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Intestinal Manifestations of Fabry's Disease

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Grant support: U.S. Public Health Service grants HD05515 and N. S. 10330.

▸Address reprint requests to Dr. Warthin, Chief, Medical Service, West Roxbury Veterans Administration Hospital, West Roxbury, MA 02132.

West Roxbury and Boston, Massachusetts

Ann Intern Med. 1974;81(5):628-631. doi:10.7326/0003-4819-81-5-628
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Four adult patients with Fabry's disease had intestinal involvement. One was asymptomatic, and three suffered from episodic diarrhea. In one patient, diarrhea was the only clinical manifestation of Fabry's disease. Radiologic studies revealed similar changes in the small and large bowels of all four patients. Small bowel changes consisted of thickening of folds and mild dilatation throughout and the presence of an unusual granular appearance of the ileum. Barium enemas showed loss of the colonic haustral markings, particularly in the more distal colonic segments. Serial studies on the symptomatic patients, before and after the onset of diarrhea, showed progression of the radiographic changes. There was no evidence of malabsorption or gastrointestinal blood loss in any of the patients. Intestinal involvement may be common in Fabry's disease.





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