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A Sardinian Family with Factor XI Deficiency.

Doris Barcellona1, Giovanni Favuzzi2, Maria Luigia Vannini1

  • 1Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.

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|August 1, 2019
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Summary

Factor XI (FXI) deficiency, a bleeding disorder, was studied in a family. Genetic analysis revealed a specific mutation, explaining the severe FXI deficiency and bleeding tendency in affected members.

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Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Factor XI (FXI) deficiency is an inherited bleeding disorder.
  • It presents with a tendency for bleeding after trauma or surgery.
  • Acquired inhibitors can develop secondary to replacement therapy.

Observation:

  • A family presented with incidentally discovered prolonged activated partial thromboplastin time (aPTT).
  • Three family members exhibited severe FXI deficiency with low antigen levels.
  • Genetic analysis identified homozygous p.Glu117Stop mutation in affected individuals.

Findings:

  • Patients showed severe FXI deficiency (0.7-1.8%) and low FXI antigen levels.
  • A FXI inhibitor was quantified at 6.4 Bethesda units in one patient.
  • Homozygosity for the p.Glu117Stop mutation was confirmed in affected individuals, while others were heterozygous.
  • Clot waveform analysis indicated reduced clot formation velocity and acceleration compared to normal subjects.

Implications:

  • Mixing tests are crucial for diagnosing prolonged aPTT, differentiating FXI deficiency from inhibitors.
  • Molecular analysis in severe FXI deficiency is essential for prognostic assessment.
  • Clot waveform analysis aids in understanding the pathophysiology of FXI-related bleeding disorders.