Understanding Celiac Disease for the General Pediatrician

Celiac disease is an autoimmune disease caused by a permanent sensitivity to gluten. It manifests as small intestinal enteropathy, which is ongoing intestinal damage, irritation, and swelling. Celiac disease can occur at any age and can present with both gastrointestinal and extraintestinal symptoms, making it challenging to diagnose. Lifelong, strict adherence to a gluten-free diet is currently the only treatment option. After diagnosis, multidisciplinary care, including regular visits with a gastroenterology physician or a dietitian, are useful to help families manage dietary modifications, lifestyle changes, and the psychological burden that adherence to a lifelong treatment regimen can incur. Children often first present with symptoms to their pediatrician, and it is reasonable for pediatricians to initiate celiac serology screening in the appropriate clinical scenario and consider referral to gastroenterology for ongoing care. Knowledge in the primary care setting regarding the presentation of celiac disease, identifying patient populations who are at risk, and ordering the appropriate tests are paramount to prevent diagnostic delay.