Complete plasminogen activator inhibitor 1 deficiency

Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a disorder that causes abnormal bleeding. In people with this disorder, bleeding associated with injury can be excessive and last longer than usual.

Individuals with complete PAI-1 deficiency may experience prolonged nosebleeds, excessive bleeding after medical or dental procedures, easy bruising, and significant bleeding into the joints or soft tissues after even a minor injury. Internal bleeding after an injury, especially bleeding around the brain (intracranial hemorrhage), can be life-threatening. Affected females may have excessive bleeding associated with menstruation (menorrhagia) and abnormal bleeding in pregnancy and childbirth.

In addition to bleeding problems, some people with complete PAI-1 deficiency develop scar tissue in the heart (cardiac fibrosis), which can lead to heart failure.

Other names

Complete PAI-1 deficiency; Congenital plasminogen activator inhibitor type 1 deficiency; Homozygous PAI-1 deficiency; Hyperfibrinolysis due to PAI1 deficiency; PAI-1 deficiency; PAI-1D; PAI1 deficiency; Plasminogen activator inhibitor type 1 deficiency; Plasminogen inhibitor-1 deficiency; Quantitative PAI-1 deficiency

Inheritance pattern

Autosomal recessive

Related genes

SERPINE1

Source: MedlinePlus Genetics, U.S. National Library of Medicine.