Plasminogen activator inhibitor type 1 deficiency
Other Names for this Disease
- Congenital PAI-1 deficiency
- Congenital plasminogen activator inhibitor type 1 deficiency
 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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- 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.
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