Prevalence and Natural History of Potential Celiac Disease in At-Family-Risk Infants Prospectively Investigated from Birth

• Published in: The Journal of pediatrics 2012-11, Vol.161 (5), p.908-914.e2
• Main Authors: Lionetti, Elena, MD, PhD, Castellaneta, Stefania, MD, Pulvirenti, Alfredo, PhD, Tonutti, Elio, MD, Francavilla, Ruggiero, PhD, Fasano, Alessio, MD, PhD, Catassi, Carlo, MD, PhD
• Format: Article
• Language: English
• Subjects: Algorithms; antibodies; Biological and medical sciences; Biopsy; blood serum; breast feeding; celiac disease; Celiac Disease - diagnosis; Celiac Disease - epidemiology; Child, Preschool; children; decision support systems; diet; Epidemiology; Family Health; Female; females; General aspects; gluten; Glutens - metabolism; histology; HLA Antigens - metabolism; Humans; Immunoglobulin A - blood; Immunoglobulin G - blood; Infant; Infant, Newborn; infants; Male; Medical sciences; Miscellaneous; natural history; patients; Pediatrics; Pediatrics - methods; Phenotype; Prevalence; Prospective Studies; protein-glutamine gamma-glutamyltransferase; Public health. Hygiene; Public health. Hygiene-occupational medicine; Risk; Transglutaminases - blood
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2012.05.008

Objective To evaluate the frequency and the natural history of potential (serology positive/Marsh 0-1 histology) celiac disease (CD) in children with a family risk of CD and factors associated with potential instead of overt (serology positive/Marsh 2-3 histology) CD expression. Study design Two-year follow-up study of 96 children (57 females; mean age: 29 ± 12 months) prospectively investigated from birth with: (1) a CD-affected first-degree relative; (2) positivity of serum IgA anti-tissue transglutaminase (tTG) or IgG antigliadin and IgA deficiency; and (3) the results of small intestinal biopsy. Children with potential CD were advised to remain on a gluten containing diet, repeat the celiac antibodies every 6 months, and to have an intestinal biopsy performed in case of persistently high anti-tTG level. Factors discriminating between potential and overt CD were analyzed by decision tree analysis based on the C4.5 algorithm. Results Twenty-four children had potential and 72 overt CD. The stronger predictors of potential CD were lack of symptoms, anti-tTG level lower than 11-fold the upper normal limit, age lower than 24 months, and breastfeeding longer than 8 months. Eighteen out of 21 (86%) patients with potential CD continuing a gluten-containing diet became antibody negative, 1/21 (5%) developed overt CD, and 2/21 (9%) had fluctuating antibodies levels after 2 years. Conclusions The prevalence of potential CD and the percentage of short-term loss of CD-related-antibodies are high in infants at-family-risk for CD. In symptomless children with a positive celiac serology, the decision of performing an intestinal biopsy should be preceded by a period of repeated serological testing.