Other Congenital Coagulopathies

J. Petkova, K. D. Friedman

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

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.

Original languageEnglish (US)
Title of host publicationHematopoietic System Toxicology
PublisherElsevier
Pages337-347
Number of pages11
Volume12-15
ISBN (Electronic)9780081006122
ISBN (Print)9780081006016
DOIs
StatePublished - 2018

Keywords

  • Alpha 2 antiproteinase
  • Factor II
  • Factor V
  • Factor VII
  • Factor X
  • Factor XI
  • Factor XIII
  • Fibrinogen
  • Plasminogen activator inhibitor

ASJC Scopus subject areas

  • Medicine(all)

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