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Celiac Disease

Clinical Subject Page

Celiac Disease

Esophageal carcinoma is a malignant tumor of the esophagus. The two major histological types are
esophageal adenocarcinoma and esophageal squamous cell carcinoma (SCC).

Also called

Gluten-Sensitive Enteropathy

ICD-10

K90.0

Specialty

Gastroenterology

Onset

Chronic

Reviewed

July 2026

On This Page

Overview

  • The immune system attacks the small intestine after gluten exposure.
  • This causes villous atrophy (flattening of the intestinal villi), leading to poor nutrient absorption (malabsorption).

Etiology & Risk Factors

Celiac disease is caused by a maladaptive immune response to gluten (a protein found in grains such as wheat) in genetically predisposed individuals.

The underlying mechanism involves:

  • Gluten intolerance triggering an autoimmune reaction
  • Production of autoantibodies against tissue transglutaminase (tTG) in the proximal small intestine
  • Association with HLA variants that predispose to excessive immune responses

Risk factors

Factors associated with an increased risk of celiac disease include:

  • Genetic predisposition, particularly HLA-DQ2 and HLA-DQ8
  • Female sex (♀ > ♂)
  • Northern European ancestry
  • Presence of other autoimmune diseases, as these share HLA-associated immune susceptibility

Additional epidemiologic features:

  • Can occur at any age
  • Peak incidence:
    • 8–12 months of age (typically 2–3 months after first gluten exposure)
    • Third to fourth decade of life

Pathophysiology

Gluten ingestion (gliadin) → tTG modifies gliadin → Immune (T-cell) activation in genetically susceptible individuals → Chronic inflammation of the small intestine → Villous atrophy + crypt hyperplasia + brush border loss → Malabsorption → Nutrient deficiencies and gastrointestinal symptoms

Clinical Presentation

    • Gastrointestinal Symptoms
    • Chronic or recurrent diarrhea
    • Steatorrhea (fatty stools)
    • Abdominal bloating, flatulence, and pain
    • Nausea/vomiting
    • Poor appetite
    • Constipation (less common)

    Extraintestinal Symptoms

    • Fatigue
    • Weight loss
    • Iron deficiency anemia and other vitamin deficiencies
    • Osteoporosis or hypocalcemia
    • Dermatitis herpetiformis (itchy blistering rash)
    • Peripheral neuropathy, headache, ataxia, depression, irritability

    Children

    • Failure to thrive
    • Growth failure
    • Delayed puberty

History Taking

  • Ask about:

    • Do you have chronic diarrhea or loose stools?
    • Are your stools greasy, bulky, or difficult to flush?
    • Do you have abdominal pain, bloating, or excessive gas?
    • Have you had unexplained weight loss?
    • Do you often feel tired or weak?
    • Have you been told you have iron deficiency anemia or other vitamin deficiencies?
    • Do your symptoms worsen after eating foods containing wheat, barley, or rye?
    • Do you have an itchy, blistering skin rash?
    • Is there a family history of celiac disease?
    • Do you or your family have other autoimmune diseases (e.g., type 1 diabetes or thyroid disease)?

Physical Examination

  • Weight loss or low BMI
  • Pallor (suggesting anemia)
  • Signs of dehydration (if severe diarrhea)
  • Abdominal distension/bloating
  • Abdominal tenderness (may be mild)
  • Dermatitis herpetiformis (itchy, blistering rash)
  • Signs of malnutrition (muscle wasting)
  • Growth failure or delayed puberty (in children)
  • Signs of vitamin deficiencies (e.g., glossitis, osteoporosis)

Investigations

  • Laboratory Tests

    • tTG-IgA (tissue transglutaminase IgA) – first-line screening test
    • Total serum IgA – check for IgA deficiency
    • If IgA deficient:
      • tTG-IgG
      • Deamidated gliadin peptide (DGP-IgG)
    • Endomysial antibody (EMA) – confirmatory serologic test
    • Screen for nutrient deficiencies:
      • CBC, iron/ferritin
      • Folate, vitamin B12
      • Calcium, vitamin D, zinc

    Confirmatory Test

    • Upper GI endoscopy (EGD) with multiple duodenal biopsies
      • Shows villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes

    Additional Tests (if needed)

    • HLA-DQ2/HLA-DQ8 genetic testing
    • Gluten challenge (if already on a gluten-free diet before testing)

Diagnosis

    • Diagnosis is based on:
    • Clinical suspicion (symptoms or risk factors)
    • Positive serology:
    • tTG-IgA (first-line)
    • Total IgA
    • ± EMA or DGP-IgG (if IgA deficient)
    • Confirmation: Upper GI endoscopy (EGD) with duodenal biopsy
    • Shows villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes
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Management

Main Treatment :

    • Strict lifelong gluten-free diet(cornerston)
    • Avoid wheat, rye, barley, and spelt
    • Eat naturally gluten-free foods (e.g., rice, corn, potatoes, soybeans, millet)
    • Supportive Management
    • Replace iron and vitamin/mineral deficiencies (e.g., iron, vitamin B12, folate, vitamin D, calcium)
    • Avoid milk products temporarily if secondary lactose intolerance is present
    • Refer to a dietitian for nutrition counseling
    • Consider osteoporosis screening in adults
    • Regular follow-up to assess symptom improvement and dietary adherence

Complications

  • Malnutrition and nutrient deficiencies
  • Secondary lactose intolerance (lactase deficiency)
  • Osteoporosis/osteopenia (from malabsorption)
  • Iron deficiency anemia
  • Refractory celiac disease (persistent symptoms despite a strict gluten-free diet)
  • Ulcerative jejunitis (in severe refractory disease)
  • Increased risk of malignancy, especially:
  • Enteropathy-associated T-cell lymphoma (EATL)
  • Small bowel adenocarcinoma

Prognosis

  • Excellent prognosis with a strict lifelong gluten-free diet
  • Symptoms usually improve quickly, and intestinal healing occurs with continued dietary adherence.
  • A gluten-free diet reduces the risk of complications, including intestinal lymphoma.
  • Poor adherence to the diet increases the risk of persistent symptoms, malabsorption, and long-term complications.
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Key Points / Clinical Pearls

  • Autoimmune disease triggered by gluten (wheat, rye, barley, spelt).
  • Causes damage to the small-intestinal villi → malabsorption.
  • Common symptoms: chronic diarrhea, bloating, weight loss, fatigue, and iron deficiency anemia.
  • First-line test: tTG-IgA + total IgA.
  • Confirm diagnosis: Upper GI endoscopy with duodenal biopsy.
  • Do not start a gluten-free diet before diagnostic testing if possible.
  • Treatment: Strict lifelong gluten-free diet.
  • Correct vitamin and mineral deficiencies.
  • Untreated disease can lead to osteoporosis, malnutrition, infertility, and intestinal lymphoma.
  • Prognosis is excellent with good adherence to a gluten-free diet.