Cardiovascular

Recurrent bowel angioedema in a patient with C1 esterase inhibitor deficiency.

TL;DR

This case underscores the importance of considering hereditary and acquired C1-INH deficiency in the differential diagnosis of recurrent abdominal pain and bowel oedema despite late onset and lack of concomitant facial or peripheral angioedema.

Key Findings

A 56-year-old male patient presented with recurrent abdominal pain, nausea, and vomiting secondary to bowel angioedema caused by C1 esterase inhibitor deficiency.

  • The patient experienced recurrent bowel obstruction secondary to angioedema
  • The condition resulted in multiple hospitalisations and surgical interventions
  • The patient was male, aged 56 years old
  • The case involved C1 esterase inhibitor (C1-INH) deficiency as the underlying cause

Bowel angioedema due to C1-INH deficiency can present without concomitant facial or peripheral angioedema.

  • The patient lacked concomitant facial or peripheral angioedema, which are more commonly associated features of C1-INH deficiency
  • The case demonstrates that isolated bowel involvement is a recognized presentation of C1-INH deficiency
  • Late onset of presentation was noted as an atypical feature in this case

C1-INH deficiency, including both hereditary and acquired forms, should be considered in the differential diagnosis of recurrent abdominal pain and bowel oedema.

  • Both hereditary and acquired forms of C1-INH deficiency were reviewed in this case report
  • The authors reviewed clinical presentation, laboratory evaluation, and management of C1-INH deficiency
  • Recurrent bowel obstruction secondary to angioedema is described as uncommon
  • The case highlights that late onset and atypical presentation should not exclude C1-INH deficiency from consideration

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Citation

Matar R, Volcheck G. (2026). Recurrent bowel angioedema in a patient with C1 esterase inhibitor deficiency.. BMJ case reports. https://doi.org/10.1136/bcr-2025-268717