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Celiac disease
Other Resources UpToDate PubMed

Celiac disease

Contributors: Michael W. Winter MD, Christine Osborne MD, Desiree Rivera-Nieves MD, Khaled Bittar MD, Nishant H. Patel MD
Other Resources UpToDate PubMed


Celiac disease, or gluten-sensitive enteropathy, is an autoimmune disease resulting in maldigestion and malabsorption of nutrients when patients are exposed to gliadin, the alcohol-soluble portion of gluten. Gluten is commonly found in wheat-, rye-, and barley-containing foods. Ingestion of gluten leads to intestinal lymphocyte infiltration with crypt hyperplasia and blunting of intestinal villi, leading to symptoms of malabsorption.

The prevalence of celiac disease is approximately 1% in the United States population, and risk is increased in those with type 1 diabetes, trisomy 21, thyroid disease, Turner syndrome, or a family history of celiac disease in a first-degree relative.

Common clinical presentation includes foul-smelling chronic diarrhea, steatorrhea, flatulence, bloating, post-prandial abdominal pain, and weight loss. Children may present with failure to thrive or with deviations from their growth curve. Other extraintestinal manifestations include iron deficiency anemia, dermatitis herpetiformis, weakness, amenorrhea, and osteopenia / osteoporosis. Celiac disease can also present as an otherwise unexplained elevation in liver function tests (alanine transaminase [ALT] and aspartate transaminase [AST] primarily), fat-soluble vitamin deficiency (vitamins A, D, E, and K), and copper deficiency. Rarely, patients have had adrenal insufficiency associated with celiac disease.


K90.0 – Celiac disease

396331005 – Celiac disease

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Differential Diagnosis & Pitfalls

  • Infectious acute gastroenteritis (Viral gastroenteritis, bacterial, etc)
  • Cystic fibrosis
  • Intestinal lymphangiectasias
  • Whipple disease
  • Zollinger-Ellison syndrome
  • Inflammatory bowel disease (eg, Crohn disease, Ulcerative colitis)
  • Bile acid diarrhea
  • Irritable bowel syndrome
  • Non-Hodgkin lymphoma
  • Protein-losing enteropathy
  • Collagenous colitis
  • Lymphocytic colitis
  • Eosinophilic gastroenteritis
  • Hypothyroidism
  • Tropical sprue
  • Small-bowel bacterial overgrowth
  • Drug-associated enteropathy
  • Eosinophilic enteritis
  • Intestinal Lymphoma
  • Tuberculous enteritis
  • Malnutrition
  • Enteropathy of Acquired immune deficiency syndrome

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Last Updated:01/12/2022
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Celiac disease
A medical illustration showing key findings of Celiac disease (Non-Gastrointestinal) : Hypotonia, Short stature, Osteopenia, Paresthesias
Copyright © 2024 VisualDx®. All rights reserved.