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Key Features

Essentials of Diagnosis

  • In the classic form of celiac disease (CD), gastrointestinal (GI) symptoms begin soon after gluten-containing foods are introduced in the diet, usually between 6 and 24 months of age

  • CD presents any time after gluten is introduced in the diet, with symptoms of

    • Abdominal pain

    • Diarrhea

    • Vomiting

    • Distention

    • Constipation (sometimes)

  • Other manifestations

    • Oral ulcers

    • Pruritic rash (dermatitis herpetiformis)

    • Growth and pubertal delay

    • Iron deficiency anemia

    • Decreased bone mineralization

    • Arthritis

General Considerations

  • Disease frequency in Western populations approaches 1 in 100

  • Risk factors

    • Type 1 diabetes (4–10%)

    • Down syndrome (5–12%)

    • Turner syndrome (4–8%)

    • IgA deficiency (2– 8%)

    • Autoimmune thyroiditis (8%)

    • Family history of CD (5–10%)

  • Almost all patients with CD express HLA-DQ2 or DQ8 tissue antigens

Clinical Findings

Symptoms and Signs

  • Typical gastrointestinal manifestations

    • Chronic diarrhea

    • Abdominal distention

    • Irritability

    • Anorexia

    • Vomiting

    • Poor weight gain

  • Rare gastrointestinal manifestations

    • Celiac crisis, with dehydration, hypotension, hypokalemia, and explosive diarrhea

  • Older children may have

    • Chronic abdominal pain

    • Vomiting, diarrhea or constipation

    • Bloating that mimics lactose intolerance

    • Functional abdominal pain

    • Irritable bowel syndrome

  • Nongastrointestinal manifestations

    • Delayed puberty or short stature

    • Delayed menarche

  • CD should be considered in children with

    • Unexplained iron deficiency anemia

    • Decreased bone mineral density

    • Elevated liver function enzymes

    • Arthritis

    • Epilepsy with cerebral calcifications

Differential Diagnosis

  • Food allergy

  • Crohn disease

  • Postinfectious diarrhea

  • Immunodeficiencies

  • Graft-versus-host disease

  • Hypergastrinemia (Zollinger-Ellison syndrome)


Laboratory Findings

  • Serologic and genetic testing

    • Screening tests exist with excellent sensitivity and specificity

    • In IgA-sufficient patients these are the IgA antitissue transglutaminase, IgA antiendomysial and IgA/IgG antideamidated gliadin peptide antibodies

    • In IgA deficiency, IgG-based versions of these assays are available

    • Testing for HLA-DQ2 and DQ8 has a high negative predictive value; CD is unlikely to ever develop in family members whose test results are negative

  • Stools may have partially digested fat and may be acidic

  • Hypoalbuminemia can be severe enough to lead to edema

  • Anemia with low mean corpuscular volume and evidence of iron deficiency is common

Diagnostic Procedures

  • Light microscopy

    • Characteristic duodenal biopsy findings are villous atrophy with increased numbers of intraepithelial lymphocytes

    • Findings may be patchy



  • Lifelong dietary gluten restriction for life

    • All sources of wheat, rye, and barley are eliminated

    • Most, but not all, patients tolerate oats

  • Supplemental calories, vitamins, and minerals are indicated only in the acute phase


  • Corticosteroids are indicated for celiac crisis with profound anorexia, edema, abdominal distention, and hypokalemia



  • Adherence to gluten-free diet is associated with normal life

  • Individuals with ...

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