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New observations on factor XI deficiency.

O Salomon1, U Seligsohn

  • 1Amalia Biron Research Institute of Thrombosis and Hemostasis, Chaim Sheba Medical Center, Tel Hashomer, Israel. ophiras@sheba.health.gov.il

Haemophilia : the Official Journal of the World Federation of Hemophilia
|October 14, 2004
PubMed
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Factor XI (FXI) deficiency causes bleeding disorders, especially after trauma. Management involves fresh frozen plasma or FXI concentrates, with recombinant FVIIa used for FXI inhibitors.

Area of Science:

  • Hematology
  • Genetics
  • Vascular Biology

Background:

  • Factor XI (FXI) deficiency is an inherited bleeding disorder.
  • It is associated with trauma involving tissues rich in fibrinolytic activators.
  • Severe deficiency is defined by plasma FXI activity < 15 U dL(-1).

Purpose of the Study:

  • To review the characteristics of Factor XI deficiency.
  • To discuss genetic mutations and population prevalence.
  • To outline current management strategies and complications.

Main Methods:

  • Literature review of Factor XI deficiency.
  • Analysis of genetic mutations and their prevalence.
  • Summary of clinical manifestations and treatment outcomes.

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Main Results:

  • 53 mutations in the FXI gene are known, with four prevalent in specific populations.
  • Inhibitors can develop in severe deficiency (< 1 U dL(-1)), complicating management.
  • Severe FXI deficiency does not protect against myocardial infarction.

Conclusions:

  • Fresh frozen plasma is the primary treatment for surgical bleeding in FXI deficiency.
  • FXI concentrates carry a risk of thrombosis (approx. 10%), especially in cardiovascular disease.
  • Recombinant FVIIa is effective for bleeding in patients with FXI inhibitors.