Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Plasminogen activator inhibitor deficiency

Plasminogen activator inhibitor deficiency is an autosomal dominant or recessive disorder caused by mutations of the SERPINE1 gene. This bleeding disorder typically presents as a delayed bleeding after injury. By contrast spontaneous bleeding is rare.

Pathogenesis

After injury a fribrin clot stops bleeding. Plasmin is is the protease to degrade that clot. Activation of plasmin is delayed by an plasmin activation inhibitor. If the inhibitor is deficient the clot is resolved too fast and bleeding continues.

Management

This deficiency is well treated by inhibitors of fibrinolysis such as Aminomethylbenzoic acid and Tranexam.

Systematic

Hereditary bleeding disorders
Afibrinogenemia
Disturbances of vitamin K metabolism
Dysfibrinogenemia
Factor XII deficiency
Factor XIII A subunit deficiency
Factor XIII B subunit deficiency
Plasminogen activator inhibitor deficiency
SERPINE1

References:

1.

Fay WP et. al. (1992) Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation.

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2.

Fay WP et. al. (1997) Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene.

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3.

Zhang ZY et. al. (2005) A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide.

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4.

Mehta R et. al. (2008) Plasminogen activator inhibitor type 1 deficiency.

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5.

Schleef RR et. al. (1989) Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.

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6.

Takahashi Y et. al. (1996) Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency.

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7.

Minowa H et. al. (1999) Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.

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Update: Sept. 26, 2018