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Celiac sprue in Down's syndrome: considerations on a pathogenetic link
The American Journal of Gastroenterology
|May 1, 1983
Summary
Celiac disease and Down syndrome can co-occur, presenting as malabsorption. Gluten withdrawal improved symptoms, confirming the link in these cases.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Down syndrome is associated with an increased risk of gastrointestinal disorders.
- Celiac disease is an autoimmune disorder triggered by gluten ingestion.
Observation:
- Two patients with Down syndrome presented with malabsorption syndrome symptoms.
- Diagnosis was confirmed via peroral jejunal mucosal biopsy.
Findings:
- Both patients showed clinical improvement after adopting a gluten-free diet.
- One patient experienced symptom recurrence and jejunal mucosal atrophy upon gluten reintroduction.
Implications:
- Highlights the importance of screening for celiac disease in individuals with Down syndrome.
- Suggests a potential genetic link contributing to the comorbidity of these conditions.
- Informs clinical management strategies for patients with coexisting Down syndrome and celiac disease.