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Immune-mediated protein-losing enteropathy with Down syndrome
Sohachi Nanjo1, Jun Nishikawa, Shigeharu Miwa
1Department of Gastroenterology and Hematology, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Japan.
This study reports the first case of immune-mediated protein-losing enteropathy (PLE) in a patient with Down syndrome. Corticosteroid treatment successfully induced remission of this rare gastrointestinal disorder.
Area of Science:
- Gastroenterology
- Immunology
- Genetics
Background:
- Down syndrome is a genetic disorder associated with various health complications.
- Protein-losing enteropathy (PLE) is a condition characterized by excessive protein loss through the gastrointestinal tract.
Observation:
- A 28-year-old woman with Down syndrome presented with severe hypoalbuminemia, edema, and diarrhea.
- Urine analysis was negative for protein, suggesting a non-renal cause for hypoalbuminemia.
Findings:
- The patient was diagnosed with immune-mediated protein-losing enteropathy (PLE) based on clinical symptoms, albumin scintigraphy, and duodenal biopsy results showing IgM and C3 deposition.
- No evidence of collagen diseases was observed.
Implications:
- This case highlights immune-mediated PLE as a potential, albeit rare, complication in individuals with Down syndrome.
- Corticosteroid therapy demonstrated efficacy in achieving remission for this condition.
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