Children at increased risk for celiac disease should continue to be monitored even after they have had a negative screening result once - a review of six patients

Abstract

Celiac disease is more common in people with certain autoimmune diseases (type I diabetes, autoimmune thyroid disease, autoimmune liver disease), chromosomal abnormalities (Down syndrome, Turner syndrome or Williamson syndrome), immunoglobulin A deficiency or a positive family history of celiac disease. These people should be screened for celiac disease even if they have no symptoms. In this case report, we would like to present six patients who were found to have an increased risk of celiac disease and were later diagnosed with celiac disease at the Children's Hospital Zagreb despite an initially negative screening test. The patients in our case report were screened for the following risk factors: a positive family history, Down syndrome or type I diabetes. All patients initially had a negative screening test for celiac disease. The age at the start of screening varied (earliest at 16 months and latest at 3 years), as did the time it took for an initially negative screening test to become positive later in life (between 6 months and 8.5 years) and for the final diagnosis of celiac disease to be made (the earliest age at diagnosis was 22 months). The diagnosis was made in all our patients based on the guidelines of the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN). In summary, a single negative screening result in children with an increased risk of celiac disease does not rule out celiac disease. As celiac disease can occur at any age, children at increased risk should be regularly monitored and screened for celiac disease.