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.

Manifestaciones bucales de la enfermedad celíaca y alergia al trigo: Reporte de tres casos y revisión literatura / Oral Manifestations of Celiac Disease and Wheat Allergy: Report of Three Cases and Review of Literature

Resumen: La Enfermedad Celíaca (EC) es una enfermedad sistémica inmunomediada, provocada por el gluten y prolaminas relacionadas, en individuos genéticamente susceptibles. Se caracteriza por manifestaciones clínicas dependientes del gluten, anticuerpos específicos de EC, haplotipos HLA DQ2 o DQ8 y enteropatía. La mayoría de los pacientes son asintomáticos o con manifestaciones leves. Afecta principalmente el sistema gastrointestinal causando síntomas y signos como diarrea, dolor abdominal recurrente y distensión abdominal; además manifestaciones extradigestivas. Los pacientes con EC pueden tener manifestaciones bucales que incluyen estomatitis aftosa recurrente (EAR), hipoplasia del esmalte, glositis atrófica, entre otras. El diagnóstico de EC se basa en la historia clínica, serología, endoscopía e histología. Existen otras entidades que deben diferenciarse de la EC, como la sensibilidad al gluten no celíaca y la alergia al trigo. El objetivo de este trabajo es presentar tres pacientes con antecedentes de EAR y otras manifestaciones clínicas asociadas al diagnóstico precoz de EC y alergia alimentaria.

Abastract: Celiac Disease (CD) is an immune-mediated systemic disease, caused by gluten and related prolamins, in genetically susceptible individuals. It is characterized by gluten-dependent clinical manifestations, CD-specific antibodies, HLA DQ2 or DQ8 haplotypes, and enteropathy. Most patients are asymptomatic or with mild manifestations. It mainly affects the gastrointestinal system causing symptoms and signs such as diarrhea, recurrent abdominal pain and abdominal distension; also extradigestive manifestations. Patients with CD may have oral manifestations that include recurrent aphthous stomatitis (RAS), enamel hypoplasia, atrophic glossitis, among others. The diagnosis of CD is based on clinical history, serology, endoscopy and histology. There are other entities that should be differentiated from CD, such as non-celiac gluten sensitivity and wheat allergy. The aim of this study is to present three patients with a history of RAS and other clinical manifestations associated with the early diagnosis of CD and food allergy.

Coagulopatía asociada a síndrome de malabsorción por enfermedad celíaca / Coagulopathy associated with celiac disease malabsorption syndrome

This article describes a 19-y-old patient with abdominal pain and signs of malnutrition. She had been treated previously with an antibiotic for chronic diarrhea. Laboratory analyses showed the presence mild hypoalbuminemia, and considerably prolonged prothrombin time. Tests revealed that hemostasis improved after the patient received fresh frozen plasma and vitamin k. A coagulation profile showed a decrease in clotting factors V, VII, IX, and fibrinogen. Positive serology (immunoglobulin A antitissue transglutaminase and immunoglobulin A antiendomysial antibodies) and small bowel mucosal histopathology confirmed the presence of celiac disease (CD). The girl recovered completely after she was put on a gluten-free diet. Vitamin K­deficiency is a rare complication that occurs in celiac disease manifestations. In addition to antibiotic therapy, treatment with other drugs that influence vitamin K resorption and metabolism may increase the risk of bleeding in patients with CD with hypoprothrombinemia.

Enfermedad celíaca, epilepsia y calcificaciones cerebrales / Celiac disease, epilepsy and cerebral calcifications

Resumen Varón de 33 años con antecedentes de convulsiones febriles y discapacidad intelectual moderada grave, inició a los 2 años convulsiones tanto focales como generalizadas atónicas diarias, que ocasionaron traumas faciales. Debido a la farmacorresistencia se implantó un estimulador del nervio vago, con respuesta parcial al mismo. Durante su seguimiento, se hizo diagnóstico de enfermedad celíaca. Al realizar una tomografía de encéfalo se evidenciaron calcificaciones piriformes occipitales bilaterales, estableciéndose el diagnostico de enfermedad celiaca, epilepsia y calcificaciones cerebrales. Se le indicó dieta libre de gluten y continuar el tratamiento farmacológico, logrando de esta manera una reducción de las crisis.

