Screening for celiac disease in patients with irritable bowel syndrome fulfilling Rome III criteria

Background: Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. Celiac disease (CD), a treatable autoimmune enteropathy, with varied presentations, may simulate clinically symptoms of IBS. The aim of the present study is to screen for CD in patients with IBS diagnosed based on the Rome III criteria. Patients and Methods: A cross-sectional study was conducted at a secondary care gastrointestinal unit in Al-Salam General Hospital in Mosul city, Iraq, from November 2015 to October 2016. All patients fulfilling the Rome III criteria for IBS were screened for CD using antitissue transglutaminase IgA antibodies (anti-tTG). Patients who tested positive were subjected to endoscopic duodenal biopsy to confirm the diagnosis of CD. Results: A total of 100 patients were included in the present study (58 female and 42 male), the mean age of the participants was 40.8 years old (standard deviation [SD]±11.57). Ten patients (10/100, 10%) tested positive for anti-tTG antibodies. Five of the seropositive patients (5/10, 50%) showed positive biopsy results according to the Marsh classification, 3 of whom having diarrhea, and 2 with constipation. Conclusion: Positive serology and biopsy results suggestive of CDare common among patients with IBS. Screening patients with IBS for CD is justified. (AU)

Dermatitis herpetiforme y enfermedad celíaca: del intestino a la piel / Dermatitis herpetiformis and celiac disease

Dermatitis herpetiformis is an autoimmune chronic blistering disease, considered a skin manifestation of celiac disease. Being both conditions multifactorial, they share some genetic traits and pathogenic mechanisms, which are responsible for the typical skin and gastrointestinal manifestations. In dermatitis herpetiformis, skin and other lesions heal after gluten-free diet and reappear shortly after its reintroduction to complete diet. Prevalence of celiac disease is 1% in the population, and approximately 13% of patients with the disease develop dermatitis herpetiformis. Diagnosis of celiac disease has progressively increased in recent decades, while clinical manifestations become more and more diverse. Given the current high frequency of skin lesions in celiac patients, in this review we update relevant aspects of the epidemiology, pathogenesis, clinical presentations, treatment and follow up of dermatitis herpetiformis, as a contribution to improve the management of both conditions.

Doença celíaca soronegativa em pacientes brasileiros: uma série de casos / Seronegative celiac disease in brazilian patients: a series of cases

ABSTRACT BACKGROUND: Celiac disease (CD) is an autoimmune disease characterized by immune reaction mostly to wheat gluten. The diagnosis is based on clinical, serological and histological findings in patients ingesting gluten. Cases that the clinical profile indicates CD and the autoantibodies are negative bring so a dilemma for the professional, as the risk of missed the diagnosis or a delay at the same. OBJECTIVE: To show the importance of correct diagnosis of cases with seronegative celiac disease (SNCD). METHODS: Ten cases of SNCD Brazilian patients were retrospectively studied (2013 to 2019). Data of clinical complaints, autoantibodies, IgA serum levels, histological findings and HLA-DQ2/DQ-8 were compiled. Dual-X densitometry, delay at diagnosis, previous autoimmune diseases and family history of CD were also checked. RESULTS: All SNCD patients presented clinical symptoms of CD, with confirmed diagnosis by histological findings of the duodenal mucosa and HLA-DQ2 and/or HLA-DQ8 positivity. All patients had normal IgA levels and negative autoantibodies (IgA-anti-transglutaminase and anti-endomysial). Dual-X densitometry detected osteopenia in two women and osteoporosis in two males, all with low levels of vitamin D. Delay diagnostic ranged from 1 to 19 years. Familiar occurrence of CD was reported in 40% of the cases. After one year of gluten-free diet, eight patients refer improve of symptoms, while duodenal biopsies, done in five cases, showed histological improvement. CONCLUSION: Patients who demonstrate the clinical profile of celiac disease with negative serology and normal levels of IgA, especially those who have family members with celiac disease, should be submitted to duodenal biopsies to look for histological findings.

RESUMO CONTEXTO: A doença celíaca (DC) é uma doença autoimune caracterizada por reação imune principalmente ao glúten do trigo. O diagnóstico é baseado em achados clínicos, sorológicos e histológicos em pacientes que ingerem glúten. Casos em que o perfil clínico indica DC e os autoanticorpos são negativos trazem um dilema para o profissional, como o risco de não realizar ou atrasar o diagnóstico da DC. OBJETIVO: Mostrar a importância do diagnóstico correto de casos com doença celíaca soronegativa (DCSN). MÉTODOS: Dez casos de pacientes brasileiros com DCSN foram estudados retrospectivamente (2013 a 2019). Foram compilados dados de queixas clínicas, autoanticorpos, níveis séricos de IgA, achados histológicos e HLA-DQ2 / DQ-8. Densitometria, atraso no diagnóstico, doenças autoimunes prévias e histórico familiar de DC também foram verificados. RESULTADOS: Todos os pacientes com DCSN apresentaram sintomas clínicos de DC, com diagnóstico confirmado por achados histológicos da mucosa duodenal e positividade para HLA-DQ2 e/ou HLA-DQ8. Todos os pacientes apresentavam níveis normais de IgA e autoanticorpos negativos (IgA-anti-transglutaminase e anti-endomisial). A densitometria detectou osteopenia em duas mulheres e osteoporose em dois homens, todos com baixos níveis de vitamina D. O atraso no diagnóstico variou de 1 a 19 anos. A ocorrência familiar de DC foi relatada em 40% dos casos. Após 1 ano de dieta isenta em glúten, oito pacientes referem melhora dos sintomas, enquanto as biópsias duodenais, realizadas em cinco casos, mostraram melhora histológica. CONCLUSÃO: Pacientes que apresentam quadro clínico de doença celíaca com sorologia negativa e níveis normais de IgA, principalmente aqueles que possuem familiares com doença celíaca, devem ser submetidos à biópsia duodenal para pesquisa de achados histológicos.

