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Small bowel ischaemia in Fabry's disease
D L Jardine1, M A Fitzpatrick, W D Troughton
1Department of Internal Medicine, Princess Margaret Hospital, Christchurch, New Zealand.
Journal of Gastroenterology and Hepatology
|March 1, 1994
Summary
A patient with Fabry's disease died from small bowel infarction, complicated by superior mesenteric artery stenosis. Early diagnosis of this treatable condition is crucial for patients with chronic abdominal pain.
Area of Science:
- Gastroenterology
- Vascular Surgery
- Genetics
Background:
- Fabry's disease is a rare genetic disorder affecting multiple organs.
- Chronic post-prandial abdominal pain can be debilitating.
- Small bowel infarction is a serious complication with high mortality.
Observation:
- A patient with diagnosed Fabry's disease and chronic abdominal pain experienced fatal small bowel infarction.
- Autopsy revealed Fabry's deposits in the bowel's small vessels and nerves.
- A localized atheromatous stenosis of the superior mesenteric artery was also identified.
Findings:
- The superior mesenteric artery stenosis was likely the primary cause of the patient's terminal illness and chronic symptoms.
- Fabry's disease deposits were present but may not have been the sole cause of the infarction.
- Coexisting large vessel disease (atherosclerosis) significantly contributed to the pathology.
Implications:
- Mesenteric angiography should be considered in patients with chronic post-prandial pain to rule out treatable large vessel disease.
- Early identification and intervention for superior mesenteric artery stenosis can prevent catastrophic outcomes.
- This case highlights the importance of considering multiple pathologies in complex patient presentations.