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Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease
Gastroenterology
|May 1, 1982
Summary
Fabry disease, a rare glycolipid metabolism disorder, can cause gastrointestinal issues like diarrhea and early satiety due to sphingolipid buildup in nerve cells. Treatment with metoclopramide and tetracycline showed prompt symptom relief.
Area of Science:
- Gastroenterology
- Metabolic Disorders
- Genetics
Background:
- Fabry disease is a rare, X-linked glycolipid metabolism disorder.
- Gastrointestinal manifestations are not commonly recognized but can significantly impact quality of life.
Observation:
- A patient presented with watery diarrhea, early satiety, and asymptomatic cholelithiasis.
- Jejunal aspirate revealed bacterial overgrowth, and sigmoidoscopy showed rectal angiokeratoma.
- Gastric emptying was prolonged, fasting gastrin elevated, and bile acid loss increased.
Findings:
- Microscopy identified enlarged ganglion cells with osmiophilic deposits in the submucosal plexus and vascular endothelium.
- These deposits are characteristic of sphingolipid accumulation.
- Diarrhea and early satiety responded to metoclopramide and tetracycline.
Implications:
- Delayed gastric emptying and diarrhea in this patient were attributed to sphingolipid deposition in the autonomic nervous system.
- This suggests a potential mechanism for gastrointestinal dysfunction in Fabry disease.
- Early recognition and management of GI symptoms may improve patient outcomes.
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