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Related Concept Videos

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Related Experiment Video

Updated: Apr 30, 2026

Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis
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Fabry disease simulating Crohn's ileitis.

Carlos A Rubio1, Elizabeth Villnow, Birgitta Sundelin

  • 1Gastrointestinal and Liver Pathology Research Laboratory, Department of Pathology, Karolinska Institute and University Hospital, 17176, Stockholm, Sweden. Carlos.Rubio@ki.se.

Anticancer Research
|April 30, 2014
PubMed
Summary

Fabry disease, a genetic disorder, can mimic Crohn's disease symptoms due to globotriaosylceramide buildup. This case highlights gastrointestinal manifestations of Fabry disease, crucial for accurate diagnosis.

Keywords:
Crohn-likeFabry diseasebi-refringent lamellar depositscalcificationssmall bowel

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Area of Science:

  • Genetics and Metabolism
  • Gastroenterology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • It results from alpha-galactosidase A deficiency, causing globotriaosylceramide accumulation.
  • This accumulation affects various tissues, leading to diverse clinical presentations.

Observation:

  • A 57-year-old male presented with severe abdominal pain, fever, weight loss, and diarrhea.
  • Initial diagnosis suggested Crohn's ileitis, supported by imaging and surgical findings.
  • Histopathology revealed inflammation, vascular changes, fibrosis, and characteristic globotriaosylceramide deposits.

Findings:

  • Microscopic examination showed bi-refringent lamellar deposits and calcifications.
  • Giant cells contained phagocytized material, and electron microscopy revealed zebra-like structures.
  • These findings confirmed Fabry disease with significant gastrointestinal involvement.

Implications:

  • The gastrointestinal phenotype of Fabry disease can closely resemble Crohn's disease.
  • This case underscores the importance of considering Fabry disease in differential diagnoses for inflammatory bowel conditions.
  • Accurate diagnosis is vital for appropriate management and treatment of Fabry disease patients.