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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
PubMed
Summary
This summary is machine-generated.

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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.

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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.