Case of the month from Maribor, Slovenia

8.5 years old boy with no family history of coeliac disease was reffered to the gastroenterology outpatient clinic because of 6 months long complaints of abdominal pain, nausea and positive coeliac disease serology performed at the primary care.

At the time of the first visit at the paediatric gastroenterologist clinic, he was already on a partial gluten-free diet. Basic laboratory tests were normal. Serological tests for coeliac disease showed low positive TGA (~3x ULN) and borderline positive EMA. He was found to be HLA DQ2 positive. Upper endoscopy was performed and histopathological changes were classified as Marsh 1. Since serological tests were positive and histopathological results did not show changes characteristic for coeliac disease, revision of the biopsy specimen was requested by the paediatric gastroenterologist. Histopathological results showed changes characteristic for Marsh 1 again. Due to the positive serology gluten-free diet was recommended until the end of puberty followed by gluten challenge with re-biopsy.

However, at the follow-up visit one year after the upper endoscopy, the boys mother said that the boy had not follow gluten-free diet since all the complaints resolved after oesophagogastroduodenoscopy and therapy with proton pump inhibitor. The boy has been eating normal amounts of gluten and had no abdominal pain or any other problems except lactose intolerance. At the follow-up visit, serological tests for coeliac disease were performed again and showed low positive TGA antibodies (~2x ULN) and borderline positive EMA. No other abnormalities were detected with laboratory investigations. It was planned to perform another upper endoscopy after half a year.

At the time of planned oesophagogastroduodenoscopy, which showed normal duodenal mucosa without histopathological signs of coeliac disease, TGA was performed again and this time the result was negative (just below ULN). However, it was again requested by the pediatric gastroenterologist to review the biopsy specimen, and this time the revision of the same specimen showed changes classified as Marsh 3a.

So, despite positive histology and negative serology for coeliac disease, it was decided that the boy probably has coeliac disease. However, he will be put on a gluten challenge again at the age of 18 years, when growth process will be finished.