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A Case Report on an Extremely Rare Disease: Factor XI Deficiency
Shobha Mandal1, Sumit Gami2,3, Surendra Shah4
1Internal Medicine, Guthrie Robert Packer Hospital, Sayre, USA.
Cureus
|November 5, 2020
Summary
Factor XI deficiency is a rare bleeding disorder caused by F11 gene mutations. Patients may be asymptomatic until surgery, experiencing severe bleeding requiring transfusions.
Area of Science:
- Hematology
- Genetics
Background:
- Factor XI deficiency is a rare inherited bleeding disorder.
- Prevalence is approximately 1 in 1 million, higher in Ashkenazi Jews.
- Caused by mutations in the factor XI gene (F11) on chromosome 4.
Observation:
- Patients can be asymptomatic until surgical or obstetric procedures.
- Common bleeding sites include the oral cavity, pharynx, and genitourinary tract.
- Our patient remained asymptomatic with no spontaneous bleeding or bruising.
Findings:
- The patient experienced severe bleeding during and after surgeries.
- Multiple fresh frozen plasma transfusions were required.
- This highlights the potential for severe, procedure-related hemorrhage in Factor XI deficiency.
Implications:
- Understanding Factor XI deficiency is crucial for surgical risk assessment.
- Proactive management strategies may be needed for affected individuals.
- Further research into F11 gene mutations and bleeding phenotypes is warranted.
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