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
doaj +3 more sources
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
doaj +3 more sources
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
doaj +4 more sources
Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism [PDF]
International Journal of Molecular Sciences, 2023 Variant identification underlying inherited dysfibrinogenemia quite exceptionally fails. We report on two dysfibrinogenemia cases whose underlying DNA variant could not be identified by Sanger analysis. These failures result from two distinct mechanisms.
Philippe De Mazancourt, Michel Hanss
exaly +3 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
Interference of Monoclonal Gammopathy with Fibrinogen Assay Producing Spurious Dysfibrinogenemia [PDF]
TH Open, 2019 Abnormal coagulation properties indicative of a dysfibrinogenemia were found in the plasma of an asymptomatic 65-year-old male. An immunoglobulin k light chain was found to interfere with Fg functional assay and coagulation tests (activated partial ...
Francesca Martini +6 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 ...
Megan Langer +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
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
doaj +2 more sources