Abstract A 33-year-old man with a history of febrile seizures and moderate-severe intellectual disability began, at 2 years, both focal and generalized daily atonic seizures, which caused facial trauma. Due to drug resistance, a vagus nerve stimulator was implanted, with partial response to it. During his follow-up, he was diagnosed with celiac disease. When performing a brain tomography, bilateral occipital pyriform calcifications were evidenced, establishing the diagnosis of celiac disease, epilepsy and cerebral calcifications. A gluten-free diet was indicated and pharmacological treatment continued, thus achieving a reduction in seizures.

Hemorragia digestiva y enfermedad celíaca complicada en paciente anticoagulado / Gastrointestinal bleeding and complicated celiac disease in anticoagulated patient

Resumen La enfermedad celíaca tiene una considerable frecuencia en nuestro medio. La mayoría de los pacientes presenta mejoría clínica, serológica y endoscópica al poco tiempo de iniciada la dieta libre de gluten. Un muy bajo porcentaje puede presentar o desarrollar una "enfermedad celíaca complicada", entidad que comprende el esprue refractario, la yeyunitis ulcerativa y el linfoma intestinal, que conllevan pronósticos desfavorables, con requerimiento de tratamientos más radicales. Presentamos aquí el caso de un paciente de 77 años evaluado en nuestro centro, que ingresó para estudio de hemorragia digestiva aguda y se realizó finalmente diagnóstico de enfermedad celiaca complicada, requiriendo inicio de tratamiento con corticoides sistémicos y seguimiento estrecho ambulatorio.

Abstract Celiac disease is considerably frequent in our media. Gluten-free diet shows clinical, serological and endoscopic improvement in most patients shortly after its start. A few patients may present or develop a "complicated celiac disease", an entity that includes refractory sprue, ulcerative jejunitis and intestinal lymphoma, which carry unfavorable prognoses, requiring more radical treatments. We present here the case of a 77-year-old male patient evaluated in our center, who was admitted for study of acute gastrointestinal bleeding. Complicated celiac disease was diagnosed, systemic corticosteroids were started and a close follow-up was carried out.

Enfermedad celíaca y el nuevo Coronavirus SARS-CoV-2 / Celiac disease and the novel Coronavirus SARS-CoV-2

To date, it has not been described that celiac disease (CD) increases the risk of contagion by the new coronavirus SARS-CoV-2 nor the severity of the disease. The main risk factors for severe disease for this coronavirus are old male patients (> 65 years) with hypertension, diabetes, obesity, smoking, lung, cardiovascular and kidney diseases. The only treatment for CD is a gluten-free diet that improves the intestinal immune response. Adherence to treatment and follow-up of recommendations by experts during the COVID-19 period, would ensure celiac patients are better prepared for this pandemic.

Hasta la fecha no se ha descrito que la enfermedad celíaca (EC) incremente el riesgo de contagio por el nuevo coronavirus SARS-CoV-2 ni la gravedad de la enfermedad. Los principales factores de riego de enfermedad grave para este coronavirus son pacientes mayores de 65 años de sexo masculino con hipertensión, diabetes, obesidad, tabaquismo, y enfermedades pulmonar, cardiovascular y renal. El único tratamiento de la EC es la dieta libre de gluten que mejora la respuesta inmune intestinal. La adherencia al tratamiento y el seguimiento de recomendaciones dadas por expertos durante el período COVID-19, aseguraría a los enfermos celíacos, estar mejor preparados para esta pandemia.

Irritable bowel syndrome in celiac disease - relationships to celiac disease antibodies and levels of pro-inflammatory cytokines / Síndrome del intestino irritable en la enfermedad celíaca: relaciones con los anticuerpos contra la enfermedad celíaca y los niveles de citocinas proinflamatorias

