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Inflammation
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
Coagulation disorders include abnormalities of fibrinogen production and metabolism. There are two types: afibrinogenemia or impaired conversion of fibrinogen to fibrin.376 Subjects with congenital absence of fibrinogen have a severe bleeding tendency. These patients are not able to synthesize any fibrinogen-like material. There are a number of individuals whose plasma contains fibrinogen-like substance that coagulate upon the effects of thrombin, but it is abnormally slow. These individuals have a mild bleeding tendency, and some have impaired wound healing or cerebrovascular disease.50 Investigations on these fibrinogens revealed an abnormality in the amino acid sequence of the protein stucture, which is probably responsible for the delayed response to thrombin. In some patients with afibrinogenemia, ADP-induced platelet aggregation is decreased.326
Acquired Circulating Anticoagulants Other than Lupus Anticoagulants
Published in E. Nigel Harris, Thomas Exner, Graham R. V. Hughes, Ronald A. Asherson, Phospholipid-Binding Antibodies, 2020
As with other patients having deficiencies of individual clotting factors, patients with hereditary afibrinogenemia have been reported to develop inhibitors or antibodies to normal fibrinogen following transfusion.114 Many of these “antifibrin(ogen) autoantibodies” have been described as IgM in nature and it is believed that the high molecular weight proteins interfere with the polymerization of the fibrin monomers simply through a physical interaction. However, there have been some cases of specific immunoglobulins, IgGs directed against components of the fibrinogen-converting mechanism. Galanakis and colleagues found two such patients with monoclonal antibodies that reacted with different parts of the fibrinogen molecule.115 Most of these cases have been relatively asymptomatic with no bleeding complications, even following surgery.
Defects in Coagulation Factors Leading to Recurrent Pregnancy Loss
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
The three overlapping hereditary abnormalities of fibrinogen—afibrinogenemia, dysfibrinogenemia, and hypofibrinogenemia—have been associated with recurrent pregnancy loss. Afibrinogenemia—a defect in hepatic fibrinogen secretion or release—is inherited as an autosomal recessive trait and is associated with bleeding diathesis, impaired wound repair, and recurrent pregnancy loss. A related form of this disorder is hypofibrinogenemia. Hereditary dysfibrinogenemias are characterized by the biosynthesis of structurally and functionally abnormal fibrinogen.
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
Fibrinogen disorders were identified in 26 patients [hypofibrinogenemia (18/26), afibrinogenemia (6/26), and dysfibrinogemia (2/26)], accounting for 32.9% of all patients with rare coagulation disorders. Initial presentations included spontaneous mucocutaneous, musculoskeletal, umbilical stump, postcircumcision, intracranial, and posttraumatic musculoskeletal bleeds (Table 1). Atypical severe clinical presentations of hypofibrinogenemia are displayed in Table 2. Two out of six patients with afibrinogenemia (33%) presented with ICH. Others presented with spontaneous mucocutaneous/musculoskeletal bleeds. In total, 12/26 patients (46%) with severe bleeding phenotype (6 patients with afibrinogenemia and 6 patients with hypofibrinogenemia) received regular prophylactic replacement therapy. The main indications for prophylaxis included recurrent bone cysts, splenic rupture, hemorrhagic ovarian cyst, ICH, and massive orbital hematoma. Two adolescent girls required hormonal therapy as an adjuvant treatment for uncontrollable menorrhagia.
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.
Hereditary afibrinogenemia and pulmonary-renal hydralazine-induced vasculitis
Published in Baylor University Medical Center Proceedings, 2019
Ginger Tsai-Nguyen, Ariel M. Modrykamien, Arthur Bredeweg
The presented patient had a diagnosis of afibrinogenemia, which may be mistakenly considered the cause of hemoptysis and hematuria. Congenital fibrinogen disorders are of two types. Type I disorders (afibrinogenemia and hypofibrinogenemia) affect the quantity of circulating fibrinogen, and type II disorders (dysfibrinogenemia) affect the quality of circulating fibrinogen.7 Hereditary afibrinogenemia is a very rare bleeding disorder, with a prevalence of 1:1,000,000 live births, and has autosomal recessive genetic transmission.8 Bleeding in the adult population is not unusual9 and most commonly presents as muscle hematoma, easy bruising, menorrhagia, hemarthrosis, or oozing in the oral cavity. Though afibrinogenemia is associated with a bleeding tendency, hemoptysis is a very rare manifestation and should trigger investigation of other lung bleeding causes.9