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Celiac Disease Comprehensive Panel, Infant

Celiac Disease Comprehensive Panel, Infant

Test Summary

Celiac Disease Comprehensive Panel, Infant

  

Clinical Use

  • Diagnose celiac disease in patients younger than 4 years (<48 months) of age

Clinical Background

Celiac disease (CD) is caused by an immune response to gluten in genetically susceptible individuals. Patients may develop partial to complete villous atrophy of the small intestine, crypt hyperplasia, and lymphocytic infiltration of the epithelium and lamina propria. CD is more common than once thought, affecting as many as 1 in 80 children between 2.5 and 15 years of age.1 The prevalence is even higher among children in high-risk groups, including those with insulin-dependent diabetes mellitus; autoimmune thyroiditis; Down, Turner, or Williams syndrome; selective IgA deficiency; or a family history of CD (first-degree relative).1,2 Diarrhea with failure to thrive, abdominal pain, vomiting, constipation, and abdominal distension are common presenting symptoms, but patients, especially those in high-risk groups, may be asymptomatic. Early diagnosis and initiation of a gluten-free diet in children can lead to a more rapid and more complete histologic improvement than is seen in adults.2

Diagnosis is based on biopsy of the small intestine, but serologic assays help identify patients who require this invasive procedure. Tissue transglutaminase antibody (tTG; IgA) is an excellent first-line marker, with high sensitivity (96%) and specificity (99%).2 The endomysial antibody (EMA; IgA) assay has high specificity for CD and is used to confirm positive IgA anti-tTG results. Although this panel tests for EMA only when tTG IgA results are positive, EMA testing can be ordered separately if the anti-tTG result is negative but clinical suspicion remains high. Some patients with limited villous atrophy have been reported to lack EMA and tTG antibodies; testing for antigliadin antibody (AGA; IgA) may help detect CD in such patients.3 Furthermore, AGA has been reported to be more sensitive for the detection of CD in children <2 years of age than in older children.4 Total serum IgA is measured to identify patients with selective IgA deficiency; such patients would have negative results on IgA anti-tTG and EMA assays but may have positive IgG anti-tTG results.

Because levels of anti-tTG and EMA tend to wane in the absence of gluten ingestion, these markers are useful to monitor adherence to a gluten-free diet. Testing frequencies of every 6 months after starting the gluten-free diet and 1 year in asymptomatic individuals have been recommended.1 Testing can also be performed at any time in individuals with persistent or recurrent symptoms.1 Tests available include Tissue Transglutaminase Antibody (IgA) (test code 8821) and Endomysial Antibody Screen (IgA) with Reflex to Titer (test code 15064).

Method

This panel includes a test for 1) tTG IgA antibodies (enzyme-linked immunosorbent assay [ELISA]), 2) gliadin IgA antibodies (ELISA), and 3) total IgA concentration (immunoturbidometry). When the tTG IgA test is positive, an EMA IgA antibody test is performed (immunofluorescence assay); if positive, the EMA titer will be determined and reported. If the IgA concentration is low, a tTG IgG antibody test will be performed (ELISA). There is an additional charge, associated with an additional CPT code, for the latter 3 tests (EMA IgA, EMA titer, and tTG IgG).

References

  1. Hill ID, Dirks MH, Liptak GS, et al. Guideline for the diagnosis and treatment of celiac disease in children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr. 2005;40:1-19.

  2. Rostom A, Murray JA, Kagnoff MF. American Gastroenterological Association (AGA) Institute technical review on the diagnosis and management of celiac disease. Gastroenterology. 2006;131:1981-2002.

  3. Green PH, Jabri B. Coeliac disease. Lancet. 2003;362:383-391.

  4. Grodzinsky E, Ivarsson A, Juto P, et al. New automated immunoassay measuring immunoglobulin A antigliadin antibodies for prediction of celiac disease in children. Clin Diagn Lab Immunol. 2001;8:564-570.
     

Content reviewed 12/2012

 
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