Case Report: Co‐Occurrence of Lung Adenocarcinoma and Congenital Dysfibrinogenemia—Diagnostic and Perioperative Management Challenges [PDF]
Cancer ReportsBackground Congenital dysfibrinogenemia (CD), a rare autosomal dominant coagulation disorder, poses significant perioperative challenges in oncologic surgery due to hypofibrinogenemia and variable bleeding‐thrombosis risks.
He Zheng +5 more
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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
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The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report [PDF]
Frontiers in NeurologyBackgroundCongenital dysfibrinogenemia (CD) is a rare hereditary coagulation disorder resulting from mutations in fibrinogen genes. CD primarily presents with bleeding symptoms, but it can also lead to thrombotic events, including ischemic stroke.Case ...
Anna Ying +10 more
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A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family [PDF]
HereditasCongenital 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 +5 more
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Determination of Fibrinogen Ratio Cutoff Limits Using Indirect Reference Interval Methodology. [PDF]
Int J Lab HematolABSTRACT Introduction Discordant fibrinogen antigen to activity ratios are utilized by clinicians as evidence of dysfibrinogenemia. Abnormal ratio cutoffs implemented by clinical laboratories are typically determined by validation studies that include limited numbers of samples.
Saadalla A, Doyle K, Moser K, Smock K.
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Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders [PDF]
, 2021 The outcome of congenital fibrinogen defects (CFD) is often unpredictable. Standard coagulation assays fail to predict the clinical phenotype. We aimed to assess the pheno- and genotypic associations of thrombin generation (TG) and ROTEM in CFD.
Casini, Alessandro +5 more
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Young girl with congenital hypo-dysfibrogenemia presenting with an acute subdural haemorrhage
Asian Journal of Internal Medicine, 2023 Fibrinogen plays a pivotal role in the coagulation cascade. Inherited fibrinogen disorders are a heterogenous group that includes lack or reduced fibrinogen levels or a qualitative disorder of fibrinogen, dysfibrinogenemia.
I. N. Walmsley +3 more
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Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond
Bleeding, Thrombosis and Vascular Biology, 2023 Congenital fibrinogen disorders (CFD) include several types and subtypes of fibrinogen deficiency, resulting from monoallelic or biallelic mutations in one of the three fibrinogen genes. While it is relatively easy to make an accurate diagnosis based on
Cristina Santoro, Alessandro Casini
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Validating the Online Self-Administered Bleeding Assessment Tool (Self-BAT) as a Screening Tool for Bleeding Disorders. [PDF]
HaemophiliaHaemophilia, Volume 32, Issue 1, Page 324-327, January/February 2026.
DeYoung V +5 more
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PB2642: EVALUATION OF INNOVATIVE LABORATORY TESTS TO PREDICT A THROMBOTIC PHENOTYPE IN A FAMILY WITH DYSFIBRINOGENEMIA AND A NOVEL FGG MUTATION. [PDF]
HemaSphere, 2023 Amaury Monard +12 more
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