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
doaj +8 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 +3 more sources
Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database [PDF]
Research and Practice in Thrombosis and HaemostasisBackground: 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.
Samin Mohsenian +17 more
doaj +5 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
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
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 +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
doaj +2 more sources
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
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, Yazan Samhouri, Deep Shah
exaly +2 more sources
Severe haemorrhagic diathesis due to acquired hypofibrinogenemia in a patient with early T-cell precursor acute lymphoblastic leukaemia/lymphoma: a case report [PDF]
Frontiers in Cardiovascular Medicine, 2023 The most frequent haematological malignancy associated with acquired hypo/dysfibrinogenemia is multiple myeloma. We present an unusual case of severe haemorrhagic diathesis due to acquired hypofibrinogenemia in a patient with early T-cell precursor acute
Luca Spiezia +4 more
doaj +2 more sources