Uma melhor adesão às diretrizes da ESPGHAN é necessária para o diagnóstico da doença celíaca em crianças: uma experiência de um único centro / Improved adherence to the espghan guidelines is necessary for diagnosing celiac disease in children: a single-center experience

ABSTRACT BACKGROUND: Celiac disease (CD) is an immune-mediated systemic disorder elicited by the ingestion of gluten. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines published in 2012 suggested a no-biopsy pathway (NBP) for symptomatic children with IgA tissue transglutaminase (TGA-IgA) ≥10x upper limit of normal (ULN). Biopsy confirmation remained mandatory for other cases. OBJECTIVE: This retrospective case note study was aimed at evaluating the adherence to the ESPGHAN 2012 guidelines for diagnosing CD in our unit. METHODS: Forty-three cases with positive TGA-IgA were identified by a laboratory database search from January 2013 to December 2019. 6 of 43 patients were not referred for a confirmation of CD diagnosis. Data was collected on the diagnostic pathways followed, and appropriateness of adherence was compared with the existing ESPGHAN guidelines. RESULTS: A total of 37 cases were included with 35 children diagnosed with CD. 29/35 (83%) were diagnosed via the NBP;15/29 (52%) children did not meet all the criteria required for NBP, but were diagnosed and managed as having CD. 20/35 (57%) children were diagnosed with CD in adherence to the 2012 guidelines. CONCLUSION: The recommended diagnostic guidelines were frequently not implemented; adherence to the guidelines may improve following regular educational sessions. The revised 2020 ESPGHAN guidelines which exclude HLA-DQ2/DQ8 testing would address the issue of diagnosis for the 10/15 NBP cases (with TGA-IgA >10xULN) in our study who did not have HLA testing and were therefore non-adherent to the 2012 diagnostic guidelines. NBP, with the reduced need for endoscopy may be beneficial in resource limited settings.

RESUMO CONTEXTO: A doença celíaca (DC) é uma doença sistêmica imuno-mediada provocada pela ingestão de glúten. As diretrizes da Sociedade Europeia de Gastroenterologia Pediátrica, Hepatologia e Nutrição (ESPGHAN) publicadas em 2012 sugeriram uma via sem biópsia (VSB) para crianças sintomáticas com transglutaminase de tecido IgA (TGA-IgA) ≥10x limite superior do normal (LSN). A confirmação da biópsia permaneceu obrigatória para outros casos. OBJETIVO: Este estudo retrospectivo de dados de caso teve como objetivo avaliar a adesão às diretrizes da ESPGHAN 2012 para o diagnóstico de DC em nossa unidade. MÉTODOS: Quarenta e três casos com TGA-IgA positivo foram identificados por uma pesquisa laboratorial de banco de dados de janeiro de 2013 a dezembro de 2019. Seis de 43 pacientes não foram encaminhados para confirmação do diagnóstico de DC. Os dados foram coletados nas vias diagnósticas seguidas, e a adequação da adesão foi comparada com as diretrizes ESPGHAN existentes. RESULTADOS: Foram incluídos 37 casos com 35 crianças diagnosticadas com DC. Foram diagnosticados 29 (83%) de 35 VSB; 15 (52%) de 29 crianças não atenderam a todos os critérios exigidos para a VSB, mas foram diagnosticadas e gerenciadas como tendo DC. Vinte (57%) em 35 foram diagnosticadas com DC em adesão às diretrizes de 2012. CONCLUSÃO: As diretrizes diagnósticas recomendadas não foram frequentemente implementadas; a adesão às diretrizes pode melhorar após sessões educativas regulares. As diretrizes revisadas ESPGHAN de 2020 que excluem os testes HLA-DQ2/DQ8 abordariam a questão do diagnóstico para 10 em 15 casos VSB (com TGA-IgA >10x LSN) em nosso estudo os quais não fizeram testes de HLA e, portanto, não aderiram às diretrizes de diagnóstico de 2012. A VSB, com a necessidade reduzida de endoscopia, pode ser benéfica em configurações limitadas de recursos.

Refractory celiac disease type 2: how to diagnose and treat?

SUMMARY Refractory celiac disease is an uncommon condition which might be associated to poor prognosis. It is often treated with immunosuppressive medications, with poor results. It is divided in type 1 and type 2, the latter carrying a high risk for lymphoma and mortality. A case of a 41 year old female patient with refractory celiac disease type 2 is reported. She was treated with oral budesonide for six months, achieving histological remission.

Fragilidades no cuidado em saúde às pessoas com desordens relacionadas ao glúten / Weaknesses in healthcare for persons with gluten-related disorders / Fragilidades en el cuidado de salud de personas con desórdenes relacionados al gluten

As desordens relacionadas ao glúten (DRG) afetam de 1% a 6% da população, com complicações e alto risco de morbimortalidade em curto e longo prazos. Desde 2009, o Brasil possui um Protocolo Clínico de Diretrizes Terapêuticas para a Doença Celíaca, entretanto, são comuns as queixas das pessoas com DRG a respeito da falta de conhecimento dos profissionais de saúde nessa temática e das dificuldades relacionadas ao cuidado em saúde em relação tanto ao diagnóstico quanto ao tratamento. Este estudo objetivou compreender as fragilidades no cuidado em saúde percebidas por pessoas com DRG. Foi realizada uma pesquisa qualitativa virtual no grupo Viva Sem Glúten (VSG), da rede social Facebook, na qual foram consultados os registros armazenados no grupo por 65 meses, que totalizaram 510 postagens e seus respectivos comentários. Os dados foram agrupados em categorias, e foi realizada análise temática de conteúdo, adotando-se os referenciais teóricos sobre o cuidado em saúde. A análise revelou que as buscas por um diagnóstico e por tratamento adequado frequentemente são descritas como uma peregrinação, sendo decorrentes das fragilidades no cuidado em saúde, traduzidas pela falta de conhecimento atualizado dos profissionais sobre as DRG e por problemas na relação profissional-paciente. As fragilidades no cuidado em saúde e os diagnósticos tardios contribuem para aumentar o risco de complicações e óbitos. Nesse contexto, o grupo VSG se destaca em seu papel de grupo de apoio e rede de solidariedade, favorecendo o esclarecimento e o empoderamento de inúmeras pessoas com DRG.

