Hereditary angioedema-presenting as recurrent abdominal pain

Area of Science:

• Medical Case Reports
• Rare Diseases
• Gastroenterology

Background:

• Recurrent acute abdomen can present with diverse etiologies.
• Diagnostic challenges arise in cases with atypical presentations.
• Hereditary angioedema (HAE) is a rare genetic disorder often presenting with swelling, but can manifest as abdominal pain.

Purpose of the Study:

• To report a rare case of HAE presenting as recurrent acute abdomen.
• To highlight the importance of comprehensive literature review and diagnostic investigation in complex cases.
• To emphasize HAE as a differential diagnosis for unexplained recurrent abdominal pain.

Main Methods:

• Case presentation of a 22-year-old male with recurrent acute abdominal symptoms.
• Review of extensive medical records and investigations.
• Literature search for rare causes of abdominal pain.
• Diagnostic workup including C1-INH, C3, and C4 levels.

Main Results:

• The patient experienced recurrent episodes of severe upper abdominal pain, vomiting, distention, and ascites.
• Previous investigations and an appendectomy failed to identify a cause.
• Diagnosis of Hereditary Angioedema was confirmed based on clinical presentation and low C1-INH, C3, and C4 levels.

Conclusions:

• Hereditary angioedema can present as recurrent acute abdomen, posing a diagnostic challenge.
• Thorough investigation and consideration of rare diseases are crucial for accurate diagnosis.
• Internet-based literature searches are valuable tools for diagnosing complex and rare conditions.