Factor XI Deficiency Clinical Presentation

Updated: Oct 30, 2019
  • Author: Jamie E Siegel, MD; Chief Editor: Srikanth Nagalla, MD, MS, FACP  more...
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Presentation

History

Bleeding in persons with factor XI (FXI) deficiency occurs with dental extractions, trauma, or surgery. The FXI level does not correlate with or act as a predictor of bleeding risk. [16] Within individual patients and their family, highly variable and unpredictable bleeding patterns occur. Bleeding can be immediate or delayed.

Considerations in the history are as follows:

  • Circumcision may be the first manifestation of this bleeding disorder, but a negative history does not exclude FXI deficiency
  • Bleeding with dental extractions is a common manifestation
  • Menorrhagia has been reported in as many as 59% of women with FXI deficiency; in one study of women with menorrhagia, 4% were found to have FXI deficiency. [2]
  • An inconsistent history of bleeding in the same patient may be observed with FXI deficiency.
  • FXI deficiency in an asymptomatic patient may be identified only by a prolonged activated partial thromboplastin time (aPTT) on routine preoperative testing.
  • Family history may reflect an autosomal dominant or recessive pattern of inheritance.
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Physical

Physical manifestations of FXI deficiency are rare. Bruising and petechiae usually are not observed with this coagulation disorder. No chronic joint abnormalities occur. After a surgical procedure, if a patient has remained undiagnosed and untreated, a significant hematoma may occur in the area of surgery.

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Causes

See the list below:

  • FXI deficiency is predominantly an inherited disorder.

  • Reports exist of acquired FXI deficiency associated with systemic lupus erythematosus. However, some reagents used for FXI laboratory testing are particularly sensitive to the lupus anticoagulant and results may be falsely interpreted as an FXI deficiency. Therefore, a diagnosis of FXI deficiency must be made with caution in a patient without a family history and who is not of Jewish heritage.

  • Acquired alloantibodies to FXI may occur in patients who are congenitally deficient and who have been exposed to FXI via blood products.

  • The FXI level may decrease, as do the other factors synthesized in the liver, when interference with liver synthetic function occurs.

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