Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency
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Factor XI deficiency (FXID) is a rare bleeding disorder caused by mutations in the F11 gene. Spontaneous bleeding in patients with factor XI deficiency is rare, but major bleeding may occur after surgery or trauma. The basic method for hemostatic treatment is replacement of the missing factor using FXI concentrate or fresh frozen plasma (FFP). We report the case of a 72-year-old male with severe FXID who underwent a laminoplasty under sufficient, but minimal, FFP transfusion. Through detailed monitoring of activated partial thromboplastin time (APTT) and FXI activity at the perioperative period, we succeeded in hemostatic management of major surgery without significant blood loss and fluid overload. From the course of this case, we found that measuring FXI activity is superior to measuring APTT. Furthermore, we identified a novel homozygous mutation in F11 [NM_000128.3:c.1041C > A:p.(Tyr347*)] by whole exome sequencing.
KeywordsFactor XI deficiency Hemostatic management Fresh frozen plasma (FFP) Major surgery Whole exome sequencing Causative F11 mutation
N. M. and H. H. conceived the study. N. M., Y. O. and Y. U. designed the study. Y. O., K. Y., N. A. and H. H. evaluated patients and provided samples. T. M. and H. I. conducted a surgery. M. I. and M. M. performed a clinical test. Y. U. performed WES analyses. Y. O., H. H., Y. U. and N. M. wrote the manuscript. All authors reviewed the manuscript.
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Conflict of interest
The authors stated that they had no interests which might be perceived as posing a conflict or bias.
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