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.
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.
This deficiency is well treated by inhibitors of fibrinolysis such as Aminomethylbenzoic acid and Tranexam.
|Hereditary bleeding disorders|
|Disturbances of vitamin K metabolism|
|Factor XII deficiency|
|Factor XIII A subunit deficiency|
|Factor XIII B subunit deficiency|
|Plasminogen activator inhibitor deficiency|
Fay WP et al. (1992) Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation.[^]
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.[^]
Zhang ZY et al. (2005) A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide.[^]
Mehta R et al. (2008) Plasminogen activator inhibitor type 1 deficiency.[^]
Schleef RR et al. (1989) Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.[^]
Takahashi Y et al. (1996) Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency.[^]
Minowa H et al. (1999) Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency.[^]
OMIM.ORG articleOmim 613329 [^]