Abstract |
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.
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Authors | Yoshiyuki Ogawa, Kunio Yanagisawa, Yuri Uchiyama, Naoki Akashi, Tokue Mieda, Haku Iizuka, Madoka Inoue, Reiko Shizuka, Masami Murakami, Naomichi Matsumoto, Hiroshi Handa |
Journal | International journal of hematology
(Int J Hematol)
Vol. 108
Issue 4
Pg. 443-446
(Oct 2018)
ISSN: 1865-3774 [Electronic] Japan |
PMID | 29713955
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Aged
- Factor XI
(administration & dosage)
- Factor XI Deficiency
(drug therapy, genetics, pathology)
- Hemostatic Techniques
- Homozygote
- Humans
- Male
- Mutation
- Plasma
- Severity of Illness Index
- Spinal Cord Diseases
(drug therapy, genetics, pathology)
- Spondylosis
(drug therapy, genetics, pathology)
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