Gluten-related disorders affect 1% to 6% of the population, with complications and high risk of short and long-term morbidity and mortality. Since 2009, Brazil has a Clinical Protocol of Therapeutic Guidelines for Celiac Disease, but there are frequent complaints by persons with gluten-related disorders concerning the lack of healthcare professionals' knowledge of this topic and the difficulties related to healthcare, for both diagnosis and treatment. This study aimed to understand the weaknesses in healthcare perceived by persons with gluten-related disorders. An online qualitative survey was conducted in the Living Without Gluten group on Facebook, consulting the records saved by the group for 65 months, which totaled 510 posts and the respective comments. The data were grouped in categories, and thematic content analysis was performed, adopting the theoretical references on healthcare. The analysis revealed that the searches for diagnosis and adequate treatment were often described as a forced pilgrimage, resulting from shortcomings in healthcare, including lack of up-to-date knowledge on gluten-related disorders among the healthcare professionals and problems in the physician-patient relationship. Weaknesses in patient care and late diagnoses contribute to increasing the risk of complications and deaths. In this context, the Living Without Gluten group plays a leading role as a support group and network of solidarity, favoring increased awareness and empowerment of numerous Brazilians with gluten-related disorders.

Los desórdenes relacionados al gluten afectan de 1% a 6% de la población, con complicaciones y alto riesgo de morbimortalidad en corto y largo plazos. Desde 2009, Brasil posee un Protocolo Clínico de Directrices Terapéuticas para la Enfermedad Celíaca, sin embargo, son comunes las quejas de las personas con desórdenes relacionados al gluten, respecto a la falta de conocimiento de los profesionales de salud en esa temática y las dificultades relacionadas con el cuidado en salud, en relación tanto con el diagnóstico como con el tratamiento. Este estudio se marcó como objetivo comprender las fragilidades en el cuidado en salud percibidas por personas con desórdenes relacionados al gluten. Se realizó una investigación cualitativa virtual en el grupo Vivir Sin Gluten (VSG) de la red social Facebook, en la que se consultaron los registros almacenados en el grupo durante 65 meses, que totalizaron 510 posts y sus respectivos comentarios. Los datos se agruparon en categorías y se realizó un análisis temático de contenido, adoptándose los referenciales teóricos sobre el cuidado en salud. El análisis reveló que las búsquedas de un diagnóstico y tratamiento adecuado frecuentemente se describen como una peregrinación, siendo derivados de las fragilidades en el cuidado en salud, traducidas por la falta de conocimiento actualizado de los profesionales sobre las desórdenes relacionados al gluten y por problemas en la relación profesional-paciente. Las fragilidades en el cuidado en salud y los diagnósticos tardíos contribuyen a aumentar el riesgo de complicaciones y óbitos. En este contexto el grupo VSG se destaca en su papel de grupo de apoyo y red de solidaridad, favoreciendo la información y el empoderamiento de innumerables personas con desórdenes relacionados al gluten.

Invaginación intestinal como signo guía de enfermedad celíaca. Un caso clínico pediátrico / Intestinal intussusception as a key sign of Celiac Disease. A pediatric case report

La invaginación intestinal es la causa más frecuente de obstrucción intestinal entre los 6 y los 36 meses de edad. La mayoría son idiopáticas. Se ha descrito la asociación entre la enfermedad celíaca y la invaginación intestinal en la población pediátrica. Se presenta el caso de un varón de 23 meses ingresado por estancamiento ponderal en cuyo estudio ecográfico se observaron invaginaciones íleo-ileales asintomáticas repetidas.

Intestinal intussusception is the most frequent cause of intestinal obstruction between 6 and 36 months of age, the majority being idiopathic. The association between celiac disease and intestinal intussusception in the pediatric population has been described. We present the case of a 23-month-old male admitted due to a failure to thrive. In his ultrasound study recurrent asymptomatic ileo-ileal invaginations were found

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.

Insuficiencias metodológicas lastran el diagnóstico de la enfermedad celiaca / Methodological shortage hampers the diagnostic of celiac disease

Introducción: La enfermedad celiaca es el resultado de una sensibilidad permanente al gluten. Puede conducir principalmente a trastornos intestinales. Cuatro criterios son utilizados para el diagnóstico de esta enfermedad: clínicos, histológicos, serológicos y moleculares. La insuficiente utilización de estos criterios conduce a falsos diagnósticos de dicha enfermedad. Objetivo: Demostrar la existencia de falsos diagnósticos de enfermedad celiaca cuando no se utilizan las herramientas necesarias para ello. Métodos: Se estudiaron 46 niños que fueron remitidos al Servicio de Genética Molecular del Hospital Hermanos Ameijeiras con diagnóstico de enfermedad celiaca basado en criterios clínicos e histopatológicos. Para completar los procederes diagnósticos, a cada paciente se le determinó anticuerpos antitransglutaminasa previa ingesta de gluten, y los alelos HLA DQ2 y HLA DQ8. Se consideraron pacientes con enfermedad celiaca aquellos casos que cumplieron los cuatro criterios. Resultados: De los 46 pacientes, trece (28,3 por ciento) fueron negativos a los alelos HLA DQ2/HLA DQ8, lo que niega estén padeciendo de enfermedad celiaca; ocho (17,39 por ciento) fueron positivos a los alelos HLA y negativos a la presencia de anticuerpos, lo que también niega la enfermedad. Es decir, 21 (45,7 por ciento) eran falsos diagnósticos de enfermedad celiaca. Los 25 (54,3 por ciento) restantes, además de los criterios con que fueron remitidos, cumplieron los serológicos (positividad a anticuerpos antitransglutaminasa) y moleculares (positividad para moléculas HLA DQ2/HLADQ8). Conclusiones: Para un diagnóstico de certeza de enfermedad celiaca es necesario, además de las herramientas clínicas e histopatológicas utilizadas en la red de hospitales pediátricos del país, el uso de procederes serológicos y moleculares(AU)