ABSTRACT Background: Evidence indicates that low-grade inflammation can alter gastrointestinal motor and sensory function and might contribute to the genesis of symptoms in IBS. Objective: To examine relationships between IBS, disease antibodies and cytokine titers in celiac patients and a control group. Materials and methods: IBS, CD activity and serum levels of IL-6, IL-8 and IL12/23p40 were determined in celiac patients and controls. Results: 123 celiac patients were included, 89% were female. 59% demonstrated disease activity and 32% met IBS criteria. Prevalence of IBS was not different between patients who adhered or did not adhere to GFD as well as between patients with or without positive antibodies. Celiac patients had increased levels of IL-6, IL-8 and IL12/23p40 as compared to controls. Higher levels of cytokines were found in celiac patients with IBS than in those without IBS. No difference in levels of cytokines was found between patients with and without CD positive antibodies. A significant negative correlation between the mental component of QoL and IL-6 and IL12/23p40 levels was found, but not with IL-8. Conclusion: Higher levels of inflammatory cytokines were found in CD patients with IBS than in either those without IBS or controls, indicating that IBS symptoms are associated with an increase in the inflammatory response and a decrease in quality of life of CD patients. These differences in cytokine levels were not related to CD antibodies status suggesting that IBS, in CD, is related to a different inflammatory process than that which is relevant to CD.

RESUMEN Antecedentes: la evidencia indica que la inflamación de bajo grado puede alterar la función motora y sensorial gastrointestinal y puede contribuir a la aparición de síntomas en el SII. Objetivo: Examinar la relación entre SII, anticuerpos contra enfermedades y títulos de citocinas en pacientes celíacos y un grupo de control. Materiales y métodos: se determinaron los síntomas de SII, actividad de CD y niveles séricos de IL-6, IL-8 e IL12 / 23p40 en pacientes celíacos y controles. Resultados: se incluyeron 123 pacientes celíacos, el 89% eran mujeres. El 59% demostró actividad de la enfermedad y el 32% cumplió con los criterios del SII. La prevalencia del SII no fue diferente entre los pacientes que se adhirieron o no se adhirieron a GFD, así como entre los pacientes con o sin anticuerpos positivos. Los pacientes celíacos tenían niveles aumentados de IL-6, IL-8 e IL12 / 23p40 en comparación con los controles. Se encontraron niveles más altos de citocinas en pacientes celíacos con SII que en aquellos sin SII. No se encontraron diferencias en los niveles de citocinas entre pacientes con y sin anticuerpos CD positivos. Se encontró una correlación negativa significativa entre el componente mental de la calidad de vida y los niveles de IL-6 e IL12 / 23p40, pero no con IL-8. Conclusión: Se encontraron niveles más altos de citocinas inflamatorias en pacientes con EC con SII que en aquellos sin SII o controles, lo que indica que los síntomas del SII están asociados con un aumento en la respuesta inflamatoria y una disminución en la calidad de vida de los pacientes con CD. Estas diferencias en los niveles de citocinas no estaban relacionadas con el estado de los anticuerpos contra la CD, lo que sugiere que el SII, en la CD, está relacionado con un proceso inflamatorio diferente al que es relevante para la CD.

Evaluation of adult celiac disease from a tertiary reference center: a retrospective analysis

SUMMARY OBJECTIVE It has been observed that celiac disease (CD) is not restricted to a single type characterized by diarrhea but also has atypical, asymptomatic (silent), and latent forms. The prevalence of this autoimmune disease, which affects approximately 1% of the world, is estimated to be around 3%, including atypical and asymptomatic cases. In our study, we aimed to evaluate adult celiac patients. METHODS Between December 2008-2015, patients diagnosed with CD over the age of 18 years old were included in the study. Patients' symptoms at admission, frequency and type of anemia, transaminase levels, and celiac antibody positivity, and autoimmune diseases diagnosed at follow up were evaluated retrospectively. RESULTS Of 195 patients, 151 (77.4%) were female. The mean age of the patients was 35.73 ± 12.19 years (range, 18-71 years). A hundred patients (51.3%) had gastrointestinal symptoms. At the time of admission, 118 patients (60.5%) had anemia, and 52 (26.7%) had hypertransaminasemia. During the mean follow-up period of 58 months (36-120 months), 84 (43.1%) of the patients presented at least one autoimmune disease, and this rate was 96.6% in individuals diagnosed above the age of 50 years. CONCLUSION In adult CD, resistant anemia, dyspepsia, and hypertransaminasemia are very common findings at the time of diagnosis, and the association with other autoimmune diseases, especially Hashimoto's thyroiditis, is high.

