Gastrointestinal tract involvement in patients with potential celiac disease beyond the small intestine: An early proof with IgA anti-tissue transglutaminase-2 antibody deposits

Background: IgA anti-tissue transglutaminase-2 antibody (anti-TG2Ab) deposits in intestinal and extraintestinal organs have been used to link the respective pathological changes in these organs with celiac disease (CeD). Aims: To know if parts of intestine other than the duodenum, such as esophagus, stomach, and colon, have any pathology related to potential CeD or have mucosal IgA anti-TG2 Ab deposits. Settings and Design: A prospective case–control study conducted from April 2018 to December 2019. Materials and Methods: Nine patients with potential CeD and 27 age- and gender-matched patients with irritable bowel syndrome were recruited as cases and controls, respectively. Mucosal biopsies were collected from esophagus, stomach, duodenum, and rectosigmoid regions, histological changes were evaluated, and IgA anti-TG2 Ab deposits were analyzed in these regions by two-color immunohistochemical staining. Statistics: Data were analyzed using statistical software Stata 14.0. Results: No distinct difference in mucosal lymphocytosis were identified between biopsies of patients with potential CeD and controls at the following sites: esophagus (11.1% vs 0%, P = 0.079), stomach (14.3% vs 7.7%, P = 0.590), and rectum (20% vs 0%, P = 0.067). Co-localized IgA anti-TG2Ab deposits were observed more in potential CeD than in controls at esophagus 22.2% (2/9) vs 0%, P = 0.012; stomach 66.7% (6/9) vs 11.5% (3/26), P < 0.001; and duodenum 66.7% (6/9) vs 0%, P < 0.001 but not at rectum 0% (0/4) vs 0% (0/25). Conclusion: Although histological changes are not distinct, a subset of subjects with potential CeD has pan-intestinal involvement other than in the duodenum.

Enfermedad celíaca en niños con síndrome de Down / Celiac disease in children with Down syndrome

INTRODUCCIÓN: La enfermedad celíaca (EC) en niños con síndrome de Down (SD) ha sido publicada por varios paí ses, sin que existan datos para Colombia. OBJETIVO: Determinar la frecuencia y factores relacionados de EC en niños con SD, comparado con un grupo de niños sin SD, analizando las manifestaciones clínicas, inmunológicas y genéticas. PACIENTES Y MÉTODO: Fueron estudiados 209 niños, 1-18 años de edad (8,4 ± 4,1 años; 55,5% sexo femenino): 97 con SD y 112 sin SD usando como marcador serológico los anticuerpos anti-transglutaminasa (tTG2); se estudiaron variables de edad, genero, raza, ori gen, peso, talla y síntomas digestivos. A los niños con tTG2 positivos, se les realizó biopsia duodenal y genotipo. Se estimó la proporción de niños con SD, sin SD y EC y su IC95%; medidas de tendencia central, análisis univariado y bivariado, siendo significativa una p < 0,05. RESULTADOS: Ocho niños con SD (8,2%) y 5 niños sin SD (4,5%) fueron tTG2 positivos (p = 0,200). Ninguno presentó deficiencia de IgA sérica. Un niño con SD presentó EC con Marsh II (1,0%); y 2 niños con SD (2,1%) y 2 sin SD (1,8%), presentaron EC potencial (p = 0,432). Tres niños fueron HLA-DQ2. Hubo mayor opor tunidad de presentar EC en el grupo de pre-escolares (OR = 6,14 IC95% = 0,41-87,35 p = 0,0462). CONCLUSIONES: La frecuencia de EC por biopsia intestinal en estos niños con SD es muy inferior a lo relatado en la literatura, estando asociada al pre-escolar, y siendo su principal alelo el DQ2, hallazgos similares a lo descrito a nivel mundial.

