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Hereditary angio-edema involving the gastrointestinal tract: CT findings
N Sadeghi1, D Van Daele, B Hainaux
1Department of Radiology, CHU Saint Pierre, Université Libre de Bruxelles, Brussels, Belgium.
Insights
Hereditary angio-edema can present as prolonged abdominal pain. Abdominal CT scans can suggest this rare diagnosis, confirmed by C1 esterase inhibitor levels.
Area of Science:
- Medicine
- Genetics
- Immunology
Background:
- Hereditary angio-edema (HAE) is a rare genetic disorder.
- It is characterized by recurrent episodes of swelling.
- Abdominal pain is an uncommon presentation of HAE.
Observation:
- A young man experienced chronic, recurrent abdominal pain.
- Abdominal CT imaging during an attack revealed suggestive findings.
- Serum C1 esterase inhibitor (C1-INH) levels were measured.
Findings:
- This case represents the first reported instance of hereditary angio-edema presenting solely with abdominal pain.
- Abdominal CT findings were crucial in suspecting the diagnosis.
- Confirmed diagnosis through low serum C1-INH concentration.
Implications:
- Highlights the importance of considering HAE in patients with unexplained recurrent abdominal pain.
- Suggests abdominal CT as a potential diagnostic tool for HAE.
- Emphasizes the role of C1-INH measurement in diagnosing hereditary angio-edema.
Abstract:
We report a case of hereditary angio-edema in a young man presenting with recurrent abdominal pain for many years. The diagnosis was suspected on the basis of abdominal CT performed during an abdominal attack and was then confirmed by the measurement of serum concentration of C1 esterase inhibitor (C1-INH). To our knowledge, this is the first case reported of the hereditary form of angio-edema with isolated abdominal pain and in which the diagnosis was suggested by abdominal CT findings.