RESUMO OBJETIVOS Observou-se que a doença celíaca (DC) não se restringe a um único tipo caracterizado por diarreia, mas também tem formas atípicas, assintomáticas (silenciosas) e latentes. Estima-se que a prevalência desta doença autoimune, que afeta aproximadamente 1% da população do mundo, seja em torno de 3%, incluindo casos atípicos e assintomáticos. Em nosso estudo, objetivou-se avaliar pacientes celíacos adultos. MÉTODOS Entre dezembro de 2008 e 2015, pacientes diagnosticados como DC com idade acima de 18 anos foram incluídos no estudo. Os sintomas dos pacientes na admissão, frequência e tipo de anemia, níveis de transaminases e positividade de anticorpos celíacos e doenças autoimunes diagnosticadas no seguimento foram avaliados retrospectivamente. RESULTADOS Dos 195 pacientes, 151 (77,4%) eram do sexo feminino. A média de idade dos pacientes foi de 35,73±12,19 anos (variação de 18 a 71 anos). Cem pacientes (51,3%) foram encaminhados com sintomas gastrointestinais. No momento da internação, 118 pacientes (60,5%) apresentavam anemia e 52 (26,7%) apresentavam hipertransaminemia. Durante o período médio de acompanhamento de 58 meses (36-120 meses), 84 (43,1%) pacientes estavam acompanhados por pelo menos uma doença autoimune, e essa taxa foi de 96,6% em indivíduos diagnosticados acima dos 50 anos de idade. CONCLUSÃO No adulto DC, anemia resistente, dispepsia e hipertransaminasemia são achados muito comuns no momento do diagnóstico e a associação com outras doenças autoimunes, especialmente tireoidite de Hashimoto, é alta.

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.

The cause of abdominal mass in a child with celiac disease: Rapunzel syndrome. A case report

ABSTRACT CONTEXT: Rapunzel syndrome is a rare form of gastric trichobezoar that develops through outstretching of the bezoar from the stomach to the intestine. CASE REPORT: A 12-year-old girl who had been diagnosed with celiac disease six years earlier was brought to the department of pediatric gastroenterology because of abdominal distension. A palpable mass was detected. A trichobezoar that stretched to the small intestine was removed surgically. The patient was diagnosed as having anxiety and depressive disorder, and treatment started. Following the treatment, her previous trichophagia completely disappeared. CONCLUSION: Presence of trichobezoar should be kept in mind, especially when young girls who have psychiatric problems suffer from gastrointestinal symptoms.

Niveles de IgA en adultos con enfermedad celíaca / IgA levels in adults with celiac disease

La enfermedad celíaca (EC) es una enfermedad autoinmune sistémica desencadenada por el consumo de gluten de la dieta en personas con susceptibilidad genética. Los principales test serológicos utilizados para el diagnóstico y seguimiento de la EC son pruebas basadas en anticuerpos de isotipo inmunoglobulina (Ig) A, siendo la determinación de IgA anti-transglutaminasa tisular (tTG)2 la prueba serológica inicial de elección. La deficiencia selectiva de IgA (DSIgA), es más prevalente en pacientes con EC que en la población general, dificultando el diagnostico serológico de la enfermedad. En el presente estudio observacional descriptivo, se incluyeron 74 pacientes adultos con diagnóstico confirmado de EC y se determinó IgA anti-tTG2 en suero mediante ensayo de ELISA a fin de detectar a aquellos pacientes con niveles indeterminados o negativos, los cuales podrían presentar DSIgA. Se dosó IgA total en el suero de estos pacientes por inmunodifusión radial y el promedio fue de 237,8 ± 100,6 mg/dL. En una paciente del sexo femenino fue detectada IgA total menor a 7 mg/dL, con niveles séricos de IgG e IgM normales, característicos de la DSIgA. Así, la frecuencia calculada de DSIgA fue de 1,35% en la población con EC estudiada. En conclusión, este trabajo es una primera aproximación para describir la frecuencia de DSIgA en pacientes con EC del país y reafirma la importancia de incluir el dosaje de IgA total en el caso de realizar test serológicos de la EC basados en IgA(AU)

Detección de gluten en alimentos etiquetados como libres de gluten disponibles en el mercado costarricense / Gluten detection in foods labeled as gluten-free available in the Costa Rican marke

