Plasminogen activator inhibitor type 1 deficiency
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 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. PAI-1 deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene. Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes.Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome.
Last updated: 1/19/2012
- 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.
- 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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- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.