Congenital Dysfibrinogenemia

A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both. Mutations in the FGA and FGB genes have been identified. OMIM: 616004

Also Known As:

Networked: 64 relevant articles (1 outcomes, 5 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hemorrhage
2.	Thrombosis (Thrombus)
3.	Rare Diseases (Rare Disease)
4.	Thrombophilia
5.	Inborn Genetic Diseases (Disease, Hereditary)

Experts

1.	Lin, Faquan: 6 articles (03/2022 - 04/2016)
2.	Yan, Jie: 6 articles (03/2022 - 04/2016)
3.	Luo, Meiling: 5 articles (03/2022 - 04/2016)
4.	Cheng, Peng: 5 articles (12/2021 - 04/2016)
5.	Deng, Donghong: 5 articles (12/2021 - 04/2016)
6.	Xiang, Liqun: 4 articles (03/2022 - 09/2016)
7.	Deng, Xuelian: 4 articles (05/2018 - 04/2016)
8.	Liao, Lin: 4 articles (05/2018 - 04/2016)
9.	Kotlín, Roman: 3 articles (10/2014 - 09/2009)
10.	Wu, Yangyang: 2 articles (03/2022 - 12/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Dysfibrinogenemia:

1.	Fibrinogen (Factor I)FDA Link 05/01/2018 - "Receiver operating characteristic (ROC) curves were utilized to evaluate the efficacy of fibrinogen PT-derived/Clauss ratio in screening for congenital dysfibrinogenemia. " 05/01/2018 - "In this study, the significance of fibrinogen concentration assessed by a combination of Clauss and prothrombin time (PT)-derived methods for screening for congenital dysfibrinogenemia were investigated, and the screening efficiency of fibrinogen PT-derived/Clauss ratio on congenital dysfibrinogenemia was analyzed. " 01/01/1992 - "Severe congenital dysfibrinogenemia (fibrinogen-Riyadh): a family study." 09/01/2022 - "When the fibrinogen (Clauss method) is significantly reduced and the thrombin time is prolonged, PT-derived method and the investigation of family coagulation function should be added, which can be used to diagnose and distinguish congenital dysfibrinogenemia from hypofibrinogenemia." 03/01/2022 - "Asymptomatic patients with congenital dysfibrinogenemia do not need cryoprecipitate or fibrinogen input before major surgery."
2.	FibrinIBA 06/01/2015 - "Functional analysis of polymerization and fibrinolysis, structural studies of the fibrin network and the viscoelastic properties of fibrin clot could help to predict the phenotype of congenital dysfibrinogenemia, but have not yet been evaluated in detail. " 02/15/2001 - "In conclusion, this newly discovered congenital dysfibrinogenemia has a delayed clotting time and leads to the formation of an altered fibrin structure, which could not be cross-linked by TG and which is less supportive for ingrowth of endothelial cells." 01/01/1987 - "This defective lysis may be due to a defective enhancement by the abnormal fibrin of plasminogen activation by tpA, as demonstrated for fibrinogen Dusard, a congenital dysfibrinogenemia associated with a very severe thrombotic disorder. " 09/30/1975 - "Proceedings: A new type of congenital dysfibrinogenemia (fibrinogen Tokyo) with defective stabilization of fibrin polymers." 10/15/1993 - "Fibrinogen Dusart is a congenital dysfibrinogenemia (A-alpha 554 Arginine-->Cysteine) associated with severe thrombotic disorder, high incidence of thrombotic embolism, and abnormal fibrin polymerization. "
3.	Arginine (L-Arginine)FDA Link 01/01/1996 - "Ultrastructural perturbations resulting from defects in polymerization of fibrinogen Dusart, a congenital dysfibrinogenemia with the amino acid substitution A alpha 554 arginine to cysteine, were investigated by a variety of electron microscope studies. " 09/01/1989 - "This congenital dysfibrinogenemia with an A alpha arginine (Arg) to histidine (His) substitution was tentatively designated as fibrinogen Sapporo. " 10/15/1993 - "Fibrinogen Dusart is a congenital dysfibrinogenemia (A-alpha 554 Arginine-->Cysteine) associated with severe thrombotic disorder, high incidence of thrombotic embolism, and abnormal fibrin polymerization. "
4.	fibrinogen DusardIBA 01/01/1996 - "Ultrastructural perturbations resulting from defects in polymerization of fibrinogen Dusart, a congenital dysfibrinogenemia with the amino acid substitution A alpha 554 arginine to cysteine, were investigated by a variety of electron microscope studies. " 01/01/1987 - "This defective lysis may be due to a defective enhancement by the abnormal fibrin of plasminogen activation by tpA, as demonstrated for fibrinogen Dusard, a congenital dysfibrinogenemia associated with a very severe thrombotic disorder. " 10/15/1993 - "Fibrinogen Dusart is a congenital dysfibrinogenemia (A-alpha 554 Arginine-->Cysteine) associated with severe thrombotic disorder, high incidence of thrombotic embolism, and abnormal fibrin polymerization. "
