Clinical presentation and factors associated with gluten exposure in children with celiac disease

ObjectivesThe prevalence of celiac disease (CeD) is increasing, yet it is still underdiagnosed, in part because of its heterogeneous presentation. Diagnostic criteria are evolving and management with strict adherence to a gluten-free diet is challenging for many. We aimed to characterize the clinical presentation of CeD among a large multicenter cohort of pediatric patients and to identify factors associated with gluten-free diet adherence.MethodsPatients with CeD aged 0-18 years were recruited from 11 United States health centers. Parents completed surveys about gluten-free diet adherence and patient electronic health records were reviewed. Logistic regression analyses were performed to identify risk factors associated with gluten exposure.ResultsCharts were reviewed for 460 children with a median age of 6.4 years. Abdominal pain was reported in 57% of the cohort, but diverse symptoms were identified. Parent surveys were completed for 455 participants. Sixty-five (14%) participants were at high risk for gluten exposure based on parental reports of weekly or daily gluten exposure or eating gluten by choice in the past year. Participants under the age of 5 years had a lower risk of gluten exposure, while participants without repeat serology testing 18 months after initial diagnosis were at higher risk of gluten exposure.ConclusionsIn a large, multicenter cohort of pediatric CeD patients, clinical presentation is highly variable, necessitating a high index of suspicion to make a diagnosis. Parent surveys indicate that 14% of patients are at high risk of gluten exposure, with patient age and lack of close follow-up associated with gluten-free diet adherence. image What is Known Variable presentation, including a complete lack of symptoms or symptoms involving diverse body systems, results in the underdiagnosis of celiac disease. Adherence to a strict gluten-free diet remains the cornerstone of treatment.What is New Nearly 14% of children in the cohort were at high risk of gluten exposure based upon parental reports of weekly or daily gluten ingestion or intentional gluten ingestion in the past year. Increased risk of gluten exposure was associated with a lack of repeat serology testing at least 18 months postdiagnosis. Clinicians in all specialties should maintain a high index of suspicion for celiac disease given the wide range of presentations. Follow-up with gastroenterologists may improve adherence to a gluten-free diet.