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Celiac Disease

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Cite this article
AMA
MD A.. Celiac Disease. My Endo Consult. Published January 12, 2025. Accessed October 18, 2026. https://myendoconsult.com/learn/topics/celiac-disease/
APA
MD A. (2025). Celiac Disease. My Endo Consult. https://myendoconsult.com/learn/topics/celiac-disease/
Vancouver
MD A.. Celiac Disease [Internet]. My Endo Consult; January 12, 2025 [cited October 18, 2026]. Available from: https://myendoconsult.com/learn/topics/celiac-disease/
BibTeX
@online{myendoconsult4422624,
  author = {Akuffo Quarde, MD},
  title  = {Celiac Disease},
  organization = {My Endo Consult},
  year   = {2025},
  url    = {https://myendoconsult.com/learn/topics/celiac-disease/},
  urldate = {October 18, 2026}
}

OVERVIEW oF CELIAC DISEASE

  • Definition: Celiac disease (gluten-sensitive enteropathy, nontropical sprue) is a small bowel disorder characterized by:
    • Mucosal inflammation
    • Villous atrophy
    • Crypt hyperplasia
  • Cause: An immune-mediated disorder triggered by gliadin (component of gluten found in wheat, barley, and rye).
  • Prevalence: ~1 in 300 individuals (rarer in those of Chinese, Japanese, or African descent).

PATHOPHYSIOLOGY

  • Genetically determined immune process.
  • Gluten exposure → tissue transglutaminase (tTG) deamidates gliadin → enhanced immunogenicity → autoimmune reaction.
  • Key antibodies:
    • IgA anti-endomysium
    • IgA anti–tissue transglutaminase
  • Mechanism: Ongoing immune response damages the small intestinal villi → malabsorption.

CLINICAL PRESENTATION

  • Common malabsorption signs:
    • Steatorrhea (foul-smelling, floating stools)
    • Diarrhea
    • Weight loss
    • Abdominal pain/distension
  • Nutrient deficiencies:
    • Iron deficiency anemia (microcytic)
    • B vitamin deficiencies (e.g., vitamin B12)
    • Vitamin D and calcium deficiency → osteopenia, osteoporosis, osteomalacia
    • Vitamin K deficiency → easy bruising, coagulopathy
  • Other manifestations:
    • Growth failure in children
    • Dental enamel defects
    • Edema (protein loss)

ASSOCIATED CONDITIONS

  • Dermatitis herpetiformis (itchy papulovesicular rash)
  • Type 1 diabetes (5% of T1D patients have celiac disease)
  • Autoimmune thyroid disease
  • IgA deficiency
  • Liver disease
  • Down syndrome (up to 16% may have celiac disease)

DIAGNOSTIC EVALUATION

  1. Clinical suspicion:
    • Chronic diarrhea, malabsorption, weight loss
    • Iron/B12 deficiency
    • Osteopenia/osteoporosis
    • Infertility, short stature, delayed puberty
  2. Initial tests:
    • Serology (on a gluten-containing diet):
      • IgA tissue transglutaminase antibody (tTG-IgA)
      • IgA endomysial antibody (EMA)
    • If IgA is deficient → use IgG-based tests (tTG-IgG).
  3. Small bowel biopsy (gold standard for confirmation):
    • Villous atrophy
    • Crypt hyperplasia
    • Increased intraepithelial lymphocytes
  4. 72-hour stool fat (to document steatorrhea) is sometimes used to characterize malabsorption severity.

MANAGEMENT

  • Gluten-free diet (lifelong):
    • Eliminate wheat, rye, barley
    • Dietitian consultation
    • Focus on strict label reading for hidden gluten
  • Supplementation:
    • Correct nutrient/vitamin deficiencies (e.g., iron, vitamin B12, vitamin D, calcium, vitamin K)
  • Response:
    • Symptom improvement usually within ~2 weeks
    • Nonresponse often linked to inadvertent dietary gluten

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