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.

Hipomineralização de molares e incisivos e doença celíaca / Molar incisor hypomineralization and celiac disease

ABSTRACT BACKGROUND: Molar incisor hypomineralization (MIH) is a developmental enamel defect with multifactorial etiology. Although the relationship between celiac disease (CD) and developmental enamel defect was demonstrated, the association between CD and MIH is uncertain. OBJECTIVE: The objective of this study was to analyze the occurrence of MIH in CD patients. METHODS: Forty CD patients and a control group with 40 healthy individuals were selected. A calibrated examiner (k≥0.889) according to the European Academy of Pediatric Dentistry criteria performed the diagnosis of MIH. Data were analyzed by descriptive statistics and Fischer's exact test (α=0.05). RESULTS: Of the 80 participants, ten presented MIH with eight individuals with CD. Celiac patients presented 4.75 times the chance of occurrence of MIH than the control group (95% CI: 2.22-10.18; P=0.044). In all the evaluated teeth (n=978), 22 had MIH: 20 teeth in individuals with CD and two in those without the disease. All CD participants with MIH presented the classic form of the disease. CD participants showed 17 teeth (85.0%) with demarcated opacities, two (10.0%) post-eruptive collapses and one (5.0%) atypical restoration. The control group presented only demarcated opacities. CONCLUSION: CD increased the chance of MIH and associated with its clinical manifestations can assist in the diagnosis of CD.

RESUMO CONTEXTO: A hipomineralização de molares e incisivos (HMI) é um defeito de desenvolvimento de esmalte com etiologia multifatorial. Embora a relação entre doença celíaca (DC) e defeito de desenvolvimento de esmalte já tenha sido demonstrada, a associação entre DC e HMI ainda é incerta. OBJETIVO: O objetivo deste estudo foi analisar a ocorrência de HMI em pacientes com DC. MÉTODOS: Foram selecionados 40 pacientes com DC e um grupo controle com 40 indivíduos sem a doença. O diagnóstico da HMI foi realizado por examinador calibrado (k≥0,889) segundo critérios da Academia Europeia de Odontopediatria. Dados foram analisados por estatística descritiva e teste exato de Fischer (α=0,05). RESULTADOS: Dos 80 participantes, 10 apresentaram HMI sendo 8 indivíduos com DC. Pacientes celíacos apresentaram 4,75 vezes a chance de ocorrência de HMI que grupo controle (IC 95%: 2,22-10,18; P=0,044). No total dos dentes avaliados (n=978), 22 apresentaram HMI: 20 dentes em indivíduos com DC e 2 entre aqueles sem a doença. Todos os participantes com DC e portadores de HMI apresentavam a forma clássica da doença. Participantes com DC mostraram 17 (85,0%) dentes com opacidades demarcadas, 2 (10,0%) colapsos pós-eruptivos e 1 (5,0%) restauração atípica. Grupo controle apresentou apenas opacidades demarcadas. CONCLUSÃO: DC aumentou a chance de HMI e associada a manifestações clínicas da DC pode auxiliar no diagnóstico da doença.

Seroprevalencia poblacional de la enfermedad celiaca en zonas urbanas del Perú / Population seroprevalence of celiac disease in urban areas of Peru

RESUMEN El objetivo del estudio fue determinar la seroprevalencia de la enfermedad celiaca (EC) en zonas urbanas del Perú, utilizando una muestra de base poblacional. Se tamizó una muestra aleatoria de mujeres y varones de 18 a 29 años de 26 ciudades del Perú. Para la detección de la EC se utilizó el kit anti-transglutaminasa tisular IgA. Los resultados mayores a 20 AU/ml fueron considerados positivos. La prevalencia ponderada de la EC fue de 1,2% (IC 95%: 0,0‒2,4) y se estima que el número de personas viviendo con EC en el Perú fue de 341 783. La prevalen cia de la EC en el Perú resultó ser similar al promedio mundial.

ABSTRACT The objective of the study was to determine the seroprevalence of celiac disease (CD) in urban areas of Peru using a population-based sample. A random sample of women and men 18 to 29 years old from 26 cities in Peru was screened. An anti-tissue transglutaminase IgA kit was used for the detection of CD. Results higher than 20 AU / ml were considered positive. The weighted prevalence of celiac disease was 1.2% (CI 95%: 0.0% - 2.4%), thus the estimated number of people living with CD in Peru was 341,783. CD prevalence in Peru is similar to the world average.

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.

