What are the guidelines for screening and managing celiac disease in pediatric patients?

Pediatric Celiac Disease Screening and Management Guidelines

Pediatric patients should be screened for celiac disease by measuring IgA tissue transglutaminase (tTG) antibodies with documentation of normal total serum IgA levels, with repeat screening within 2 years of diagnosis and then again after 5 years for those at risk.1

Screening Recommendations

Who to Screen

• Screen children with type 1 diabetes for celiac disease soon after diagnosis 1
• Screen children with symptoms suggestive of celiac disease (diarrhea, weight loss, poor weight gain, growth failure, abdominal pain, chronic fatigue, unexplained hypoglycemia) 1, 2
• Screen children with first-degree relatives with celiac disease 1, 2
• Consider screening children with other autoimmune conditions (autoimmune thyroid disease, type 1 diabetes) 1, 2
• Consider screening children with Down syndrome, unexplained iron deficiency anemia, unexplained liver transaminase elevations, and premature osteoporosis 2

Initial Screening Tests

• Measure IgA tissue transglutaminase (tTG) antibodies as the preferred initial test 1
• Document normal total serum IgA levels to rule out IgA deficiency 1, 2
• If IgA deficient, use IgG tTG and deamidated gliadin antibodies instead 1
• All serologic testing must be performed while the patient is on a gluten-containing diet 2, 3
• For children under 2 years, combine tTG-IgA with IgG and IgA deamidated gliadin peptides 2

Screening Frequency

• Initial screening at diagnosis of type 1 diabetes or when symptoms develop 1
• Repeat screening within 2 years of initial screening 1
• Additional screening after 5 years 1
• Consider more frequent screening in children who have symptoms or a first-degree relative with celiac disease 1
• Measurement of tTG antibody should be considered at any time in patients with symptoms suggestive of celiac disease 1

Diagnostic Confirmation

Biopsy Recommendations

• Small-bowel biopsy in antibody-positive children is recommended to confirm the diagnosis 1, 2
• Collect at least 4 biopsies from the distal duodenum and at least 1 from the bulb 3
• Characteristic histologic findings include villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes 2, 3

Potential Non-Biopsy Approach

• European guidelines suggest biopsy may not be necessary in symptomatic children with high antibody titers (greater than 10 times the upper limit of normal) 1
• This approach requires verification of endomysial antibody positivity on a separate blood sample 1, 3
• It is advisable to check for celiac disease-associated HLA types in patients diagnosed without a small intestinal biopsy 1

Management

Treatment

• Individuals with biopsy-confirmed celiac disease should be placed on a gluten-free diet and have a consultation with a dietitian experienced in managing both diabetes and celiac disease 1
• Complete elimination of wheat, barley, and rye from the diet is essential 2
• The only effective treatment is strict, lifelong adherence to a gluten-free diet 2, 3
• In symptomatic children with type 1 diabetes and confirmed celiac disease, gluten-free diets reduce symptoms and rates of hypoglycemia 1

Monitoring

• Follow-up serologic testing to confirm adherence to gluten-free diet 2
• IgA-TGA acts as a surrogate marker for healing of the small-bowel mucosa 3
• Perform follow-up testing every 6 months until normalization and then every 12-24 months thereafter 3
• Monitor for nutritional deficiencies (iron, folate, vitamin D, vitamin B6) 2
• Regular assessment of growth and weight gain 1, 2

Common Pitfalls to Avoid

• Initiating a gluten-free diet before diagnostic testing can lead to false-negative results 2, 3
• Failing to test for IgA deficiency when performing celiac serology can lead to false-negative results 2
• Inadequate number of biopsy specimens can miss patchy mucosal lesions 2
• Overlooking extraintestinal manifestations (anemia, short stature, delayed puberty) can delay diagnosis 2, 4
• Incomplete elimination of gluten from diet can lead to persistent symptoms 2
• Assuming that all symptoms will resolve immediately after starting a gluten-free diet; some nutritional deficiencies may take time to correct 2