INTRODUCTION: Celiac disease (CD) in children with Down syndrome (DS) has been published by several countries, without available data for Colombia. OBJECTIVE: To determine the frequency and related factors of CD in children with DS, compared with a group of children without DS, analyzing the clinical, im munological, and genetic manifestations. PATIENTS AND METHOD: A total of 209 children between 1-18 years of age (8.4 ± 4.1 years, 55.5% female) were studied, 97 with DS and 112 without DS, using anti-transglutaminase antibodies as serological marker (tTG2). Variables of age, gender, race, ori gin, weight, height, and digestive symptoms were studied. Children with positive tTG2 underwent duodenal biopsy and genotype. The proportion of children with DS, without DS, and CD was esti mated and their 95% CI; measures of central tendency, univariate and bivariate analysis, considering a p < 0.05 significant. RESULTS: Eight children with DS (8.2%) and five children without DS (4.5%) were tTG2 positive (p = 0.200). None presented serum IgA deficiency. One child with DS presented CD with Marsh II (1.0%), and two children with DS (2.1%) and two without DS (1.8%), presen ted potential CD (p = 0.432). Three children were HLA-DQ2. CD was more likely in the preschool group (OR = 6.14 95%CI = 0.41-87.35 p = 0.0462). CONCLUSIONS: The CD frequency due to intestinal biopsy in children with DS is much lower than that reported in the literature, being associated with preschool, and having DQ2 as its main allele. These findings are similar to those described worldwide.

Prevalence of markers of celiac disease in Colombian children with diabetes mellitus type 1 / Prevalencia de marcadores de enfermedad celíaca en niños Colombianos con diabetes mellitus tipo 1

Abstract Introduction: Although the association between diabetes mellitus type 1 (T1DM) and celiac disease (CD) is well established; there are only a few studies that focus on South American children, haplotypes and their possible associations. Objective: To determine the prevalence of CD markers in a group of children with T1DM and to analyze the associated clinical, immunological and genetic manifestations. Methods: A prevalence study focusing on children with T1DM who were assessed based on variables including sociodemographics, anthropometric information, disease characteristics, laboratory results and family medical history. In partitipants a positive tTG2 (Ig A anti-transglutaminase), a duodenal biopsy and genotype were performed. The proportion of children with T1DM and CD was estimated (CI 95%). Determinations of central tendency, univariate and bivariate analysis, were also performed; p <0.05 was considered significant. Results: Thirteen (8.4%) of the 155 children (53.6% girls, 11.0 ±3.6 years, 2-18 years) with T1DM were tTG2 positive, four had CD (2.6%), seven had potential CD (4.5%) and nine were HLA DQ2/DQ8 positive (5.8%). Children with T1DM and CD had their last ketoacidotic episode (21.5 ±30.4 months versus 69.5 ±38.8 months, p= 0.0260) earlier than children with T1DM and potential CD. There were no differences with anthropometry or with the laboratory results regarding glycemic control. Conclusions: The prevalence of CD in these children with T1DM is higher than that reported in other South American countries. The prevalence of CD was found to be associated with the time of presentation of T1DM and its main allele, the DQ2/DQ8. These findings are different from what has been described in other places around the world.

Resumen Introducción: A pesar que la asociación entre diabetes mellitus tipo 1 (DMT1) y enfermedad celíaca (EC) está bien establecida; hay pocos estudios en niños suramericanos sobre haplotipos y sus posibles asociaciones. Objetivo: Determinar la prevalencia de marcadores de EC en un grupo de niños con DMT1, analizando las manifestaciones clínicas, inmunológicas y genéticas. Métodos: Estudio de prevalencia en niños con DMT1 a quienes se les tomaron variables sociodemográficas, antropométricas, de la enfermedad, paraclínicas y familiares metabólicas. A los niños con IgA anti-transglutaminasa (tTG2) positivos, se les realizó biopsia duodenal y genotipo. Se estimó la proporción de niños con DMT1 y EC y su IC 95%; medidas de tendencia central, análisis univariado y bivariado, siendo significativa una p <0.05. Resultados: Trece (8.4%) de los 155 niños (53.6% niñas, de 11.0 ±3.6 años, 2-18 años) con DMT1 fueron tTG2 positivos, cuatro presentaron EC (2.6%), siete EC potencial (4.5%) y nueve HLA DQ2/DQ8 (5.8%). Los niños con DMT1 y EC presentaron más pronto su último episodio cetoacidótico (21.5 ±30.4 meses versus 69.5 ±38.8 meses, p= 0.0260) que los niños con DMT1 y EC potencial. No hubo diferencias con la antropometría ni con los paraclínicos del control glicémico. Conclusiones: La prevalencia de EC en estos niños con DMT1 es superior a la de otros países suramericanos; estando asociada al tiempo de presentación de la DMT1 y su principal alelo el DQ2/DQ8, hallazgos diferentes a lo descrito a nivel mundial.