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 +4 more sources
Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy
Frontiers in Medicine, 2020 A previously hemostatically asymptomatic patient with common variable hypogammaglobulinemia was given everolimus to prevent growth of her liver. Within several months, the patient developed a severe bleeding disorder.
Alisa S Wolberg +2 more
exaly +4 more sources
Fibrin-bound thrombin determines clot structure and blood thrombogenicity in normofibrinogenemia and dysfibrinogenemia [PDF]
HaematologicaIn thrombosis and haemostasis, coagulation and platelet activation pathways culminate to form solid fibrin clots, which can become vaso-occlusive or prevent excessive bleeding.
Siyu Sun +19 more
doaj +3 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
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
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
Blood, 2021 Abstract Congenital dysfibrinogenemia (CD) is caused by structural changes in fibrinogen that modify its function. Diagnosis is based on discrepancy between decreased fibrinogen activity and normal fibrinogen antigen levels and is confirmed by genetic testing.
Casini, Alessandro +1 more
openaire +3 more sources
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
doaj +2 more sources
Acquired dysfibrinogenemia with discordant fibrinogen assays preceding the diagnosis of λ light-chain multiple myeloma: a case report [PDF]
Thrombosis JournalBackground Acquired dysfibrinogenemia is a rare and often underrecognized coagulation disorder characterized by impaired fibrinogen function rather than absolute deficiency.
Xuehan Mao +7 more
doaj +2 more sources
Rapid laboratory identification of fibrinogen Longmont: a case report and literature review [PDF]
Frontiers in MedicineThis study reports a case of a patient with unstable angina with abnormally low fibrinogen (FIB) levels detected during preoperative screening, yet whose clinical manifestations were markedly inconsistent with the test results.
Cuihua Ma +5 more
doaj +2 more sources