Challenging case: Diagnosing Celiac Disease

celica biopsies

Diagnosing pediatric celiac disease, an autoimmune enteropathy triggered by ingestion of gluten (found in wheat, rye, barley and standard oats), can be challenging.  Despite its high prevalence, effecting approximately 1 percent of the population, many cases go unrecognized.

Presenting signs and symptoms of pediatric celiac disease are varied, ranging from gastrointestinal symptoms such as abdominal pain, diarrhea or constipation to extraintestinal symptoms, such as low energy, poor growth or delayed puberty. Symptoms can be subtle, intermittent or nonexistent. High-risk children include those with autoimmune disease (such as type 1 diabetes mellitus and thyroid disease) and with a family member with celiac disease.

Identifying which children need testing for celiac disease is the first step but is not the only part of the evaluation that can get complicated. Positive celiac serology, such as tissue transglutaminase IgA and endomysial IgA, are typically excellent predictors of celiac disease diagnosis. However, it is important to remember that children without celiac disease can have positive test results. For this reason, small bowel biopsy via esophagogastroduodenoscopy (EGD) before starting a gluten free diet, is still the gold standard for diagnosing celiac disease.

The case

An 8-year-old, overweight boy with TIDM presents with a three-month history of intermittent periumbilical abdominal pain, intermittent distension a one-month history of intermittent loose, non-bloody stools occurring one to two times a week. As part of his initial evaluation for these symptoms by his pediatrician, lab work was ordered and was remarkable for a positive TTG IgA of 32 (normal less than 19) and a positive endomysial antibody.

The patient was evaluated by a team in the Boston Children’s Gastroenterology Celiac Disease Program and underwent EGD with biopsies for further evaluation. His endoscopy was normal with entirely normal appearing small bowel biopsies (one from the duodenal bulb and three from the second portion of duodenum). Shortly after his endoscopy, his symptoms of abdominal pain, distention and intermittent diarrhea self-resolved. He and his family reported that he remained on a gluten-containing diet both prior to and after his endoscopy. Given his normal duodenal biopsies and lack of symptoms, he was advised to remain on a gluten-containing diet with close monitoring.

Children with positive celiac serology but discordant normal small bowel biopsies, like this patient, are seen at Boston Children’s celiac clinic and well described in the literature. These cases are termed “potential celiac disease.” In patients with clear signs or symptoms suggestive of celiac disease, many gastroenterologists will consider a gluten-free trial in these circumstances. Celiac disease can have patchy distribution of intestinal damage in the small intestine with normal small intestine directly next to areas of classic intestinal damage, and the risk of sampling error and missed diagnosis exists. However, the social and economic burdens of a strict gluten-free diet in the U.S., is not small. In patients with potential celiac disease with no symptoms, many experts will advise continuing a gluten-containing diet with close monitoring.

Long-term, follow-up studies suggest that in asymptomatic children with potential celiac disease about one-third will go on to develop celiac disease in the future.

Follow-up: Was it celiac?

Ten months later, the 8-year-old patient presented to Gastroenterology Clinic with recurrent periumbilical abdominal pain several times a week, associated with nausea once a week. Repeat celiac serology was remarkable for a TTG IgA of 73 (normal less than 19) and a positive endomysial antibody. He underwent repeat EGD with biopsies and, while grossly normal appearing, six duodenal biopsies were obtained (two in the duodenal bulb and four in the duodenum). His duodenal biopsies showed increased intraepithelial antibodies in the duodenum and duodenal bulb with villous blunting noted in the bulb, confirming the diagnosis of celiac disease.

He and his family received education and support from our celiac disease specialized pediatric dietician and celiac team and was started on a strict gluten-free diet with close vigilance to reduce gluten cross-contamination.

At follow up, he and his family reported that his abdominal pain and nausea resolved completely within one month on a gluten free diet. His celiac serology at approximately six months on a gluten free diet had completely normalized with a TTG of nine and negative endomysial antibodies.

This case illustrates some of the challenges in making the diagnosis of celiac disease, highlighting the need for ongoing close monitoring and reassessment in high-risk children with discordant serologic and histopathologic findings.

Weir_Dascha2Dascha Weir, MD, is an attending physician and associate director of Boston Children’s Celiac Disease Program, and an instructor in pediatrics at Harvard Medical School.




Learn more about Boston Children’s Celiac Disease Program.