Factor XI Deficiency Clinical Presentation

Updated: Jun 15, 2022
  • 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 Examination

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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