La presencia de gluten en alimentos etiquetados como libres de gluten (LG) representa una preocupación para la salud de pacientes celíacos, y personas intolerantes y sensibles a este conjunto de proteínas. Sin embargo, esto no ha sido estudiado aún en países centroamericanos. Por tanto, se investigó la presencia de gluten en alimentos etiquetados LG, manufacturados en Costa Rica y disponibles en el mercado entre los años 2016 y 2017 para determinar así el cumplimiento de las regulaciones nacionales e internacionales. Se ha estipulado que dichos alimentos deben contener <20 ppm de gluten. Un total de 173 productos fueron analizados por inmunoensayo (tres muestras por producto; cada una de un lote diferente) utilizando el kit ELISA RIDASCREEN®. 60 marcas de productos, de 32 compañías diferentes, fueron evaluadas identificando 15 categorías de alimentos LG: productos horneados, premezclas y harinas, snacks, granos y cereales, salsas, productos cárnicos, productos de origen marino, bebidas, productos lácteos, pastas, chocolates, aceites, tortillas y arepas, jaleas y mermeladas y otros. Una muestra de uno de los productos analizados presentó >20 ppm de gluten. No obstante, al menos una muestra de 49 productos diferentes (28% de los productos analizados) presentó una concentración cuantificable de gluten (>5 ppm) evidenciando una alta variabilidad en los resultados. Esta investigación evidencia el fuerte compromiso de la industria alimentaria costarricense para cumplir la norma que regula la producción de alimentos LG durante el período de estudio, aunque se alerta acerca de la necesidad de implementar mejoras en los sistemas de producción y vigilancia de estos alimentos(AU)

The presence of gluten in gluten free (GF) labelled foods represents a serious health concern to celiac patients and persons intolerant or sensitive to this set of proteins. However, this has not yet been studied in Central American countries. Therefore, the presence of gluten in foods labeled LG, manufactured in Costa Rica and available in the market, between 2016 and 2017, was investigated to determine compliance with national and international regulations. It has been stipulated that such foods must contain <20 ppm of gluten. A total of 173 products were analyzed by immunoassay (three samples per product; each from an independent batch), using the ELISA RIDASCREEN® kit. 60 product brands, from 32 different companies, were evaluated and 15 GF food categories were identified: baked products, baking mixes and flours, snacks, grains and cereals, sauces, meat products, seafood, beverages, dairy products, pasta, chocolates, oils, tortillas and arepas, jams and jellies, and others. Only one sample from one of the tested products presented >20 ppm of gluten. However, at least one sample of 49 different products (28% of products tested) presented a quantifiable concentration of gluten (>5 ppm), showing a high variability of results. This research evidences the strong commitment of the Costa Rican food industry to comply with the norm that regulates the production of LG foods during the study period, even though it warns about the need to implement improvements in the production and surveillance systems of these foods(AU)

Dolor y distensión abdominal: abordaje diagnóstico a distintas edades / Abdominal pain and distention: diagnostic approach at different ages

Fluctuating abdominal pain and bloating suggest gastrointestinal origin with multiple causes. In adults, patients fulfilling the Rome criteria for irritable bowel syndrome (IBS) have a low probability of neoplasms or intestinal inflammatory diseases. In these patients it is cost effective to request fecal calprotectin and celiac disease serology. Due to the high probability of nocebo effect, the diagnosis of sensitivity to non celiac and food allergies should require a blind rechallenge. It is recommended to evaluate other non ominous diagnostic options in a second stage if there is not good control of symptoms. In adults that do not fulfil the criteria of IBS or in adults older than 50 it is often necessary to request more studies, including endoscopic examinations. In children, abdominal pain and bloating occur frequently in the context of excessive consumption of sugar (including fructose, lactose and sorbitol). In infants it can occur in the context of congenital malformations, infant colics and food allergies. An active search for symptoms and signs of alarm is recommended. In their absence the performance of an endoscopic study is low. The use of celiac disease serology is also recommended, but the use of fecal calprotectin has the limitation that normal values are not present below age 4, so its use is not recommended under that age.

