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Diverticulitis in a young man with hyper-IgE syndrome.
Daniel G Stover1, Alexandra F Freeman, Patty W Wright
1Department of Medicine and Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.
Southern Medical Journal
|November 2, 2010
Summary
Autosomal dominant hyperimmunoglobulin E syndrome (HIES) can lead to gastrointestinal issues. This case highlights diverticulitis as a potential complication in HIES patients, suggesting connective tissue abnormalities may play a role.
Area of Science:
- Immunology
- Gastroenterology
- Genetics
Background:
- Autosomal dominant hyperimmunoglobulin E syndrome (HIES), also known as Job syndrome, is a rare primary immunodeficiency.
- HIES is characterized by elevated IgE, eosinophilia, recurrent infections, dermatitis, and connective tissue/skeletal abnormalities.
Observation:
- A 26-year-old male with known HIES presented with abdominal pain and diarrhea.
- Imaging revealed sigmoid diverticulitis, initially managed conservatively with antibiotics.
- The patient developed a peridiverticular abscess, necessitating percutaneous drainage and later partial colectomy.
Findings:
- This is the first reported case of diverticulitis in a patient with HIES.
- Diverticulitis is uncommon in young individuals, suggesting a potential link to HIES-related connective tissue abnormalities.
- The patient required surgical intervention due to disease progression.
Implications:
- Connective tissue abnormalities in HIES may predispose individuals to colonic diverticula.
- Diverticulitis should be considered in the differential diagnosis of intra-abdominal conditions in HIES patients.
- While sinopulmonary and skin infections are common, gastrointestinal complications like diverticulitis warrant clinical attention.
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