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Genetic and Rare Diseases Information Center (GARD)

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Plasminogen activator inhibitor type 1 deficiency


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Overview


Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome.[1] While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often severe. Prolonged bleeding after surgery is also common.[1][2]  PAI-1 deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene.[2]  Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes.[1][2]
Last updated: 1/19/2012

References

  1. Anglés-Cano E. Congenital plasminogen activator inhibitor type 1 deficiency. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=465. Accessed 11/7/2011.
  2. Plasminogen Activator Inhibitor-1 Deficiency. Online Mendelian Inheritance in Man (OMIM). 2010; http://omim.org/entry/613329. Accessed 11/7/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Plasminogen activator inhibitor type 1 deficiency. Click on the link to view a sample search on this topic.