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Hereditary Plasma Protein Disorders
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
Congenital afibrinogenemia is extremely rare, with only 60 cases having been reported. This disorder is inherited as an autosomal recessive trait. It is thought that afibrinogenemia represents the homozygous state and hypofibrinogenemia represents the heterozygote.31 Afibrinogenemic patients may suffer severe hemophilia-like bleeding, including intra-articular bleeding with crippling hemarthroses. In addition, umbilical stump bleeding at childbirth is characteristic. These patients also suffer cutaneous bruising and have life-threatening bleeding following trauma or surgery. Hypofibri-nogenemic patients may suffer only mild bleeding, usually never spontaneous, but may bleed significantly with surgery or trauma. The diagnostic laboratory findings of afibrinogenemia are an infinite thrombin time, reptilase time, prothrombin time, and partial thromboplastin time.
The Role of Macrophage Procoagulants in Infection
Published in Gary A. Levy, Edward H. Cole, Procoagulant Activity in Health and Disease, 2019
Guy F. Brisseau, Paul Y. C. Cheung, Ori D. Rotstein
The delayed-type hypersensitivity (DTH) response is not an infection, but rather an inflammatory response to an antigen challenge. This response is characterized by the early appearance of erythema followed by the development of induration. It is the latter which is used to quantitate the magnitude of the response. Several lines of evidence suggest that local fibrin deposition and associated imbibement of water34 are responsible for the development of the induration. These include the following: In normal subjects, upon subcutaneous antigen challenge there is intense immunoreactive fibrinogen staining in the indurated area.35Systemic anticoagulants (e.g., heparin or warfarin) or local anticoagulants (e.g., high-affinity heparin) are able to significantly decrease the induration.36–38Individuals with congenital afibrinogenemia display no induration but have a normal erythema response.35
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.
Thrombotic complications in adult patients with severe single coagulation factor or platelet defects – an overview
Published in Expert Review of Hematology, 2019
Hanne Skaadel, Øystein Bruserud
Girolami et al. [1] identified 13 cases of arterial thromboses and 12 cases of venous thromboses in patients with congenital afibrinogenemia, and for most of these patients, the thrombotic event occurred after infusion of fibrinogen concentrates. They did not observe any gender difference.