Celiac Disease (Gluten Enteropathy)

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)

Diagnosis

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

Treatment

Nonpharmacologic

• 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

Pharmacologic

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

Outcome

Prognosis

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

• Individuals with ...