Plasminogen activator inhibitor type 1 deficiency

Rakesh Mehta, A. D. Shapiro

Research output: Contribution to journalArticle

79 Citations (Scopus)

Abstract

Plasminogen activator inhibitor type 1 (PAI-1) is an important component of the coagulation system that down-regulates fibrinolysis in the circulation. Reduced PAI-1 levels may result in increased fibrinolysis and an associated bleeding diathesis. Clear documentation of PAI-1 deficiency as a cause of a bleeding disorder has been rare. PAI-1 was initially identified in the 1980s, and the first reported case of PAI-1 deficiency appeared in 1989. Several reports followed, although only two identified an underlying genetic defect. These reports of PAI-1 deficiency suggest that affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical procedures. Affected individuals rarely exhibit spontaneous bleeding events commonly seen in other procoagulant deficiencies. The majority of bleeding events are controlled with antifibrinolytic agents, such as tranexamic acid and η-aminocaproic acid. A major issue that contributes to difficulty in establishing an accurate diagnosis of PAI-1 deficiency is that the activity assay is accurate in detection of elevated levels but not at the lowest range. Reported normal ranges begin at zero, thereby making a deficiency state because of a dysproteinaemia difficult to distinguish from that of a normal unaffected individual. Although the antigen assay may be helpful in some circumstances, it assists only with complete quantitative disorders. Because of lack of standardized commercially available PAI-1 activity assay sensitive in the lowest range, the true prevalence of this rare condition has not been established.

Original languageEnglish
Pages (from-to)1255-1260
Number of pages6
JournalHaemophilia
Volume14
Issue number6
DOIs
StatePublished - 2008

Fingerprint

Plasminogen Activator Inhibitor 1
Hemorrhage
Fibrinolysis
Tranexamic Acid
Aminocaproic Acid
Menorrhagia
Antifibrinolytic Agents
Epistaxis
Disease Susceptibility
Documentation
Plasminogen Activator Inhibitor-1 Deficiency
Reference Values
Down-Regulation
Antigens
Wounds and Injuries

Keywords

  • Antifibrinolytic agents
  • Bleeding
  • Dysproteinaemia
  • Fibrinolysis
  • Menorrhagia
  • Plasminogen activator inhibitor type 1

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)

Cite this

Plasminogen activator inhibitor type 1 deficiency. / Mehta, Rakesh; Shapiro, A. D.

In: Haemophilia, Vol. 14, No. 6, 2008, p. 1255-1260.

Research output: Contribution to journalArticle

Mehta, Rakesh ; Shapiro, A. D. / Plasminogen activator inhibitor type 1 deficiency. In: Haemophilia. 2008 ; Vol. 14, No. 6. pp. 1255-1260.
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