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Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a condition characterized by a tendency to bleed abnormally. Individuals with this deficiency experience prolonged and excessive bleeding following injuries.
Symptoms of complete PAI-1 deficiency can include extended nosebleeds, heavy bleeding following medical or dental treatments, easy bruising, and substantial bleeding into joints or soft tissues, even from minor traumas. Internal bleeding, particularly intracranial hemorrhage (bleeding in the brain), is a serious and potentially fatal complication. Women with this condition may also suffer from heavy menstrual bleeding (menorrhagia) and abnormal bleeding during pregnancy and delivery.
Beyond bleeding issues, some individuals with complete PAI-1 deficiency may develop cardiac fibrosis, or scarring of the heart tissue, which can ultimately result in heart failure.
The inheritance pattern of this condition is autosomal recessive. This means that an individual must inherit a mutated copy of the responsible gene from both parents to develop the deficiency. The parents, each carrying only one copy of the mutated gene, are typically asymptomatic.
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