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Pediatric hereditary angioedema presenting as recurrent episodic abdominal pain and vomiting: Challenges in diagnosis
Julio Nestor Busaniche1, Jhoanna Valery Adauto Luizaga2, Maria Soledad Arcucci3
1Pediatrics Department Hospital Italiano de Buenos Aires Buenos Aires Argentina.
Insights
Recurrent abdominal pain in children can be challenging to diagnose. This case highlights hereditary angioedema as a rare but critical cause, often missed in standard evaluations.
Area of Science:
- Pediatric Gastroenterology
- Rare Diseases
- Immunology
Background:
- Recurrent episodic abdominal pain and vomiting in children are common but often present diagnostic challenges.
- Standard diagnostic algorithms may not identify rare systemic conditions causing these symptoms.
Purpose of the Study:
- To present a case study of a pediatric patient with recurrent unexplained abdominal symptoms.
- To highlight hereditary angioedema as a critical, often overlooked, diagnosis in pediatric abdominal emergencies.
Main Methods:
- Case report detailing a diagnostic odyssey.
- Review of clinical presentation, diagnostic workup, and final diagnosis.
Main Results:
- A pediatric patient experienced recurrent abdominal pain and vomiting from age 4 to 8.
- The patient was ultimately diagnosed with hereditary angioedema, a rare genetic disorder.
Conclusions:
- Hereditary angioedema should be considered in the differential diagnosis of unexplained recurrent episodic abdominal symptoms in children.
- Current clinical pathways may need expansion to include rare systemic conditions for accurate pediatric diagnosis.
Abstract:
Recurrent episodic abdominal pain and vomiting, with symptom-free intervals between attacks, represent common and often challenging presentations in children, typically leading to extensive workups without a clear etiology, as standard diagnostic algorithms fail to include rare systemic conditions. We present the challenging diagnostic odyssey of a pediatric patient (symptom onset at age 4 years; diagnosis at age 8), culminating in an unexpected diagnosis of hereditary angioedema, a critical etiology often omitted from differentials. This case underscores a key gap in current clinical pathways and serves to expand the diagnostic consideration for specialists managing unexplained recurrent episodic abdominal symptoms.
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