Introduction: Celiac disease is a caused by a permanent sensitivity to gluten, which results mainly in functional disorders of the small intestine. To successfully diagnose of celiac disease, it is necessary to properly convey four criteria: clinic, histological, serological and molecular. The insufficient utilization of them in the medical practice could conduce to false diagnosis of celiac disease. Objective: To demonstrate the occurrence of mistaken diagnoses of celiac disease when the four criteria are not properly addressed. Methods: Forty-six children were diagnosed with celiac disease based on clinical and histopathological criteria and remitted to the Hermanos Ameijeiras Hospital´s Molecular Genetics service. In order to complete the serological and molecular diagnosis procedure, there were detected antitransglutaminase antibodies after gluten ingestion, and HLA DQ2/HLA DQ8 alleles in every child. Individuals who met the four criteria were considered celiac disease patients. Results: The analysis of 46 patients showed that 13 (28.3 percent) where negative to the presence of both allele HLA DQ2/HLA DQ8, and hence negative for celiac disease diagnosis. Eight patients (17.39 percent) where HLA DQ2/HLA DQ8 positive and antitransglutaminase antibodies negative, so they were considered as negative for diagnosis of celiac disease. According to our results, 21 patients (45.7 percent) were mistakenly diagnosed. The remaining 25 patients (54.3 percent) where positive for all diagnosis criteria. Conclusions: In order to successfully diagnose of celiac disease, in addition to clinical and histopathological tools used in the network of pediatrics hospitals in the country, it is necessary to include the serological and molecular method(AU)

Caracterización de la enfermedad celiaca en niños atendidos en hospitales públicos chilenos / Characterization of celiac disease in chilean public hospitals

Resumen: Introducción: La prevalencia global de enfermedad celíaca (EC) es ~1% de la población. En Chile, la Encuesta Nacional de Salud 2009-2010 mostró una prevalencia serológica en mayores de 15 años de 0,76% (IgA-TTG2), que en Concepción correspondió a 0,6%. Objetivo: Determinar las caracte rísticas clínicas, de búsqueda, diagnóstico, tratamiento y seguimiento de la EC en los dos hospitales públicos de Concepción con servicio de Gastroenterología. Pacientes y Método: Estudio descriptivo, se recogieron datos de las fichas electrónicas (código CIE10) y clínicas de menores de 18 años estu diados por EC entre 2010 - 2016 provenientes de dos hospitales públicos de la ciudad de Concepción, Chile. Se identificaron los casos cuyo protocolo diagnóstico cumplía con los criterios ESPGHAN 2012 (confirmación con biopsia intestinal), 207 de 216 pacientes identificados cumplían los criterios de inclusión. El estado nutricional se clasificó según grupo etario (menores de 5 años OMS 2006; en los niños entre 5 y 18 años OMS 2007). Se calculó el Z-score (Z), a través del software WHO Anthro (en menores de 5 años) y WHO Anthro Plus (entre 5-18 años). Los anticuerpos antiendomisio se evaluaron mediante inmuno fluorescencia en cortes de esófago de mono; los anticuerpos antitrans- glutaminasa IgA e IgG a través ELISA; e IgA en sangre mediante ELISA. Resultados: Se confirmó EC por biopsias duodenales en 33,8%. IgA-TTG estuvo registrada en 70% e IgG-TTG en 52,9%, aunque solo dos pacientes tenían deficiencia de IgA. Los motivos de consulta preponderantes fueron gas trointestinales (80%) y/o derivación por un endocrinólogo (45,7%). La principal presentación clínica fue gastrointestinal, con diarrea (71,4%). El 17,1% presentaba Síndrome de Down (SD), 11,4% talla baja y 5,7% diabetes mellitus 1. Al diagnóstico, la relación obesidad: desnutrición (Z-score IMC) fue 2:1 y 6,8% de los pacientes eran obesos. Al año post-diagnóstico, en 26 pacientes celíacos sin SD la frecuencia de estado nutricional eutrófico disminuyó de 65,4% a 42,3%, aumentando el sobrepeso de 23,1 a 34,6% y la obesidad de 0 a 7,7%. Conclusiones: En Concepción, la especialidad de endo crinología efectúa una significativa y exitosa búsqueda activa, siendo responsable de 47,3% de los diagnósticos. La alta proporción de pacientes con sobrepeso/obesidad concuerda con el fenómeno descrito actualmente en Chile y otros países.

