Background: Celiac disease (CD) is a chronic immune-mediated systemic disorder induced by gluten in genetically predisposed individuals, requiring lifelong management through a strict gluten-free diet (GFD). Although its global prevalence is around 1%, awareness and diagnosis remain suboptimal, contributing to challenges in disease management. Objectives: To assess the awareness, knowledge, and experiences of Bulgarian CD patients and caregivers regarding CD, diagnosis, and dietary adherence. Methods: A structured survey was conducted to evaluate patient and caregiver knowledge, awareness, and experiences with CD, focusing on the diagnostic process and dietary practices. Data were collected from a sample of Bulgarian CD patients and their caregivers. Results: The majority of the 191 respondents (94%) recognized CD as a lifelong condition, but only 26.7% correctly identified its autoimmune, systemic nature. The average diagnostic delay was 8.1 months, with over 50% of patients relying on serological tests alone, consistent with recent non-biopsy guidelines. Dietary adherence was significantly hindered by misconceptions about gluten-containing grains and societal barriers. Notably, 83.6% of participants reported bringing their own food when eating outside. Conclusions: The findings underscore the need for targeted public health initiatives, enhanced healthcare provider training, and improved dietary education to address knowledge gaps, expedite diagnosis, and improve dietary adherence. Such interventions could help reduce the psychosocial burden of CD and enhance the quality of life for affected individuals.

Non-alcoholic fatty liver disease (NAFLD) is a multifactorial, highly prevalent liver disease in children. There is growing evidence that some genetic variants are associated with its development and rapid progression. The aim of this study was to assess the prevalence of specific single-nucleotide polymorphisms – PNPLA3 I148M, GCKR P446L, TM6SF2 E167K in Bulgarian children with NAFLD. We conducted a single-centre, prospective study of 32 children (22 patients with NAFLD and 10 healthy controls). Genetic testing and abdominal ultrasound were performed in all study participants. In the patients with NAFLD were additionally analyzed anthropometric parameters and standard biochemical tests, 10 of them underwent a liver biopsy for assessing disease activity and fibrosis. The most common polymorphism was GCKR P446L, detected in 75% of the studied population, followed by PNPLA3 I148M (50.0% of the studied population) and TM6SF2 E167K (9.4% of the studied population). The GCKRP446L gene variant was more common in patients with NAFLD than in healthy controls (86.4% vs. 50.0%, p = 0:03). Furthermore, significantly more patients with NAFLD were homozygous carriers of GCKR P446L compared to healthy controls (54.5% vs. 10.0%, p = 0:025). Both patients with histologically proven significant liver fibrosis were carriers of GCKR P446L. In the present study we found a high prevalence of GCKR P446L polymorphism among children with NAFLD, suggesting that this gene variant is associated with development of NAFLD in the Bulgarian pediatric population.

Background: Endoscopic evaluation is the gold standard for monitoring the disease activity in inflammatory bowel disease (IBD) but the procedure is invasive and not appropriate for frequent use, especially in the paediatric population. The aim of the present study was to assess the correlation between the levels of several inflammatory biomarkers and the degree of intestinal inflammation in paediatric patients with IBD. Materials and methods: A single center study including 31 children with ulcerative colitis (UC) and 22 children with Crohn’s disease (CD) with different disease duration and activity. All participants provided blood samples to measure the levels of white blood cell count, platelets, C-reactive protein, erythrocyte sedimentation rate, albumin and fibrinogen, and faecal samples for measurement of faecal calprotectin and faecal alpha-1 antitrypsin. All participants underwent endoscopic evaluation. Endoscopic disease activity was assessed according to the Mayo Endoscopic Subscore and Simple Endoscopic Score for Crohn‘s Disease in UC and CD patients, respectively. Results: 135 visits were included: 73 for UC patients and 62 for CD patients. In UC patients the strongest correlation was between the Mayo Endoscopic Subscore and the faecal calprotectin (r=0.867, p<0.001) followed by the albumin (r=0.523, p<0.001) and the C-reactive protein (r=0.487, p<0.001). In CD the strongest correlation was between the Simple Endoscopic Score for Crohn’s disease and the faecal calprotectin (r=0.872, p<0.001) followed by the C-reactive protein (0.708, p<0.001) and the erythrocyte sedimentation rate (0.605, p<0.001). Conclusions: The faecal calprotectin is a valuable surrogate marker of intestinal inflammation that is useful for monitoring of a disease activity in paediatric patients with IBD.