Celiac Disease

• Celiac disease is a permanent intolerance to dietary gluten in which exposure to gluten induces a small intestinal enteropathy
• Gluten is the major form of protein in wheat seed
• Gliadin (one of the immunogenicportions of gluten) is the alcohol-soluble component of wheat, rye and barley that is toxic to the small intestine of susceptible individuals.
• Gluten is a protein present in barley, rye, and wheat but not in rice. Oats generally are well tolerated in moderate amounts.

Clinical Presentations:

Classic gastrointestinal form

• Occurs in infants between ages of 6 and 18 months
• Poor weight gain or weight loss after introduction of cereals/breads
• Large, pale, loose stools, fat-malabsorption
• Abdominal distention, irritability, lethargy, loss of muscle mass
• Protein-losing enteropathy with edema in severe cases

Late-onset gastrointestinal form

• Includes the classic symptoms, but at a later age.
• Mild or intermittent diarrhea, weight loss, short stature, and abdominal distention.
• May have constipation instead of diarrhea
• Upper GI sx often occur, such as nausea, dyspepsia, vomiting

Extraintestinal form

• Short stature
• Dental enamel defects
• Iron resistant anemia, folatedeficiency
• Skin and mucous membrane findings (e.g., Dermatitis Herpetiformis)
• Poor bone mineralization, osteoporosis, fractures
• Behavioral or personality changes
• Asymptomaticsiblings

Major complications include: short stature; Dermatitis Herpetiformis; dental enamel hypoplasia; recurrent stomatitis; fertility problems; osteoporosis; ataxia and other neurological disturbances; intestinal lymphoma

Associated disorders include:

• Diabetes mellitus
• severe IgA deficiency
• thyroiditis
• chronic hepatitis
• IgA nephropathy
• cow’s milk sensitive enteropathy
• Sjogren’ssyndrome
• Down syndrome
• Williams syndrome
• Turner syndrome
• Dermatitis Herpetiformis = erythematous papules > urticarial papule > tense vesicles > pruritic > symmetric distribution
• alpha-1-antitrypsin deficiency
• Cystic fibrosis

Serologic screening tests:

• Anti-gliadin antibodies: IgG and IgA
• Anti-endomysial antibodies
• Anti-tissue transglutaminase antibodies
• HLA-typing (DQ2 and DQ8)
• Note: need to document that patient does not have IgA deficiency; if deficient then need a biopsy to make the diagnosis)

Treatment:

• Gluten-free diet for life
• Education regarding “hidden” sources of gluten in prepared food, medications, etc

CHLA Board Review 2005