El dolor abdominal y la distensión abdominal fluctuantes sugieren origen gastrointestinal, con múltiples causas. En adultos, los pacientes que cumplen criterios de Roma para Síndrome de Intestino Irritable (SII) tienen una baja probabilidad de neoplasias o enfermedades inflamatorias intestinales (EII). En estos pacientes, es costoefectivo solicitar calprotectina fecal y serología de enfermedad celiaca. Por la alta probabilidad de efecto nocebo, el diagnóstico de sensibilidad al gluten no celiaca (SGNC) y alergias alimentarias debería requerir un rechallenge ciego. Es recomendable evaluar otras opciones diagnósticas no ominosas en una segunda etapa, si no hay buen control sintomático. En adultos que no cumplen criterios de SII o en adultos mayores de 50 años, suele requerirse más cantidad de estudios, incluyendo endoscópicos. En niños, el dolor abdominal y distensión ocurren frecuentemente en el contexto de consumo excesivo de azúcares (incluyendo fructosa, lactosa y sorbitol). En lactantes puede ocurrir también en el contexto de malformaciones congénitas, cólicos del lactante y alergia alimentaria. Se recomienda la búsqueda activa de signos y síntomas de alarma. En su ausencia el rendimiento del estudio endoscópico es bajo. También se recomienda el uso de serología de enfermedad celíaca, pero el uso de calprotectina fecal tiene la limitación de ausencia de valores de normalidad hasta los 4 años, por lo que su uso no se recomienda bajo esa edad.

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.

Search for DQ2 5 and DQ8 alleles using a lower cost technique in patients with type 1 diabetes and celiac disease in a population of southern Brazil

ABSTRACT Objective To evaluate the frequency of DQ2.5 and DQ8 alleles using the Tag-single-nucleotide polymorphism (Tag-SNP) technique in individuals with type 1 diabetes mellitus (T1DM) and celiac disease (CD) in southern Brazil. Materials and methods In a prospective design, we performed the search for DQA1*0501 and DQB1*0201 alleles for DQ2.5 and DQB1*0302 for DQ8 through Real-Time Polymerase Chain Reaction (RT-PCR) technique, using TaqMan Genotyping Assays (Applied Biosystems, USA). The diagnosis of CD was established by duodenal biopsy and genotypic determination performed by StepOne Software v2.3. Allelic and genotypic frequencies were compared between groups using Chi-square and Fisher's exact tests and the multiple comparisons using Finner's adjustment. Results Three hundred and sixty two patients with a median age of 14 years were divided into 3 groups: T1DM without CD (264); T1DM with CD (32) and CD without T1DM (66). In 97% of individuals with T1DM and CD and 76% of individuals with CD without T1DM, respectively, the alleles DQ2.5 and/or DQ8 were identified (p < 0.001). DQ2.5 was more common in individuals with CD (p = 0.004) and DQ8 was more common in individuals with type 1 diabetes (p = 0.008). Conclusions The evaluation of the alleles for DQ2.5 and DQ8 by Tag-SNP technique showed a high negative predictive value among those with T1DM, similar to that described by the conventional technique. The high frequency of DQ8 alleles in individuals with T1DM did not allow differentiating those at higher risk of developing T1DM.

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.

Associação entre doença celíaca e complicações do diabetes em pacientes com diabetes mellitus tipo 1: revisão sistemática / Association of celiac disease and complications of diabetes in type 1 diabetes mellitus patients: sistematic review

