Congenital dysfibrinogenemia.

Fibrinogen abnormalities can be classified as congenital or acquired. Each class manifests quantitative or qualitative alterations; the latter are known as dysfibrinogenemias. In dysfibrinogenemias, structural defects cause alterations in the conversion of fibrinogen to fibrin. Approximately 300 abnormal fibrinogens have been reported, and about 83 structural defects have been identified. The most common structural defect involve the fibrinopeptides and their cleavage sites, and the second most common involves the gamma-chain polymerization region. Approximately half of the mutants are clinically silent, whereas hemorrhage and thrombosis occur in almost equal numbers of cases. Study of the abnormal fibrinogens has provided insight into fibrinogen structure and fibrin formation and dissolution. Some of the structural abnormalities exhibit defective assembly and activation of components of the fibrinolytic system on the abnormal fibrin, resulting in impaired dissolution of fibrin, clinically associated with thrombosis.

Abstract sourced from PubMed (NCBI) for the cited record. See the original publication for the authoritative version.

Fibrinogen abnormalities are classified as congenital or acquired with quantitative or qualitative alterations. In dysfibrinogenemias structural defects cause alterations in conversion of fibrinogen to fibrin; study of abnormal fibrinogens has provided insight into fibrinogen structure and fibrin formation.

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