Abstract: Introduction: The worldwide prevalence of celiac disease (CD) is ~1% of the population. In Chile, the National Health Survey 2009-2010 showed a serological prevalence in individuals older than 15 years of 0.76% (IgA-tTG2), which corresponded in Concepción to 0.6%. Objective: Determine cli nical characteristics, search, diagnosis, treatment and follow-up of CD in the two public hospitals in Concepción that have a Gastroenterology Department. Patients and Method: Descriptive study. Data were collected from electronic medical records (CIE10 code) and medical records of patients youn ger than 18 years of age, assessed for CD during 2010 - 2016 from two public hospitals in the city of Concepción, Chile. Cases whose diagnostic protocol met the ESPGHAN 2012 criteria (confirmation with intestinal biopsy), 207 out of 216 identified patients met the inclusion criteria. The nutritional status was classified according to age group (in children under five years old by WHO 2006 and in children between five and 18 years old by WHO 2007). The Z-score (Z) was calculated using the WHO Anthro software (in children under five years old) and WHO Anthro Plus software (in those between five and 18 years old). Antiendomysial antibodies were assessed by immunofluorescence test in cuts of the esophagus of mono, IgA and IgG anti-transglutaminase antibodies via ELISA, as well as serum IgA. Results: CD was confirmed by duodenal biopsies in 33.8% of the patients. IgA-tTG was identified in 70% and IgG-tTG in 52.9%, although only two patients had IgA deficiency. The main reasons for consultation were gastrointestinal (80%) and/or referral by an endocrinologist (45.7%). The main clinical presentation was gastrointestinal, with diarrhea (71.4%). 17.1% of the patients had Down syndrome (DS), 11.4% short stature, and 5.7% had type 1 diabetes mellitus. At diagnosis, the obesitymalnutrition ratio (Z-score BMI) was 2:1 and 6.8% of the patients were obese. One year after diagnosis, in 26 patients without DS, the frequency of eutrophic patients decreased from 65.4% to 42.3%, increasing overweight from 23.1% to 34.6% and obesity from 0 to 7.7%. Conclusions: In Con cepción, endocrinologists conduct a significant and successful active search of CD, being responsible for 47.3% of the diagnoses. The high proportion of overweight/obese patients is consistent with the phenomenon currently described in Chile and other countries.

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.

Síndrome diencefálico en un niño con desnutrición crónica e hiperactividad / Diencephalic syndrome in a child with chronic malnutrition and hyperactivity

El síndrome diencefálico es una causa infrecuente de desnutrición. Se produce por la disfunción del hipotálamo y está asociado a tumores del encéfalo. Los pacientes presentan una grave y progresiva pérdida de peso, aunque el apetito y la ingesta calórica son, por lo general, adecuados. Característicamente, los síntomas neurológicos son tardíos, lo que retrasa la sospecha diagnóstica. Se presenta a un paciente de 2 años y 6 meses de edad con desnutrición crónica grado II, derivado con diagnóstico presuntivo de enfermedad celíaca con mala adherencia y fracaso del tratamiento. Durante la internación, se arribó al diagnóstico de síndrome diencefálico secundario a un astrocitoma pilocítico grado I.

Diencephalic syndrome is an infrequent cause of malnutrition. It is produced by a malfunctioning hypothalamus, and it is related to encephalic tumors. Patients present a serious and progressive weight loss although the appetite and calorie intake are, usually, adequate. Neurological symptoms typically have a late appearance, delaying diagnostic suspicion. We present a patient aged 2 years and a half with grade II chronic malnutrition, referred with presumptive diagnosis of celiac disease, with poor adherence and treatment failure. During hospitalization, diagnosis of diencephalic syndrome secondary to grade I pilocytic astrocytoma was reached.

Celiac Crisis: an unusual presentation of gluten-sensitive enteropathy

Celiac disease (CD)­also known as gluten-sensitive enteropathy­is a chronic, genetically predisposing and autoimmune entity with a wide range of clinical manifestations triggered by gluten ingestion, which affects 1% of the general population. Currently, up to 60% of the diagnosis of CD is in adults due to the atypical course of the disease. The severe acute onset of CD­also called celiac crisis­is very uncommon and is still not well documented in adults. We report the case of a 58-year-old man who presented a 45-day history of subtle-onset diarrhea followed by malabsorption syndrome with progressive weight loss, anasarca, and electrolyte disturbances. The diagnostic work-up included an upper digestive endoscopy, which showed scalloping of the duodenal mucosa with pathological features confirmed on biopsies. Specific antibodies were positive, and a satisfactory clinical response was obtained once a gluten-free diet was started. Celiac crisis is a rare initial presentation of CD characterized by severe diarrhea, dehydration, weight loss, hypoproteinemia, and metabolic and electrolyte disturbances. Although rare, it should be considered in patients with apparently unexplained chronic diarrhea.

Efectos de la edad al momento del diagnóstico y cumplimiento de la dieta sobre los parámetros de crecimiento de los pacientes con celiaquía / Effects of age of diagnosis and dietary compliance on growth parameters of patients with celiac disease

Introducción. El objetivo fue evaluar la relación entre edad al diagnóstico y cumplimiento de dieta sin gluten (DSG) y su efecto sobre el crecimiento de niños celiácos y factores que influenciaron el cumplimiento de la DSG. Población y métodos. Se incluyeron pacientes celíacos con seguimiento en nuestro hospital entre enero 2015 a enero 2017. Se los clasificaron según edad al diagnóstico y cumplimiento de la DSG. Se compararon características antropométricas al diagnóstico y durante el seguimiento. Resultados. Participaron 73 pacientes con edad promedio de 10,4 ± 4,5 años; 35 (47,9%), los pacientes de talla baja al diagnóstico; eran mayores (7,8 ± 4,2 años) que los demás (5,1 ± 4,3 años de edad) (p= 0,005). Al diagnóstico, 33 (45,2%) pacientes tenían ≤6 años y 40 (54,8%) tenían >6 años. Los puntajes Z de estatura y peso a la edad >6 años eran significativamente menores que los diagnosticados a ≤6 años, en el diagnóstico (p= 0,01 y 0,04, respectivamente) como en el último control (p= 0,001 y 0,001, respectivamente). Tuvieron cumplimiento riguroso con DSG en 45 (61,6%) pacientes. Al comparar datos antropométricos , el aumento del índice de masa corporal (IMC) y del puntaje Z de peso en el grupo que cumplió la dieta fue significativamente mayor que en el otro grupo.Conclusiones. Demorar el diagnóstico de celiaquía afectó la estatura y peso. El cumplimiento de la DSG mejoró los parámetros de crecimiento, principalmente, el puntaje Z de peso y el IMC.