Devido à genética comum e à interação entre fatores ambientais e imunológicos, os pacientes com diabetes mellitus tipo 1 possuem um maior risco de desenvolverem outras doenças autoimunes, como a doença celíaca. O objetivo do trabalho foi avaliar a associação entre a doença celíaca e a presença de complicações do diabetes em pacientes com diabetes mellitus tipo 1. Foi realizada uma revisão sistemática da literatura, empregando as bases de dados PubMed, Web of Science, SciELO e LILACS. Foram estabelecidos como critérios de elegibilidade: estudos observacionais originais redigidos em português, inglês ou espanhol, que avaliaram a associação entre a doença celíaca e a presença de complicações do diabetes em pacientes com diabetes mellitus tipo 1. O processo de busca resultou em 3.651 artigos, e 13 foram incluídos no estudo. As principais complicações do diabetes avaliadas nos estudos selecionados foram nefropatia (34,8%) e retinopatia (26,1%), seguidas de hipoglicemia (13,0%), níveis reduzidos de HDL-colesterol (8,7%), neuropatia periférica (4,3%), aterosclerose subclínica (4,3%), doença cardiovascular (4,3%) e cetoacidose (4,3%). Para os níveis reduzidos de HDL-colesterol, doença cardiovascular, aterosclerose subclínica e neuropatia periférica, 100% dos estudos encontraram associação entre a doença celíaca e a presença destas complicações do diabetes. Com relação à retinopatia, nefropatia e hipoglicemia, 50%, 37,5% e 33,3% dos estudos encontraram associação, respectivamente, enquanto que nenhum estudo encontrou associação entre a doença celíaca e a cetoacidose. Portanto, foi verificada associação entre a doença celíaca e a presença de complicações do diabetes em pacientes com diabetes mellitus tipo 1.(AU)

Due to common genetics, and to interaction between environmental and immunologic factors, patients with type 1 diabetes mellitus have a higher risk to develop other autoimmune diseases, such as celiac disease. The aim of this study was to evaluate the association between celiac disease and the presence of complications of diabetes in patients with type 1 diabetes mellitus. A systematic review of literature was performed, using PubMed, Web of Science, Scielo and Lilacs databases. Eligibility criteria were: original observational studies written in Portuguese, English or Spanish, which evaluated the association between celiac disease and the presence of diabetes complications in patients with type 1 diabetes mellitus. The research resulted in 3651 papers, and from these, 13 were included in the study. The main complications of diabetes evaluated in the studies selected were nephropathy (34.8%) and retinopathy (26.1%), followed by hypoglycemia (13.0%), lower levels of HDL cholesterol (8.7%), peripheral neuropathy (4.3%), subclinical atherosclerosis (4.3%), cardiovascular disease (4.3%), and ketoacidosis (4.3%). Regarding lower levels of HDL cholesterol, cardiovascular disease, subclinical atherosclerosis, and peripheral neuropathy, 100% of the studies found an association between celiac disease and the presence of these complications of diabetes. Regarding retinopathy, nephropathy and hypoglycemia, 50%, 37.5% and 33.3% of the studies found some association, respectively, while none of the studies detected any association between celiac disease and ketoacidosis. Therefore, an association between celiac disease and the presence of diabetes complications in patients with type 1 diabetes mellitus was observed.(AU)

Prevalencia de causas secundarias de baja masa ósea en una población de mujeres premenopáusicas / Prevalence of secondary causes in a population of premenopausal women with low bone mass

La osteoporosis es un trastorno común en las mujeres posmenopáusicas; sin embargo, también puede afectar a hombres y mujeres jóvenes premenopáusicas. El objetivo del presente trabajo fue evaluar la prevalencia de causas secundarias de baja masa ósea en un grupo de mujeres premenopáusicas que consultaron en una Institución especializada en Osteología. Material y métodos: se realizó un estudio retrospectivo, de corte transversal, descriptivo y observacional. Se analizaron las historias clínicas de 88 pacientes que consultaron por baja masa ósea durante un período de 19 meses, con la finalidad de encontrar posibles causas secundarias. A su vez, se definió como pacientes con diagnóstico de baja masa ósea idiopática aquellas en las cuales no se encontró ninguna causa secundaria de pérdida ósea. Resultados: de las 88 mujeres evaluadas, el 48,9% presentaba al menos una causa secundaria para baja masa ósea (amenorrea secundaria, hipercalciuria, tratamiento con glucorticoides, hipovitaminosis D y enfermedad celíaca) y el 51,1% fueron consideradas idiopáticas. Conclusiones: es esencial evaluar exhaustivamente a las mujeres premenopáusicas con baja masa ósea a fin de descartar posibles causas secundarias y tomar las medidas preventivas necesarias para mejorar esa condición. (AU)

