Practical considerations for the identification and follow-up of children with celiac disease

Abstract

Celiac disease is an immune-mediated enteropathy affecting 0.5% to 1% of children and is induced by dietary gluten in susceptible individuals carrying the human leukocyte antigen DQ2 or DQ8 heterodimer. If serological screening is positive or if a patient displays suggestive symptoms, an endoscopic biopsy of the distal duodenum is required to confirm the diagnosis. Symptoms of celiac disease are often mild or absent. Overt malabsorption occurs in only 2% to 10% of children. Individuals with a higher risk of developing celiac disease, including first-degree relatives of affected patients and children with type I diabetes, Turner syndrome, Williams syndrome or Down syndrome, should be offered screening for celiac disease along with a discussion of the implications. If serological testing is negative, a high index of suspicion should remain if malabsorption, iron deficiency or osteopenia is present. Also, immunoglobulin A deficiency should be excluded. At-risk individuals should undergo serial serological screening. Lifelong adherence to a gluten-free diet is the only treatment. If left untreated, symptomatic children with celiac disease carry an increased risk of developing osteoporosis and have a greater lifetime risk of cancer. The long-term outcome of undiagnosed or untreated asymptomatic individuals is less clear.Key Words: Celiac disease; Gluten-free diet; Gluten-sensitive enteropathy; IgA deficiency; Tissue transglutaminase; Type I diabetes Des considérations pratiques pour dépister et suivre les enfants atteints d'une maladie coeliaqueLa maladie coeliaque est une entéropathie d'origine immunologique qui touche de 0,5 % à 1,0 % des enfants et qui est induite par le gluten diététique chez des individus susceptibles porteurs de l'antigène HLA DQ2 ou DQ8 hétérodimère. Si le dépistage sérologique est positif ou si un patient présente des symptômes évocateurs, une biopsie endoscopique du duodénum distal s'impose pour confirmer le diagnostic. Les symptômes de maladie coeliaque sont souvent légers ou inexistants. Une malabsorption patente ne s'observe que chez 2 % à 10 % des enfants. Les individus plus vulnérables à la maladie coeliaque, y compris les parents au premier degré des patients atteints et les enfants souffrant