Plasminogen activator inhibitor type 1 deficiency
Type of disease: Rare conditions
Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.