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Fluorescence-mediated Tomography for the Detection and Quantification of Macrophage-related Murine Intestinal Inflammation
Published on: December 15, 2017
Colonic involvement in Fabry's disease
C I Jack1, A I Morris, D G Nasmyth
1Royal Liverpool Hospital, UK.
Postgraduate Medical Journal
|June 1, 1991
Summary
This study presents a rare case of Fabry
Area of Science:
- Gastroenterology and Genetic Medicine
Background:
- Fabry disease is a rare genetic lysosomal storage disorder.
- It is caused by mutations in the GLA gene, leading to alpha-galactosidase A deficiency.
- Systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids occurs.
Observation:
- A 54-year-old male patient with known Fabry disease presented with symptoms of colonic stricture.
- The patient had extensive jejunal and colonic diverticulosis.
- Diagnostic investigations revealed a colonic stricture.
Findings:
- Surgical resection of the affected colon segment was performed.
- Histological examination confirmed ceramide trihexose deposition in the myenteric nerve plexus.
- This finding indicates direct colonic involvement in Fabry disease.
Implications:
- This case highlights a previously unreported manifestation of Fabry disease.
- It suggests that gastrointestinal complications, including colonic stricture due to Gb3 deposition, should be considered in patients with Fabry disease.
- Further research is warranted to understand the pathogenesis and clinical significance of colonic involvement in Fabry disease.
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