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Recurrent Intestinal Angioedema with Normal C1-Inhibitor: A Case Report
Dorde Jevtic1, Adela Taylor2,3, Igor Dumic3,4
1Icahn School of Medicine at Mount Sinai NYCHHC Elmhurst, Queens, NY 11373, USA.
Medicina (Kaunas, Lithuania)
|February 26, 2025
Summary
This study highlights a rare case of chronic recurrent intestinal angioedema in a patient with normal C1-inhibitor function. The condition mimicked other gastrointestinal disorders and showed limited response to standard treatment.
Area of Science:
- Gastroenterology
- Immunology
- Allergy
Background:
- Angioedema is a submucosal edema, often linked to C1-inhibitor deficiency or dysfunction.
- Intestinal angioedema is a rare manifestation, frequently misdiagnosed as acute gastrointestinal conditions.
- This case involves a patient with chronic, recurrent intestinal angioedema despite normal C1-inhibitor function.
Observation:
- A 56-year-old woman presented with severe abdominal pain, nausea, vomiting, and diarrhea.
- She had a 30-year history of similar, hospitalizing episodes.
- Initial tests revealed normal C4 and C1 esterase inhibitor function, with negative infectious workups.
Findings:
- Imaging showed diffuse bowel thickening and mesenteric lymphadenopathy, indicative of inflammation.
- Endoscopic evaluations were unremarkable.
- The patient received icatibant without substantial improvement, with symptoms resolving via supportive care.
Implications:
- Intestinal angioedema is underdiagnosed and can present with overlapping gastrointestinal symptoms.
- Comprehensive diagnostic workups, including complement level assessment, are crucial for initial episodes.
- This case underscores the complexity of classifying angioedema and tailoring treatment, especially in atypical presentations.
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