Other Congenital Coagulopathies
Comprehensive Toxicology, Vol: 12, Page: 337-347
2018
- 1Citations
- 9Captures
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Book Chapter Description
Congenital coagulopathies are most often attributed to inherited deficiency of defective function of the protein components of the coagulation mechanism. Most common among these are two sex-linked disorders, hemophilia A (congenital deficiency of factor VIII) and hemophilia B (congenital deficiency of factor IX). Other congenital bleeding disorders are much less prevalent. This article discusses rare congenital coagulopathies, which have a population prevalence of less than 1 in 200 000. These inherited defects of coagulation factors, control proteins, or the substrate fibrinogen are inherited as autosomal recessive traits. The very small number of patients with these conditions presents a challenge in recognition, diagnosis, evaluation of bleeding risk, and treatment. This article will serially review deficiency of fibrinogen, coagulation factors (prothrombin, factor V, factor VII, factor X, factor XI, and factor XIII), as well as two fibrinolytic control proteins (plasminogen activator inhibitor I and alpha 2 proteinase inhibitor). Material presented includes elaborating on each protein’s function, genetics of inherited defects, clinical presentation of deficiency state, diagnosis, and clinical management.
Bibliographic Details
http://www.sciencedirect.com/science/article/pii/B9780081006016000673; http://dx.doi.org/10.1016/b978-0-08-100601-6.00067-3; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85186834340&origin=inward; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85043309843&origin=inward; https://linkinghub.elsevier.com/retrieve/pii/B9780081006016000673; http://linkinghub.elsevier.com/retrieve/pii/B9780081006016000673; http://api.elsevier.com/content/article/PII:B9780081006016000673?httpAccept=text/xml; http://api.elsevier.com/content/article/PII:B9780081006016000673?httpAccept=text/plain; https://dx.doi.org/10.1016/b978-0-08-100601-6.00067-3
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