Objective: osteoporosis is a common disorder in postmenopausal women, however it can also affect men and premenopausal young women. The purpose of this study was to evaluate the prevalence of secondary causes of low bone mass in premenopausal women that consulted physicians in an institution specialized in osteology for a period of 19 months. Material and methods: this is a retrospective, transversal, descriptive and observational study. The clinical history of 88 patients who consulted a physician due to low bone mass for a period of 19 months in an institution specialized in osteology. Were analyzed the patient's clinical history in order to find secondary causes. We define as suffering Low Bone Mass those patients who did not have secondary causes. Results: of the 88 women tested, 48,9% had one or more secondary causes or risks factors for low bone mass (secondary amenorrea, hypercalciuria, treatment with glucocorticoids, hypovitamiosis D and celiac disease) and 51,1% patients were considered idiopathic. Conclusions: we conclude that it is essential to exhaustively search for secondary causes of low bone mass in premenopausal women, due to the high prevalence of secondary osteoporosis in this population. (AU)

Anti-TTG entre crianças com constipação funcional crônica não responsivas após 6 semanas de tratamento da constipação / Anti-ttg among children with chronic functional constipation unresponsive to 6 weeks of treatment of constipation

ABSTRACT BACKGROUND Celiac disease is a glutten induced enteropathy. Some authors recommended screening celiac in children with constipation. There are studies to evaluate celiac disease in children with constipation. But most of them included children regardless to treatment failure. OBJECTIVE The aim of this study was to evaluate frequency of elevated anti TTG in children with constipation after failure to improve during 6 week of appropriate treatment of constipation. METHODS In this cross sectional study, 550 children with prolonged constipation were included. Place of study was Pediatric Gastroenterology clinic of Abuzar children's hospital. Prolonged constipation was defined as a constipation which failed to resolved after 6 weeks of appropriate treatment. Constipation was defined according to ROME III criteria. After parental agreement, 5 mL of blood was obtained. Serum anti TTG level was measure using ELISA method by Orientec kit. Anti TTG>10 was considered positive if IgA was normal. SPSS version 16.0 (Chicago, IL, USA) was used for data analysis. Chi square, t-test, and Mann Whitney test used for data analysis. RESULTS In this study 550 children (m=277, f=273) were included. Mean age of the cases was 6.8±2.9 year. Anti TTG antibody level was 5.8±2.8 unit/mL. Of these case, 42 (7.6%) had positive anti-TTG antibody. Celiac disease was confirmed in 40 cases after histopathology examination. CONCLUSION Anti-TTG was positive in 7.6% children with chronic constipation who failed to respond after 6 week of treatment. Another multicenter study with longer follow up period is recommended.

RESUMO CONTEXTO A doença celíaca é uma enteropatia glúten-induzida. Alguns autores recomendam a triagem de doença celíaca em crianças com constipação. Há estudos para avaliar a doença celíaca em crianças com constipação, mas a maioria inclue crianças independentemente do insucesso do tratamento. OBJETIVO O objetivo deste estudo foi avaliar a frequência de anti-TTG elevado em crianças com constipação após 6 semanas de tratamento adequado e sem sucesso. MÉTODOS Através de cruzamento seccional, 550 crianças com constipação prolongada foram incluídas. O local de estudo foi o ambulatório de Gastroenterologia Pediátrica do Hospital Infantil de Abuzar. Constipação prolongada foi definida como uma constipação, cuja resolução falhou após 6 semanas de tratamento adequado. Constipação foi definida de acordo com critérios de Roma III. Após o consentimento informado dos pais, obteve-se 5 mL de sangue. O nível de anti TTG no soro foi medido usando-se o método ELISA pelo Orientec kit. O anti-TTG >10 foi considerado positivo se IgA estivesse normal. Os dados foram analisados através de testes do Chi-quadrado, t-teste e teste de Mann Whitney utilizando-se o SPSS versão 16.0 (Chicago, IL, EUA). RESULTADOS Um total de 550 crianças (m=277, f=273) foi incluído neste estudo. A média de idade dos pacientes foi 6,8±2,9 anos. O nível de anticorpo anti-TTG foi de 5,8±2,8 unidades/mL. Do total, 42 (7,6%) indivíduos tinham anticorpos anti-TTG positivo. A doença celíaca foi confirmada em 40 casos após exame de histopatologia. CONCLUSÃO O Anti-TTG foi positivo em 7,6% crianças com constipação crônica que não conseguiram responder após 6 semanas de tratamento. Outro estudo multicêntrico, com acompanhamento mais longo período é recomendado.