Sensibilidad al gluten no celíaca / Non-celiac Gluten sensitivity

Introducción: La sensibilidad al gluten no celíaca es una afección emergente descrita en la última década, mediada por mecanismos inmunes, sin reconocido marcador serológico. Objetivo: Actualizar los conocimientos sobre esta condición, patogenia, diagnóstico y tratamiento. Métodos: Se revisaron las publicaciones en español e inglés en bases de datos de Google académico, PubMed, Scielo y Latindex desde el 2014 hasta el 20 agosto 2018. Resultados: Se trata de una afección no alérgica ni autoinmune. Se analiza su repercusión en niños y adultos. La epidemiología no está establecida, su presencia varía entre 6-10 por ciento, con predominio femenino/masculino 3:1. Se revisaron los criterios sobre la patogenia relacionados con las prolaminas de cereales tóxicos, carbohidratos de cadena corta fermentable e inhibidores de amilasa y tripsina. Se evaluaron los síntomas clínicos (intestinales y extraintestinales) y analizaron los argumentos del diagnóstico definitivo y diferencial con otras enfermedades desencadenadas por gluten. La dieta sin gluten representa la única opción terapéutica. Los síntomas desaparecen con su supresión y reaparecen con su reintroducción. Consideraciones finales: La sensibilidad al gluten no celíaca es una entidad de nueva aparición con participación de procesos inmunes y patogenia sustentada por distintos mecanismos con síntomas intestinales y extraintestinales relacionados con consumo de gluten. El diagnóstico no debe ser por exclusión del gluten, sino evaluación clínica, pues no existe diagnóstico serológico. Hay otras afecciones con similares manifestaciones como enfermedad celíaca, alergia al gluten, síndrome intestino irritable y enteritis linfocítica, con las que se debe hacer diagnóstico diferencial(AU)

Introduction: Non-celiac gluten sensitivity (SGNC, by its acronyms in Spanish) is an emerging condition of the last decade, which is mediated by immune mechanisms without a recognized serological marker. Objective: To update knowledge on SGNC, its pathogenesis, diagnostic and treatment. Methods: Publications in Spanish and English were reviewed in Google scholar, PubMed, SciELO and Latindex databases from 2014 to August 20, 2018. Results: Information about the description of SGNC as a non-allergic or autoimmune condition and impact on children and adults is updated. Epidemiology is not established, although recent studies report that it varies between 6 to 10 percent, with predominance of female / male 3:1. The criteria for the pathogenesis related to the prolamines of toxic cereals, fermentable short chain carbohydrates (FODMAPs) and amylase and trypsin inhibitors are reviewed. The clinical symptoms (intestinal and extraintestinal) were evaluated and it was analyzed the argument established for the diagnosis of certainty and differential with other diseases triggered by gluten, especially celiac disease. The gluten-free diet represents the only treatment option. The symptoms disappear with gluten suppression and reappear when re-introducing it. Final Considerations: SGNC is a new entity mediated by an immune mechanism with pathogenesis supported by different mechanisms with intestinal and extra intestinal symptoms related to gluten consumption. The diagnosis should not be by exclusion of foods that contain gluten, but by clinical evaluation since there is not serological diagnosis. To know better on it is of interest due to other conditions, such as celiac disease, gluten allergy, irritable bowel syndrome and lymphocytic enteritis, which should be made by differential diagnosis(AU)

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.

The effect of gluten-free diet among celiac patients aged 3-12 years old on BMI during 2006 to 2014 at Nemazee Teaching hospital / El efecto de la dieta libre de gluten en pacientes celiacos de 3 a 12 años en su índice de masa corporal desde el 2006 al 2014 en el hospital universitario de Nemazee

Introduction: Celiac disease (CD) is increasingly diagnosed and weight changes are common after adoption of a gluten- free diet (GFD) and there is concern that patients might gain further weight on a GFD. Objectives: This study examined to evaluate the impact of a GFD on the body mass index (BMI), whether favorable or unfavorable. Materials and methods: In this retrospective study, we reviewed electronic records of 44 patients with serologic study and intestinal biopsy confirmed CD who was visited in Nemazee hospital, Shiraz. All patients were put on GFD for 2 years and followed closely by pediatric gastroenterologist. BMIs were categories to four group underweight, normal weight, overweight and obese. Initial BMI and follow-up BMI was comparing together and also compared with general population. Result: At diagnosis, 27.27% of subjects were underweight, 63.64% normal and 9.09% were obese. On a GFD, 66.66% of underweight patients gained weight and became normal weight and 25% of normal weight and 75% of obese patients had increase weight; and the rest of the patients, BMI remained stable. The follow-up BMIs were statistically higher than initial BMIs (mean 17.17 vs. 15.62, p <0.0001). Conclusion: Individuals with celiac disease have lower BMI than the regional population at diagnosis. On the GFD, BMI is increased significantly in all categories

