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Spontaneous (Unexplained) Thrombosis: The Inherited Basis for the Thrombohemorrhagic Balance
Published in E. Nigel Harris, Thomas Exner, Graham R. V. Hughes, Ronald A. Asherson, Phospholipid-Binding Antibodies, 2020
Dysfibrinogenemia—Presently, more than 100 abnormal fibrinogens have been described.75-76 Most of these lead either to no symptoms or to a mild bleeding tendency, but some also lead to thrombophilia. This again testifies to the fact that changes in one single component in the THB may lead to clinical consequences in both directions. Additionally, the thrombophilia occasionally associated with plasminogen abnormalities and dysfibrino-genemia represent a strong argument for the importance of the fibrinolytic system. The reason why some dysfibrinogenemias lead to thrombosis is that they do not respond normally to plasmin digestion, and consequently have delayed clot lysis.
Defects in Coagulation Factors Leading to Recurrent Pregnancy Loss
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
The benefits of substitution therapy should be weighed against the possibility of inducing thrombosis. Catastrophic thrombosis has been reported during fibrinogen replacement therapy in patients with afibrinogenemia and dysfibrinogenemia [24]. Prophylactic heparin or LMWH has been advocated for the peripartum period in these patients.
Hereditary Plasma Protein Disorders
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
Congenital dysfibrinogenemia is a disorder characterized by normal fibrinogen levels (immunologically), but the molecule is abnormal. There have been several types of dysfibrinogenemias described.32 By international agreement, these are named by the city where first discovered. All appear to be inherited by autosomal dominance, and all are characterized by a long or infinite thrombin time, with the exception of fibrinogen Oslow, which demonstrates a short thrombin time, and fibrinogen Oklahoma, which has a normal thrombin time.
Rare inherited coagulation disorders in young children in Oman
Published in Pediatric Hematology and Oncology, 2022
Surekha Tony, Roshan Mevada, Abdulhakim Al Rawas, Yasser Wali, Mohamed Elshinawy
In literature, most of these atypical severe presentations are often described in patients with afibrinogenemia. Patients with hypofibrinogenemia or dysfibrinogenemia are usually asymptomatic or mildly symptomatic.14,30 Plausible explanations of these severe atypical bleeding phenotypes include patient-related factors such as concomitant orbital infection, possibly unrecognized injuries in the two boys and a preexisting ovarian cyst in the adolescent girl. In addition, other genetic factors need to be considered. It has been reported that some variants such as p.Gly284Arg and p.His340Asp are associated with hepatic fibrinogen storage disease (FSD), resulting in a more severe clinical phenotype, despite apparently moderately deficient fibrinogen.31 Furthermore, the occurrence of lytic bone lesion in two siblings strongly points toward an underlying genetic defect. Nonetheless, in a community with such complex consanguinity, other underlying autosomal recessive disorders such as platelet function defects, vascular disorders or concomitant dysfibrinogenemia cannot be completely ruled out.
Congenital fibrinogen disorder caused by digenic mutations of the FGA and FGB genes
Published in Hematology, 2020
Xiong Wang, Ning Tang, Na Shen, Yanjun Lu, Dengju Li
Congenital fibrinogen disorders (CFDs) are caused by monoallelic or biallelic mutations in FGA, FGB, and FGG genes [3]. Quantitative CFDs include afibrinogenemia (complete absence of antigenic fibrinogen with a life-long bleeding tendency) and hypofibrinogenemia (decreased circulating fibrinogen levels), while qualitative CFDs consist of dysfibrinogenemia (normal antigenic but dysfunctional fibrinogen levels) and hypodysfibrinogenemia (decreased dysfunctional fibrinogen levels) [4]. Hypofibrinogenemia and dysfibrinogenemia are autosomal dominant disorders while afibrinogenemia is a recessive one [5]. Genetic mutations identified in all three genes included missense, nonsense, splice-site, small insertion/deletion, or large deletion in Human Gene Mutation Database(HGMD) database.
Fibrinogen alpha amyloidosis: insights from proteomics
Published in Expert Review of Proteomics, 2019
Mutations, both autosomal dominant and recessive, in the fibrinogen chain genes can cause a series of disorders most of which are related to clotting [10,14,15]. Congenital afibrinogenemia is a rare autosomal recessive inherited disorder which usually involves a non-functional mutation in both the maternal and paternal copies of either the FGA, FGB, or FBG genes [16,17]. These individuals experience frequent and sometimes life-threatening episodes of bleeding and/or thrombosis due to a lack of fibrinogen. Congenital hypofibrinogenemia is also a rare inherited disorder, but individuals only have a non-functional mutation in one of the two parental FGA, FGB, or FBG genes [18]. Blood may not clot normally due to a reduced level of fibrinogen and the lower the fibrinogen levels the more symptomatic. Congenital dysfibrinogenemia is an autosomal dominant inherited disorder in which fibrinogen is composed of a dysfunctional protein made by a mutated gene plus a normal fibrinogen made by a normal gene [19]. Fibrinogen levels appear normal by immunological measurements, but when measured by clot formation methods levels are approximately 50%. This disorder has a reduced penetrance and only some individuals show symptoms of abnormal bleeding or thrombosis.