Related Experiment Video
Updated: Apr 30, 2026
09:44
Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis
Published on: October 14, 2025
631
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
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.
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.
Related Concept Videos
01:30Inflammatory Bowel Disease II: Crohn's Disease
1.6K
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
1.6K
01:25Inflammatory Bowel Disease III: Crohn's Disease
35
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
35
01:20Inflammatory Bowel Disease IV: Clinical Manifestations
33
Inflammatory bowel disease (IBD) encompasses two major chronic disorders—ulcerative colitis and Crohn’s disease—each characterized by relapsing episodes of gastrointestinal inflammation. Although they share certain clinical features, their patterns of involvement and manifestations differ in ways that aid diagnosis and guide management.Ulcerative ColitisUlcerative colitis is limited to the colon and rectum and involves continuous inflammation of the mucosal layer. The...
33
01:26Inflammatory Bowel Disease I: Introduction
42
Inflammatory bowel disease is a group of chronic disorders marked by recurrent inflammation of the gastrointestinal tract due to an abnormal immune response against gut microflora. This leads to tissue damage. The two main forms are Crohn’s disease and ulcerative colitis.Crohn’s DiseaseCrohn’s disease is a relapsing inflammatory disorder that can affect any part of the GI tract, from the mouth to the anus. It involves all layers of the bowel wall (transmural) and shows...
42
01:17Chronic Bowel Disorders: Introduction
900
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
900
01:20Inflammatory Bowel Disease II: Ulcerative Colitis
34
Ulcerative colitis is a chronic inflammatory disorder of the colon characterized by continuous mucosal inflammation that typically begins in the rectum and extends proximally in a uniform pattern. Its pathogenesis involves a complex interplay of genetic predisposition, immune dysregulation, and environmental influences. These factors converge to impair the colon’s epithelial defenses and promote an exaggerated inflammatory response against luminal contents.Breakdown of the Mucosal...
34