Metabolic syndrome (MS) and hepatic steatosis (HS) have been described in patients with celiac disease (CD) after starting a gluten-free diet (GFD), but data on predictive factors for these conditions are scarce. Recently, the patatin-like phospholipase domain-containing protein 3 (PNPLA3) rs738409 has been identified as a key factor for HS development in the general population. The aim of the study was to evaluate the role of PNPLA3 rs738409 in the development of MS and HS in CD patients after starting GFD. Between June 2014 and September 2016, we consecutively enrolled CD patients with HS, while those without steatosis served as a control group. All patients underwent anthropometric and serologic investigations, ultrasonography (US) to assess the degree and severity of HS, and genotyping of the PNPLA3 rs738409 polymorphism. Finally, 370 subjects were enrolled (136 with and 234 without HS). At genotyping assays, the CC genotype was found in 194 subjects (52.4%), the CG genotype in 138 subjects (37.3%), and the GG genotype in 38 subjects (10.2%). At binary logistic regression, only CG and GG alleles were predictive for the development of HS (odds ratio (OR) 1.97; p < 0.01 for CG and OR 6.9; p < 0.001 for GG). Body mass index (BMI) (OR 3.8; p < 0.001) and waist circumference (OR 2.8; p = 0.03) at CD diagnosis were the only independent factors for the development of MS. Intergroup comparisons showed that the severe grade of HS was more frequently observed in GG than in CC carriers (74% vs. 11.3%, p < 0.001, OR 21.8). PNPLA3 CG and GG carriers with CD have a higher susceptibility to hepatic steatosis, but not to metabolic syndrome. Moreover, patients with GG alleles display more severe forms of HS based on ultrasound.

Celiac disease (CD) is a multifactorial autoimmune enteropathy with a prevalence greater than 1% in the pediatric population. The only therapy for CD patients is a strict gluten-free diet (GFD). Gluten-free food contamination by other cereals during packaging and cooking or accidental ingestion of gluten may cause several intestinal and extraintestinal symptoms in CD patients. Therefore, the monitoring of gluten contamination in food and assessing the level of ingested gluten by analytical biomarkers has been of great interest in recent years. To this aim, small gluten immunogenic peptides (GIPs) obtained by the hydrolysis of gluten and present in urine and feces have been studied as biomarkers of gluten intake and to monitor adherence to GFD by CD patients. More recently, the use of circulating, fecal and urinary miRNAs has emerged as a novel diagnostic tool that can be potentially applied to assess adherence to GFD. Moreover, the presence of GIPs and miRNAs in both feces and urine suggests a similar excretion modality and the possibility of using urinary miRNAs, similarly to GIPs, as potential biomarkers of GFD in CD patients.

Background/Objectives: In Italy, the prevalence of celiac disease (CeD) among children exceeds 1.5% and has steadily increased with a linear trend over the past 25 years. The clinical presentation is heterogenous and a change in onset symptoms has been described in recent years. The aim of the study is to describe the pattern of clinical presentation of CeD during the last 12 years in a single Italian center. Methods: We retrospectively enrolled all children diagnosed with CeD at Bambino Gesù Children Hospital, Rome between 1 March 2011 and 22 June 2023. To investigate the changes in pattern of clinical presentation, we divided the patient population into three groups of approximately 4 years each (respectively: 49, 48 and 48 months). Patients who previously received a CeD diagnosis in other centers were excluded. Results: Overall, 4478 patients were diagnosed with CeD at our center. 1082 were excluded, leaving 3396 available for analysis. We divided the study cohort into three groups: group 1 (n = 909), group 2 (n = 1103), and group 3 (n = 1384). Diagnoses of CeD increased by 17.5%. The trend of the non-classic form shows a significative increase (p = 0.000064), showing a high prevalence of bloating and abdominal pain and a significant reduction in celiac crisis (p < 0.0001). Conclusions: Annual diagnoses of CeD increased during the study period, and the clinical presentation has changed in recent years, showing an increase in the non-classic form and a reduction in more severe forms of celiac crisis.

Background/Objectives: The efficacy of exclusive enteral nutrition (EEN) on the induction of remission of Crohn’s disease (CD) has been demonstrated with different diets (elemental, semi-elemental, and polymeric). A narrative review was conducted to assess the effects of different enteral diets in pediatric CD patients, considering the hypothesis that manipulating the nutritional key ingredients may enhance the clinical efficacy. Methods: An extensive literature search was performed across PubMed, Embase, and the Cochrane Library, covering all records published up to 27 July 2025. Both pediatric and adult studies were considered, and nutritional composition was compared with remission rates. Results: Twelve studies involving patients with active CD treated with EEN were found. Most studies were conducted with polymeric diets (n = 8), which achieved a high remission rate (up to 85%), thus confirming their advantage over other EEN diets. Conclusions: EEN with polymeric diets satisfies the need to revert the acute inflammation in most pediatric CD patients. Polymeric formulas have two advantages: (a) they contain transforming growth factor-β (TGF-β), which exerts anti-inflammatory effects on intestinal epithelial cells, and (b) they have a mixed-fat composition, including saturated fatty acids (SFAs), monounsaturated fatty acids (MUFAs), polyunsaturated fatty acids (PUFAs) as well medium-chain triglycerides (MCTs), which provides better results than EEN diets enriched with single-fat components. However, pathophysiological evidence shows gut microbiota alterations after EEN begins, despite clinical improvement. So, a potential strategy to enhance the efficacy of polymeric diets may be fiber enrichment.