Congenital plasminogen activator inhibitor type 1 deficiency
- Synonyms
- HYPERFIBRINOLYSIS DUE TO PAI1 DEFICIENCY; Plasminogen activator inhibitor type 1 deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Untreated complete plasminogen activator inhibitor 1 (PAI-1) deficiency is characterized by mild-to-moderate bleeding, although in some instances bleeding can be life-threatening. Most commonly, delayed bleeding is associated with injury, trauma, or surgery; spontaneous bleeding does not occur. While males and females with complete PAI-1 deficiency are affected equally, females may present more frequently with clinical manifestations or earlier in life than males due to menorrhagia and postpartum hemorrhage. Fewer than ten families with complete PAI-1 deficiency have been reported to date. The incidence of complete PAI-1 deficiency is higher than expected in the genetic isolate of the Old Order Amish population of eastern and southern Indiana due to a pathogenic founder variant. In one family from this Old Order Amish population, seven individuals were diagnosed to have cardiac fibrosis of varying degrees.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Meadow Heiman
- Sweta Gupta
- Magdalena Lewandowska
- view full author information
Available tests
32 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormal bleeding
Abnormal bleeding
- MedGen UID: 264316
- Concept ID: C1458140
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Menorrhagia
Menorrhagia
- MedGen UID: 44358
- Concept ID: C0025323
- Finding: Pathologic Function
Abnormality of blood and blood-forming tissues
- Abnormal bleeding
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