Introduction. The objective of this study was to evaluate the relation between age at diagnosis and compliance to gluten free diet (GFD) on growth in children with celiac disease and the factors that influenced compliance to GFD. Population and Methods. Celiac disease (CD) patients with villous atrophy followed in our hospital between January 2015 and January 2017, were included. They were classified according to diagnosis age and GFD compliance. Patients' anthropometric characteristics at diagnosis and follow-up were compared. Results. There were 73 patients with 10.4 ± 4.5 years of average age, 35 (47.9%) patients had a short stature at diagnosis, the ages of patients who had short stature (7.8 ± 4.2 years) were higher than those who did not (5.1 ± 4.3 years) (p= 0.005). At diagnosis, 33 (45.2%) patients were aged ≤6 years, 40 (54.8%) were aged >6 years. The height and weight z-scores of patients who were diagnosed at >6 years of age were significantly lower than those who were diagnosed ≤6 years of age both at diagnosis (p= 0.01 and 0.04) and at last control (p= 0.001 and 0.001), respectively. Forty-five (61.6%) patients were fully compliant with GFD. In comparison of anthropometric data in terms of GFD compliance, the increase in BMI and weightz-score in the fully compliant group was found to be significantly higher when compared with the other group. Conclusions. Delay in CD diagnosis negatively affected both the height and weight and other growth parameters. GFD compliance positively affected the patients' all growth parameters, especially weight and BMI z-score.

Percepción de estar haciendo bien la dieta sin gluten y adherencia al tratamiento en pacientes pediátricos con enfermedad celíaca / Perception of following gluten-free diet and adherence to treatment in pediatric patients with celiac disease

INTRODUCCIÓN: La enfermedad celíaca (EC) es una enteropatía crónica mediada inmunológicamente que afecta ~1% de la población. La dieta libre de gluten (DLG) es su único tratamiento y la principal limitante de su eficacia es la falta de adherencia. OBJETIVOS: Evaluar factores que influyen en la adherencia a la DLG de pacientes celiacos pediátricos. Medir la concordancia entre la serología y un cuestionario nutricional de adherencia. PACIENTES Y MÉTODO: Estudio transversal en celiacos menores de 18 años, en DLG por más de 6 meses. Se aplicó un cuestionario con 5 grupos de factores (OMS). Se registraron características clínicas, dieta de los últimos 3 meses, percepción (de padres/cuidadores, y del paciente adolescente) de la DLG; el conocimiento de los alimentos permitidos y disponibles en el país de la simbología "libre de gluten", y si lee/no lee ingredientes de un alimento antes de comprarlo. Se aplicó un score dando un punto a cada respuesta correcta (0-4). A un subgrupo se le aplicó el cuestionario de adherencia a la DLG de Biagi. Se midió EMA y TTG dentro de las 2 semanas posteriores a la entrevista. Se usó índice Kappa para evaluar la concordancia entre TTG y encuesta nutricional de adherencia; Chi cuadrado para la asociación entre los factores evaluados y los resultados de EMA y TTG, y Odds ratio como medida de asociación. Se aplicó un modelo de regresión logística a los factores asociados a los resultados de los exámenes de anticuerpos EMA y TTG (positivo-negativo). Se definió "buena adherencia a la DLG" cuando EMA y TTG fueron negativos. Resultados: De 65 pacientes; 44% y 30,1% adherían correctamente a la DLG según medición de anticuerpos (TTG y EMA) y el cuestionario, respectivamente. La "edad de inicio de la enfermedad" (p = 0,049), "percepción de estar realizando bien la DLG" (p = 0,002) y la "conducta del paciente frente a alimentos en reuniones sociales" (p = 0,005), se asociaron significativamente con adherencia a DLG. Hubo concordancia entre los exámenes serológicos y el cuestionario de adherencia (p = 0,0001). DISCUSIÓN: La adherencia fue menor que la reportada en la literatura. La intervención de variables asociadas a adherencia identificadas, podría ayudar al mejor seguimiento de los pacientes, especialmente en aquellos quienes por diversos motivos no puedan realizarse exámenes serológicos con la frecuencia adecuada.

INTRODUCTION: Celiac disease (CD) is a chronic immune-mediated enteropathy present in ~1% of population. Gluten-free diet (GFD) is the only treatment for this condition and the main limitation of its efficacy is the lack of adherence. OBJECTIVE: To assess factors influencing adherence to GFD in pediatric patients and measure the concordance between serological results and a nutritional adhe rence questionnaire. PATIENTS AND METHODS: celiac patients younger than 18 years of age, diagnosed CD following ESPGHAN criteria, on GFD for at least 6 months and consulting at Hospital Roberto del Río, Santiago, in 2008-2016, were assessed. Clinical presentation, nutritional evaluation and fac tors related to adherence to treatment (diet) were registered. A subsample answered Biaggi's nutri tional questionnaire. RESULTS: Of 65 evaluated patients, 44% and 30,1% adhered to GFD according to blood autoantibodies (TTG and EMA) and the adherence questionnaire, respectively. "Age at debut" (p = 0.049), "perception of following GFD correctly" (p = 0.002) and "behavior in social events" (p = 0.005) were significantly associated with adherence to GFD. There was concordance between serological test and Biagi's questionnaire (p = 0.0001). DISCUSSION: Adherence to GFD was lower than reported in literature. Intervention of some of the identified variables associated with adherence may help improving follow-up of celiac patients, especially those that due to diverse situations cannot measure their antibodies periodically.

