DISEASE: Plasminogen activator inhibitor type 1 deficiency
Entry
H01106 Disease
Name
Plasminogen activator inhibitor type 1 deficiency
Description
Plasminogen activator inhibitor type 1 (PAI-1) deficiency is a disorder resulting in increased fibrinolysis and an associated bleeding diathesis. PAI-1 is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely seen in contrast to other procoagulant deficiencies. Generally most of the PAI-1-related diseases are due to elevated antigenic concentrations and their inhibitory activity. However, absence of cellular PAI-1 activity also causes several diseases. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
Fibrinolytic defects
3B50 Inherited fibrinolytic defects
H01106 Plasminogen activator inhibitor type 1 deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01106 Plasminogen activator inhibitor type 1 deficiency
