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Hereditary angioedema with gastrointestinal involvement: endoscopic appearance
T Hara1, A Shiotani, H Matsunaka
1Second Department of Internal Medicine, Wakayama Medical College, Wakayama City, Japan.
Endoscopy
|June 22, 1999
Summary
This case study details hereditary angioedema (HAE) affecting the stomach, observed via endoscopy during and after an attack. It highlights unique gastrointestinal findings in HAE patients.
Area of Science:
- Gastroenterology
- Immunology
- Genetics
Background:
- Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent swelling.
- Gastrointestinal involvement in HAE is uncommon and poorly understood.
- Endoscopic findings during acute HAE attacks have not been previously documented.
Observation:
- A 31-year-old male with a family history of angioedema presented with abdominal pain and extremity swelling.
- Endoscopy during an acute attack revealed gastric mucosal erythema, edema, and submucosal bulging.
- Computed tomography showed transient gastrointestinal wall edema.
Findings:
- Diagnosis of HAE with gastrointestinal involvement was confirmed by endoscopic findings and low C4/C1 inhibitor levels.
- Gastric mucosa exhibited features mimicking submucosal tumors due to massive edema.
- Healing phase showed small nodules and erosions, with complete mucosal normalization within 55 days.
Implications:
- This case expands the understanding of HAE manifestations.
- Provides novel endoscopic insights into gastric involvement during HAE attacks.
- Highlights the importance of considering HAE in patients with unexplained gastrointestinal symptoms and angioedema.