5.	Cysteine (L-Cysteine)FDA Link 01/01/1996 - "Ultrastructural perturbations resulting from defects in polymerization of fibrinogen Dusart, a congenital dysfibrinogenemia with the amino acid substitution A alpha 554 arginine to cysteine, were investigated by a variety of electron microscope studies. " 10/15/1993 - "Fibrinogen Dusart is a congenital dysfibrinogenemia (A-alpha 554 Arginine-->Cysteine) associated with severe thrombotic disorder, high incidence of thrombotic embolism, and abnormal fibrin polymerization. "
6.	AntigensIBA 03/01/2022 - "Four congenital dysfibrinogenemia patients all showed prolonged TT, low level of activity fibrinogen and normal fibrinogen antigen. " 01/01/2020 - "Congenital dysfibrinogenemia (CD) is a rare hereditary fibrinogen disorder characterized by normal fibrinogen antigen levels associated with lower functional activities. " 06/01/2015 - "Congenital dysfibrinogenemia is a qualitative congenital fibrinogen disorder characterized by normal antigen levels of a dysfunctional fibrinogen. " 07/01/2017 - "Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. "
7.	Threonine (L-Threonine)FDA Link 09/01/2012 - "Fibrinogen Tokushima II: a new case of congenital dysfibrinogenemia with a γ methionine-310 to threonine substitution." 12/01/2009 - "Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution." 05/01/1989 - "A gamma methionine-310 to threonine substitution and consequent N-glycosylation at gamma asparagine-308 identified in a congenital dysfibrinogenemia associated with posttraumatic bleeding, fibrinogen Asahi."
8.	Fibrinopeptide AIBA 01/01/1992 - "Fibrinogen Milano IV, another case of congenital dysfibrinogenemia with an abnormal fibrinopeptide A release (A alpha 16 Arg----His)." 07/01/1987 - "Structural analyses of fibrinogens from patients with congenital dysfibrinogenemia, designated as fibrinogens Kawaguchi and Osaka, have been performed to identify the difference responsible for the lack of fibrinopeptide A release. " 03/01/1987 - "Fibrinogen Barcelona I. Congenital dysfibrinogenemia characterized by defective release of fibrinopeptide A and fibrinogen degradation products."
9.	fibrinmonomerIBA 06/03/1987 - "Two new cases of congenital dysfibrinogenemia are presented in which defective fibrin monomer polymerization and inhibitory activity on normal coagulation were observed. " 06/03/1987 - "Fibrinogen Vicenza and Genova II: two new cases of congenital dysfibrinogenemia with isolated defect of fibrin monomer polymerization and inhibitory activity on normal coagulation." 11/01/1985 - "[Fibrinogen Awaji: a congenital dysfibrinogenemia characterized by abnormal fibrin monomer polymerization]." 04/15/1985 - "Fibrinogen Baltimore IV: congenital dysfibrinogenemia with delayed fibrin monomer polymerization."
10.	Abnormal FibrinogensIBA 03/01/2022 - "Congenital dysfibrinogenemia is characterized by qualitatively abnormal fibrinogens with resultant blood coagulation dysfunction. " 04/30/1976 - "Modified fibrinogen reveals some similarities to abnormal fibrinogens in congenital dysfibrinogenemia with regard to its functional properties."

Therapies and Procedures

1.	Hysterectomy 03/01/2022 - "We reported four asymptomatic congenital dysfibrinogenemia patients with the major surgery (valve replacement, brain surgery, tumorectomy, hysterectomy) in our study. "
2.	Therapeutics 03/01/2008 - "She was later diagnosed with congenital dysfibrinogenemia and treated with chronic Lovenox therapy." 11/18/2022 - "A low-dose therapy of fibrinogen supplement during perioperative period of total knee arthroplasty in an asymptomatic man with congenital dysfibrinogenemia: A case report."
3.	Perioperative Period 11/18/2022 - "A low-dose therapy of fibrinogen supplement during perioperative period of total knee arthroplasty in an asymptomatic man with congenital dysfibrinogenemia: A case report."
4.	Knee Replacement Arthroplasty (Total Knee Replacement) 11/18/2022 - "A low-dose therapy of fibrinogen supplement during perioperative period of total knee arthroplasty in an asymptomatic man with congenital dysfibrinogenemia: A case report."
5.	Blood Transfusion (Blood Transfusions) 10/01/2023 - "[A Family with Congenital Dysfibrinogenemia and Blood Transfusion]." 10/01/2023 - "To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies. "