The Changing Clinical Presentation of Celiac Disease

The incidence, the age at presentation and the features of celiac disease (CD) in children have changed considerably over the past 20 years. CD is now believed to be the most common genetically predetermined condition in humans with a prevalence of 1%. Only approximately one third of the patients presents with diarrhea while one third is diagnosed upon screening, and one fifth presents with nonspecific recurrent abdominal pain. Furthermore, it is apparent that most children with CD remain undiagnosed. Another trend is the presentation later in life with atypical symptoms such as anemia, bone disorder and growth failure. The increasing number of CD-associated autoimmune disorders, like insulin-dependent diabetes mellitus, dermatitis herpetiformis, alopecia, Sjögren’s syndrome, autoimmune thyroiditis, autoimmune hepatitis, and atrophic gastritis, is apparent. Currently most patients present with subtle or non-gastrointestinal manifestations at a later age. Median age at presentation of children has shifted from 4 to 8 years. Copyright © 2008 S. Karger AG, Basel The incidence, age at presentation and the features of celiac disease (CD) in children have changed considerably over the past 20 years. In the past, CD presented most commonly either very early in life, between 9 and 24 months, or in the third or fourth decade of life [1–6]. In contrast to the equal sex ratio in children, twice to thrice as many females were diagnosed in adulthood [6]. Clinical Presentation – Past and Present In the past infants and toddlers presented primarily with gastrointestinal manifestations and malabsorption characterized by diarrhea, steatorrhea, abdominal distention, wasted buttocks, hypotonia, growth failure, weight loss, anemia, anorexia, irritability, malnutrition and associated nutritional deficiencies (fat-soluble vitamins, electrolytes, etc.). Some, however, manifested with recurrent vomiting or constipation even with rectal prolapse and intussusception. In contrast, in recent studies the gastrointestinal manifestations are less prominent at diagnosis. Only 36–42% presented with diarrhea while 26% were diagnosed upon targeted screening and 16% presented with nonspecific recurrent abdominal pain [7, 8]. Furthermore, it is apparent that most children with CD remain undiagnosed. Another trend is the presentation later in life with atypical symptoms such as anemia, bone disorders or autoimmune diseases [6]. Fasano A, Troncone R, Branski D (eds): Frontiers in Celiac Disease. Pediatr Adolesc Med. Basel, Karger, 2008, vol 12, pp 18–22 The Changing Clinical Presentation of Celiac Disease E. Lebenthal E. Shteyer D. Branski Pediatric Gastroenterology, Division of Pediatrics, Hadassah University Hospitals,