are relative contraindications for neuraxial anesthesia.
Sae Ono +6 more
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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
doaj +2 more sources
“No End Point Detected”: A Unique Coagulation Profile Unmasking Dysfibrinogenemia [PDF]
Case Reports in HematologyDysfibrinogenemia is a rare qualitative fibrinogen disorder that can present with bleeding, thrombosis, or both. We report a case of a young woman with first-trimester pregnancy loss and severe hemorrhage, whose coagulation tests reported “no end point ...
Kelsey Uminski, Xiu Yan Jiang
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Implications of the c.1201C > G (p.Arg401Gly) mutation in FGG gene on fibrinogen stability and function [PDF]
Frontiers in MedicineCongenital dysfibrinogenemia, a rare coagulation disorder characterized by decreased fibrinogen activity while antigen level is usually normal. We conducted a study on a three-generation family comprising 15 members, among whom three individuals were ...
Jingyi Lu +6 more
doaj +2 more sources
Multidisciplinary team management of congenital dysfibrinogenemia in pregnancy: a case report [PDF]
BMC Pregnancy and ChildbirthBackground Congenital dysfibrinogenemia is a rare autosomal dominant disorder involving abnormal fibrinogen function, leading to variable risks of bleeding and thrombosis.
Meng Jie He +3 more
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