Potencial associação da doença celíaca com anemia ferropriva refratária em crianças e adolescentes / Association of potential celiac disease and refractory iron deficiency anemia in children and adolescents

ABSTRACT BACKGROUND: Celiac disease is an enteropathy caused by dietary gluten. The combination of serologic, genetic and histologic data has led to description of other categories of this disease. OBJECTIVE: There are a number of patients with iron deficiency anemia (IDA) that do not respond to iron treatment and may be repeated for many times, Therefore, we aimed to investigate celiac disease in this group. METHODS: In this cross sectional transverse prospective study from August 2011 to February 2013, in a Pediatric care clinic affiliated to Shiraz University of Medical Sciences, 184 children including 92 IDA patients who responded to treatment using iron supplement, 45 non-responding iron deficient patients, and 47 healthy individuals, with the maximum age of 18 years, with written consent from their parents, participated in serologic screening (with Anti-TTG antibody and anti-Endomysial antibody) for celiac disease. Patients with at least one positive serology test underwent multiple mucosal biopsy from bulb and duodenum. RESULTS: Among 184 participants, 19 (10.3%) subjects had positive serologic test for celiac disease, including 13 (28.9%) patients in the group with refractory IDA, 5 (5.4%) patients in the group with treated IDA, and 1 patient in the healthy group. The frequency of positive serologic test in the group with IDA resistant to treatment was prominently higher than the other two groups (P<0.001). Among the patients with positive serologic celiac test who underwent endoscopy and biopsy, no histologic evidence of celiac disease was seen. They were diagnosed as potential celiac disease. CONCLUSION: Frequency of potential celiac disease in patients with refractory IDA was higher than control the subjects. Therefore, we recommend serologic screening for early detection and minimizing the complications of celiac disease and repeated iron therapy for this group.

RESUMO CONTEXTO: A doença celíaca é uma enteropatia causada pelo glúten na dieta. A combinação de dados sorológicos, genéticos e histológicos proporcionou a descrição de outras categorias desta doença. OBJETIVO: Há pacientes com anemia por deficiência de ferro que não respondem ao tratamento com ferro mesmo que repetido por muitas vezes. O objetivo deste trabalho foi investigar a presença de doença celíaca nestes indivíduos. MÉTODOS: Realizado estudo prospectivo com cruzamento secional transversal, de agosto de 2011 a fevereiro de 2013, em uma clínica de cuidados pediátricos afiliados a Shiraz University Medical Sciences, com 184 crianças incluindo 92 pacientes com anemia por deficiência de ferro que responderam ao tratamento com ferro suplementar, 45 não respondedores e 47 indivíduos sadios, com idade máxima de 18 anos, todos com consentimento informado dos pais. Todos participaram da triagem sorológica (com anticorpos anti-TTG e anticorpo antiendomísio) para doença celíaca. Pacientes com pelo menos um teste de sorologia positiva foram submetidos a biópsia da mucosa múltipla do bulbo e duodeno. RESULTADOS: Entre os 184 participantes, 19 (10,3%) tinham teste sorológico positivo para doença celíaca, incluindo 13 (28,9%) pacientes no grupo com a anemia por deficiência de ferro refratária, 5 (5,4%) pacientes no grupo com anemia por deficiência de ferro tratados e respondedores e 1 paciente do grupo saudável. A frequência de teste sorológico positivo no grupo com anemia por deficiência de ferro resistente ao tratamento foi destacadamente maior do que os outros dois grupos (P<0,001). Entre os pacientes com teste sorológico positivo para doença celíaca submetidos a endoscopia e biópsia, não foi vista nenhuma evidência histológica de doença celíaca. Foram diagnosticados como potencial doença celíaca. CONCLUSÃO: Potencial frequência de doença celíaca em pacientes com anemia por deficiência de ferro refratária foi maior do que nos controles. Portanto, recomendamos testes sorológicos de triagem para a detecção precoce, minimizando as complicações da terapia de ferro repetidas para este grupo.

Revisão da apresentação da doença celíaca num hospital pediátrico terciário / Review of celiac disease presentation in a pediatric tertiary centre

ABSTRACT BACKGROUND: Celiac disease is an immune-mediated disorder with a multiform presentation and therefore a challenging diagnosis. OBJECTIVE: Our purpose is to identify the epidemiological, clinical, laboratory and histologic characteristics of children with celiac disease at diagnosis and on follow-up. METHODS: Children with previously established or newly diagnosed celiac disease, admitted in a tertiary centre in a two-year period (2014-2016) were recruited. Data was collected retrospectively from electronic medical records and clinical notes, and subsequently analysed with SPSS version 20.0. RESULTS: A total of 159 patients, out of 312, were included. Age ranged from 1 to 17 years (mean ± SD: 8.5±4.5 years, 69% girls). Disease presentation was classical in 60%, non-classical in 25%, subclinical in 10% and 5% classified as potential celiac disease. Non-classical and subclinical profiles had a higher mean age at presentation but not statistically significant (P-value 0.24). The most frequent gastrointestinal features at presentation were abdominal pain (58%), diarrhea (43%) and bloating (27%). A positive family history for celiac disease was present in 24% (n=35). We found anaemia in 23%, low ferritin in 63% and a moderate to severe deficiency of 25-hydroxyvitamin D in 62%. celiac disease -specific serologic testing and esophagogastroduodenoscopy were performed in 99%. Histology revealed modified Marsh 2 or 3 enteropathy in 94%, the remaining had normal histology but positive human leukocyte antigen typing. Clinical improvement at 12 months of gluten-free diet was complete in 51% and partial in 49%. IgA tTG normalized after 12-30 months of gluten-free diet in 45%. On growth assessment at diagnosis and after 12-28 months of gluten-free diet, 100% had height increase (mean ±SD: 7.11±4.43 cm) and 96% weight gain (mean ±SD: 5.60±4.91 kg). CONCLUSION: Our findings outline the diverse clinical presentations of pediatric celiac disease that should be considered irrespective of age. Increased clinician's awareness will enable an early diagnosis and treatment, with subsequent symptom and nutritional status improvement.

