Abstract
Background: The long-term outcome of potential celiac disease (CD) is still a debated issue. We aimed to evaluate the progression of potential CD versus overt CD after 10-years of follow-up in a cohort of children genetically predisposed to CD. Methods: The CELIPREV study is prospectively following from birth 553 children with CD-predisposing HLA genes. Children with a diagnosis of potential CD continued to receive a normal diet and repeated the serological screening for CD every year. An intestinal biopsy was taken in presence of persistent positive serology. Results: Overall, 26 (4.7%) children received a diagnosis of potential CD (50% females, median age 24 months). All children were symptom-free. Twenty-three children continued a gluten-containing diet; at 10 years from the first biopsy, three children developed overt CD (13%), 19 (83%) became antibodies negative at 1 year from the first biopsy and remained negative up to 10 years of follow-up and one subject (4%) had fluctuating antibody course with transiently negative values and persistently negative biopsy. Conclusions: In children genetically predisposed to CD with a diagnosis of potential CD the risk of progression to overt CD while on a gluten-containing diet is very low in the long-term.
Highlights
Celiac disease (CD) is a systemic immune-mediated disorder caused by the ingestion of gluten-containing grains in genetically susceptible persons [1]
For the purpose of the present study, we focused on the sub-group of children with a diagnosis of potential celiac disease (CD) defined in the presence of: (a) a CD compatible HLA genotype; (b) a Marsh 0–1 lesion at the biopsy; and c) IgA TGA2 and EMA positivity or IgG TGA2 positivity in presence of IgA deficiency (IgA < 5 mg per decilitre)
We previously showed that in this group of children the prevalence of potential CD is high [2,3] and its management is still controversial: (a) the observation that CD autoimmunity may spontaneously normalize in children with potential CD while on a gluten-containing diet would suggest caution before starting a GFD for life without a conclusive proof of a gluten-induced disease [3,11]; (b) potential CD may be the first step of the disease, that would be overly manifested later in time and starting a GFD as soon as possible may prevent the risk of an underling disease in the long run [12]
Summary
Celiac disease (CD) is a systemic immune-mediated disorder caused by the ingestion of gluten-containing grains in genetically susceptible persons [1]. Potential CD is characterized by the presence of anti-transglutaminase (TGA2) and anti-endomysium (EMA) antibodies, with compatible HLA and without duodenal villous atrophy [7]. These patients may or may not have symptoms and signs of the disease and may or may not develop an overt CD with villous atrophy later on. We aimed to evaluate the progression of potential CD versus overt CD after 10-years of follow-up in a cohort of children genetically predisposed to CD. Conclusions: In children genetically predisposed to CD with a diagnosis of potential CD the risk of progression to overt CD while on a gluten-containing diet is very low in the long-term
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