Intestinal manifestations of Fabry's disease

J. W. Rowe, J. I. Gilliam, T. A. Warthin

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


Four adult patients with Fabry's disease had intestinal involvement. One was asymptomatic, and 3 suffered from episodic diarrhea. In one patient, diarhhea 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.

Original languageEnglish
Pages (from-to)628-631
Number of pages4
JournalAnnals of Internal Medicine
Issue number5
StatePublished - 1974
Externally publishedYes


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