Pediatric Celiac Disease Workup

Updated: Apr 05, 2017
  • Author: Stefano Guandalini, MD; Chief Editor: Carmen Cuffari, MD  more...
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Workup

Laboratory Studies

Duodenal mucosa histology changes in celiac disease (CD) are documented while on a gluten-containing diet and are characterized by a progressive deterioration of the villous architecture associated with a progressive increase in crypt length and density. Biopsy samples are now almost universally obtained by endoscopy. Multiple biopsy samples (at least 4) are recommended because celiac disease may be patchy and areas of villous atrophy may be adjacent to normal areas. [40] In addition, biopsy from the duodenal bulb is also recommended, as about 2-3% of celiac children may have changes only in that part of the duodenum. [41] Although endoscopically visible changes have been described (eg, scalloping or nodularity of the mucosa, sparse duodenal folds), such changes are neither constant nor specific, and a diagnosis of celiac disease should never be based on their presence or absence.

In 2012, new diagnostic guidelines were introduced by the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN). [2] While confirming the same diagnostic process previously recommended by both the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) in 2005 [42] and those published by the American Gastroenterological Association (AGA) in 2006, [43] the new guidelines allow avoiding the confirmatory duodenal biopsy in selected cases, characterized by a child or teenager with gastrointestinal signs or symptoms consistent with celiac disease, a compatible HLA status, levels of tissue transglutaminase (TTG) elevated more than 10-fold, and positive endomysium (EMA).

In clinical practice, it is thus recommended to obtain first serologic tests for celiac disease (namely the anti-TTG-IgA) and then to proceed with the intestinal biopsy to diagnose the condition in positive cases. Serology, especially TTG, also has a major role in monitoring response to treatment.

The TTG and the EMA-IgA tests are both highly sensitive and highly specific, with values for both parameters exceeding 96% in most studies. No identifiable differences between adults and children are noted with respect to these tests, with the exception of very young children, younger than 2 years, for whom especially the sensitivity may be less than optimal. In this young age group, the use of deamidated gliadin peptides (DGPs) has been proposed, as they appear to have a better sensitivity. [44] DGPs are otherwise consistently overlapping with TTG in other age groups as for sensitivity and specificity. [45]

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Imaging Studies

Radiography of the GI tract with a barium swallow study and a small intestinal follow-through may show nonspecific changes because of the mucosal inflammation and possible concomitant protein-losing enteropathy (edema of the bowel walls, dispersion of the barium column). The findings are clearly nonspecific, and radiographic investigation is not indicated.

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Procedures

Most centers today include diagnostic duodenal biopsy during esophagogastroduodenoscopy (EGD). Obtaining at least 4 biopsy samples from the distal duodenum and 1 or 2 from the bulb is highly recommended because mucosal changes in celiac disease may be patchy. Colonoscopy may be indicated only if bloody stools are reported or if symptoms of colitis are also present.

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Histologic Findings

Mucosal biopsy of the duodenum shows the changes described in Workup. However, changes referred to as Marsh 1 or even Marsh 2 are nonspecific because they can also be found in food-allergic enteropathies, such as cow's milk allergy or soy allergy (especially in infancy). These changes are also observed in giardiasis and in autoimmune enteropathy.

Although also not pathognomonic for celiac disease, changes referred to as Marsh 3 are usually much more specific, especially if they are associated with supportive serology findings.

Evidence suggests that patients with Marsh type 1 changes who have a positive serology findings may develop more severe changes if they continue a gluten-containing diet; this challenges the idea that celiac disease is only observed in those who have more advanced findings. [46]

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