RESUMO CONTEXTO: A doença celíaca é uma doença imuno-mediada com uma apresentação multiforme constituindo, por isso, um desafio diagnóstico. OBJETIVO: O objetivo deste trabalho foi identificar as características epidemiológicas, clínicas, laboratoriais e histológicas ao diagnóstico e no seguimento de crianças com doença celíaca. MÉTODOS: Foram incluídas crianças com doença celíaca admitidas num hospital pediátrico terciário ao longo de 2 anos (2014-2016). A recolha da informação clínica foi retrospetiva a partir dos processos clínicos eletrônicos ou em papel e analisada com o software SPSS versão 20.0. RESULTADOS: Foram incluídos 159 doentes, a partir de uma amostra de 312. A idade variou entre 1 e 17 anos (média ± desvio padrão: 8,5±4,5 anos, 69% do sexo feminino). A apresentação da doença foi clássica em 60%, não clássica em 25%, subclínica em 10% e classificada como doença celíaca potencial em 5%. Os doentes com apresentações não clássica e subclínica, tiveram uma idade média de apresentação superior, mas sem significância estatística (P=0,24). Ao diagnóstico, as manifestações gastrointestinais mais frequentes foram dor abdominal (58%), diarreia (43%) e distensão abdominal (27%). Havia história familiar de doença celíaca em 24% (n=35) dos doentes. Foi detetada anemia em 23%, níveis baixos de ferritina em 63% e um défice moderado a grave de 25-hidroxivitamina D em 62%. Foram realizados testes serológicos para a doença celíaca e a esofagogastroduodenoscopia em 99%. Os achados histológicos revelaram enteropatia nos estágios de Marsh modificado tipo 2 ou 3 em 94%, os restantes apresentavam histologia normal mas tipagem do antigénio leucocitário humano positiva. Aos 12 meses de dieta sem glúten a melhoria clínica foi completa em 51% e parcial em 49%. O valor de IgA tTG normalizou em 45% após 12-30 meses de dieta sem glúten. Na avaliação do crescimento, ao diagnóstico e após 12-28 meses de dieta sem glúten, 100% teve evolução estatural positiva (média ±DP: 7,11±4,43 cm) e 96% aumentaram de peso (média ±DP: 5,60±4,91 kg). CONCLUSÃO: Os resultados do estudo evidenciam a diversidade da apresentação clínica da doença celíaca em pediatria, devendo ser considerada em todas as idades. Um maior reconhecimento da doença pelos médicos permitirá um diagnóstico e tratamento atempados, com subsequente melhoria sintomática e do estado nutricional.

Prolapso rectal como presentación inhabitual de enfermedad celiaca. A propósito de 2 casos clínicos / Rectal prolapse as an unusual presentation of celiac disease. Report of two cases

Resumen Introducción: El prolapso rectal (PR) está relacionado a un aumento de presión intrabdominal, patología del piso pélvico o esfínter anal, siendo las causas más frecuentes la constipación, fibrosis quística, tos convulsiva y diarrea disentérica. La enfermedad celiaca no está considerada entre las patologías relacionadas a PR. Objetivo: Dar a conocer una asociación escasamente descrita entre PR y enfermedad celiaca. Casos Clínicos: Se presentan 2 preescolares en quienes el motivo de consulta fue el PR, cuyo estudio se enfocó como diarrea prolongada, debido al antecedente de deposiciones de consistencia pastosa. En los exámenes destacaron títulos de anticuerpos anti-transglutaminasa tisular (Ac anti-tTG) elevados, y biopsias duodenales con atrofia vellositaria y aumento de linfocitos in-traepiteliales, compatible con enfermedad celiaca. Ambos tuvieron una excelente respuesta a la dieta libre de gluten, con rápida normalización de las deposiciones, sin nuevos episodios de PR, desarrollo pondoestatural normal y Ac anti-tTG negativos en los controles anuales a 5 años de seguimiento. Conclusiones: Aunque la asociación entre PR y enfermedad celiaca prácticamente no ha sido descri ta, debe considerarse en pacientes que se presenten con PR.

Abstract Introduction: Rectal prolapse (RP) is related to an increase of intra-abdominal pressure, pelvic floor disease or anal sphincter. The most common causes of RP are constipation, cystic fibrosis, whooping cough and dysenteric diarrhea. However, celiac disease is not considered among the pathologies re lated to RP. Objective: To present a scarcely described association between RP and celiac disease. Clinical Cases: We presented 2 preschoolers in whom the reason for consultation was RP, whose study was focused on as prolonged diarrhea, due to the antecedent of pasty consistency of stools. The tests showed elevated anti-tissue transglutaminase (anti-tTG) antibody titers, and duodenal biopsies with villous atrophy and increased intraepithelial lymphocytes, consistent with celiac disease. Both had an excellent response to the gluten-free diet, with rapid normalization of depositions, without presenting any episodes of RP after treatment. Both with normal staturo-ponderal development and anti-tTG-negative controls at the annual 5-year follow-up. Conclusions: Although the association between RP and celiac disease has not been described yet, it should be considered in diagnosis and treatment.