A 17-years old adolescent came to the gastroenterology department of University Children’s Hospital because of dysphagia and the feeling of food impaction in the oesophagus. He also reported that he had abdominal pain for years, usually after taking food with gluten. He denied having any other gastrointestinal problems. According to primary paediatrician’s advice, the FODMAP diet was started a few weeks ago and the pain was significantly reduced. On physical examination he was obese (Height 187 cm, Weight 96 kg, BMI 27.4 kg/m2). CBC and biochemical analyses as well as thyroid status and iron status were normal. Total IgA was normal, while TGA IgA was significantly elevated (> 200 U/ml).
Due to dysphagia and a suspicion of eosinophilic esophagitis, the patient underwent esophagogastroduodenoscopy. The esophageal longitudinal furrows and mild trachealization were seen. Esophageal histopathology confirmed eosinophilic esophagitis. However, the histopathology of duodenal biopsy was normal.
Although the patient had been on the FODMAP diet for several weeks before the biopsy, as the TGAs were significantly elevated, it was expected that the histopathology finding of the mucosal biopsy would show changes indicative for celiac disease. The patient underwent genetic analysis, and it came back as DQ 2.5 positive.
After discussing it with parents, it was agreed to start therapy with proton pump inhibitor due to eosinophilic esophagitis. As endoscopy was necessary due to eosinophilic esophagitis follow up, it was agreed to consume gluten without restriction for the next two months.
After two months, the symptoms of dysphagia were somewhat better, but still present. Abdominal pain was more intense. Control TGAs were> 200 U/ml and EMA 1/80. Control endoscopy was performed. Biopsy of the small intestinal mucosa showed changes corresponding to Marsh 3c according to the Marsh Oberhuber classification. The diagnosis of celiac disease was definitely made and a gluten-free diet was introduced into the diet.
This is one more example of why it is important that the patient does not exclude gluten from the diet until the final diagnosis of celiac disease.