Prevalence and natural history of potential celiac disease in at-family-risk infants prospectively investigated from birth.
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.


METHODS
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.
Department of Pediatrics, University of Catania, Italy.
Elena
E
Lionetti
Stefania
S
Castellaneta
Alfredo
A
Pulvirenti
Elio
E
Tonutti
Ruggiero
R
Francavilla
Alessio
A
Fasano
Carlo
C
Catassi
D000465:Algorithms; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000453:epidemiology*; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005983:Glutens / Q000378:metabolism; D006680:HLA Antigens / Q000378:metabolism; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010372:Pediatrics / Q000379:methods; D010641:Phenotype; D015995:Prevalence; D011446:Prospective Studies; D012306:Risk; D011503:Transglutaminases / Q000097:blood
D006680:HLA Antigens; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D005983:Glutens; D011503:Transglutaminases