Recurrent Acute Abdomen as the Main Manifestation of Hereditary Angioedema

Intern Med. 2019 Jan 15;58(2):213-216. doi: 10.2169/internalmedicine.1559-18. Epub 2018 Aug 24.

Abstract

A diagnosis of hereditary angioedema is usually made with recurrent episodes of swelling of the subcutaneous tissue with a family history. We herein report a case in which recurrent acute abdomen was the main manifestation of hereditary angioedema. A 45-year-old womon presented with a 10-year history of recurrent severe abdominal pain. Abdominal computed tomography revealed remarkable submucosal edema of the ileum. A blood examination revealed grossly reduced complement C4 and CH50 with deficiency of C1-inhibitor. Genetic testing revealed a heterozygous nonsense mutation of the SERPING1 gene, and a diagnosis of hereditary angioedema was made. Hereditary angioedema should be listed as a differential diagnosis of recurrent acute abdomen.

Keywords: C1-inhibitor; acute abdomen; hereditary angioedema; hypocomplementemia; submucosal edema.

Publication types

  • Case Reports

MeSH terms

  • Abdomen, Acute / diagnostic imaging
  • Abdomen, Acute / etiology*
  • Angioedemas, Hereditary / complications*
  • Angioedemas, Hereditary / diagnosis*
  • Codon, Nonsense
  • Complement C1 Inactivator Proteins / genetics
  • Complement C1 Inhibitor Protein / genetics
  • Complement C4 / analysis
  • Diagnosis, Differential
  • Female
  • Genetic Testing
  • Humans
  • Ileal Diseases / diagnostic imaging
  • Ileal Diseases / etiology
  • Middle Aged
  • Radiography, Abdominal / methods
  • Recurrence
  • Tomography, X-Ray Computed

Substances

  • Codon, Nonsense
  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein
  • Complement C4
  • SERPING1 protein, human