Introducción: La enfermedad celiaca está siendo cada vez más diagnosticada y los cambios en el peso corporal son comunes después de ponerlos en una dieta libre de Gluten (DLG) y hay preocupación de que sigan ganando peso con esta dieta. Objetivos: Este estudio evalúa el impacto de la DLG en el índice de masa corporal (IMC) ya sea este favorable o desfavorable. Materiales y métodos: En este estudio retrospectivo se revisaron las historias de 44 pacientes con estudio serológico y biopsia intestinal confirmatorios de enfermedad celiaca que llegaron al hospital en Nemazee en Shiraz. A todos los pacientes se les puso en una DLG por 2 años y fueron seguidos por un gastroenterólogo pediatra. El IMC fue dividido en cuatro categorías, peso bajo, normal, sobrepeso y obesos. El IMC inicial y su seguimiento fueron comparados también con la población general. Resultados: Al momento del diagnóstico, el 27,27% estaban con bajo peso, el 63,64% con peso normal y el 9,09% eran obesos. En una DLG, el 66,66% de los pacientes con bajo peso llegaron a su peso normal y el 25% de los de peso normal y el 75% de los obesos también ganaron peso. Esta variación de IMC fue estadísticamente significativa (media 17,17 vs. 15,62, p <0,0001). El resto de los pacientes permaneció con su IMC estable. Conclusión: Las personas con enfermedad celiaca tienen el IMC más bajo que la población de la región al momento del diagnóstico. Puestas en la DLG, el IMC aumenta significativamente en todas las categorías

Enfermedad celíaca, sensibilidad no celíaca al gluten y alergia al trigo: comparación de patologías diferentes gatilladas por un mismo alimento / Celiac disease, non celiac gluten sensitivity and wheat allergy: comparison of 3 different diseases triggered by the same food

El gluten y otras proteínas relacionadas del trigo, centeno y cebada, tienen propiedades antigénicas que pueden desencadenar reacciones adversas en individuos susceptibles. La enfermedad celíaca fue la primera patología en que se estableció relación causal con estas proteínas alimentarias. Recientemente se han descrito la alergia al trigo y la sensibilidad no celíaca al gluten. Si bien sus formas de presentación clínica y su relación con la ingesta pueden ser similares, sus mecanismos patogénicos, forma de diagnóstico y tratamiento difieren. Dado que su prevalencia en conjunto es relativamente alta, resulta necesario que los médicos de atención primaria y pediatras se familiaricen con estas patologías, sepan cómo diferenciarlas y enfrentarlas. El objetivo de esta revisión es comparar los principales aspectos de epidemiología, fisiopatología, diagnóstico y tratamiento de estas 3 condiciones.

Gluten and other related proteins of the wheat, rye and barley, have antigenic properties that may trigger adverse reactions in susceptible individuals. Celiac disease was the first pathology with clear causal association related to the intake of these proteins. Recently, wheat allergy and non celiac gluten sensitivity have been described. Although, clinical presentation and its relation with protein ingestion may be similar and elicit confusion, their pathogenic mechanism, diagnosis and treatment are quite different. Since the prevalence of these diseases is relatively high as a whole, it is essential that these become familiar to primary care doctors and general pediatricians, thus they will know how to differentiate and face them. The aim of this review is to compare the main aspects of epidemiology, pathofisiology, diagnosis and treatment of these 3 conditions.

Prevalence of genetic susceptibility for celiac disease in blood donors in são paulo, brazil / Prevalência da predisposição genética para doença celíaca nos doadores de sangue em São Paulo, Brasil

ABSTRACT Background Celiac disease is a permanent intolerance induced by gluten, which is expressed by T-cell mediated enteropathy, and has a high prevalence in the general population. There is evidence of a strong genetic predisposition to celiac disease. Objective To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and measure human recombinant tissue transglutaminase antibody IgA class in HLA-DQ2 and HLA-DQ8 positive donors. Methods A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Information regarding diarrhea, constipation and abdominal pain in the last 3 months was collected. Determination of HLADQ2 and HLADQ8 alleles was performed in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who presentedDQ2 and/or DQ8. Results HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects. Positive samples were associated with alleles DR3, DR4, DR7, DR11 and DR12. The most frequent genotype was DR4-DQ8, which was present in 13.6% of samples, followed by genotypes DR3-DQ2 and DR7-DQ2 with DQB1*02 in heterozygous, which were present in 10.4% and 8.7%, respectively. Eleven out of 198 positive donors (5%) were positive to human tissue transglutaminase test. Conclusion We observed a high prevalence of genetic markers for celiac disease, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, similar to prevalence described in Europe. These findings show that the prevalence of celiac disease should not be rare in our country, but underdiagnosed.

RESUMO Contexto A doença celíaca é uma enteropatia imuno mediada causada pela intolerância permanente induzida pelo glúten, que se expressa por enteropatia mediada por linfócitos T, e possui uma alta prevalência na população geral. Há evidências de forte predisposição genética para doença celíaca. Objetivo Determinar a prevalência dos marcadores genéticos HLA-DQ2 e HLA-DQ8 em doadores de sangue da cidade de São Paulo e realizar rastreamento sorológico para doença celíaca com anticorpo antitransglutaminase tissular recombinante humana de classe IgA naqueles doadores de sangue com genotipagem HLA-DQ2 e HLA-DQ8 positivos. Métodos Estudo transversal prospectivo em que participaram 404 doadores de sangue, residentes na cidade de São Paulo e Jundiaí. A determinação dos alelos HLADQ2 e HLADQ8 foi realizada por PCR multiplex e alelo específico em todos os participantes do estudo e o anticorpo antitransglutaminase tissular recombinante humana de classe IgA e dosagem sérica de IgA foi realizada apenas nos doadores de sangue que possuíam DQ2 e/ou DQ8 positivo. Resultados O HLADQ2 e/ou DQ8 foi positivo em 49% (198/404) dos indivíduos, destes, 11 (5%) apresentaram anticorpo antitransglutaminase tissular humana positivo. Conclusão Podemos concluir que a prevalência dos marcadores genéticos para doença celíaca, HLA-DQ2 e DQ8 em São Paulo, mostrou-se elevada e similar à encontrada na Europa, assim como foi elevada a soroprevalênca para doença celíaca nos doadores de sangue com presença HLA-DQ2 e DQ8. Estes achados permitem afirmar que a prevalência da doença celíaca não deve ser rara em São Paulo, mas sim subdiagnosticada.

Inmunodeficiencia variable común y déficit selectivo de inmunoglobulina A en pacientes celiacos / Common variable immunodeficiency and selective IgA deficiency in celiac disease patients

La enfermedad celíaca (EC) es una de las enfermedades autoinmunes gastrointestinales que con más frecuencia se asocia a inmunodeficiencias primarias (IDP) como el déficit selectivo de IgA y la inmunodeficiencia variable común (IDVC). A propósito del vínculo entre IDP y celiaquía, se presentan dos pacientes femeninas diagnosticadas como celíacas con formas de presentación diferentes y compromiso inmunonutricional variable. Las bajas concentraciones de inmunoglobulina G (IgG) y la ausencia de IgA fueron los principales hallazgos humorales registrados, no se evidenció compromiso de células B y T, de acuerdo a la cuantificación de subpoblaciones linfoides por citometria de flujo. La intervención nutricional e inmunológica permitió la remisión de las manifestaciones clínicas y la evolución satisfactoria en ambos casos(AU)

Celiac disease (CD) is an autoimmune gastrointestinal disease very often associated with Primary Immunodeficiencies (PID) as selective IgA deficiency and variable immunodeficiency common. About the link between celiac disease IDP, two female patients diagnosed as celiac patients with different forms of presentation and varying commitment immunonutritional presented. Low levels of immunoglobulin G (IgG) and absence of immunoglobulin A (IgA) were the main humoral findings recorded, no commitment of B and T cells, according to the quantification of lymphoid subpopulations by flow cytometry. Nutritional and immunological intervention allowed remission of clinical manifestations and satisfactory outcome in both cases(AU)

Frecuencia de anticuerpos anti-transglutaminasa y antiendomisio en pacientes con diabetes tipo 1 / Association of type 1 diabetes mellitus with celiac disease

Background: Type 1 diabetes mellitus and celiac disease share common genetic and immunological aspects and celiac disease is more common among type 1 diabetic patients. Aim: To determine the frequency of anti endomysial and anti transglutaminase antibodies among patients with type 1 diabetes. Material and Methods: Anti endomysialantibodies determined by indirect immunofluorescence an anti transglutaminase antibodies determined by ELISA were measured in 410 serum samples of patients with type 1 diabetes. Results: Seventy one samples (17 percent) had positive anti transglutaminase antibodies. Among these, 17 had also positive anti endomysial antibodies. In 11 of these 17 patients, the presence of celiac disease was confirmed. Conclusions: Among patients with type 1 diabetes mellitus, the frequency of celiac disease is three times higher than in the general population.

THE PREVALENCE OF CELIAC DISEASE IN PATIENTS WITH IRON-DEFICIENCY ANEMIA IN CENTER AND SOUTH AREA OF IRAN

Background - Celiac disease is an immune-mediated enteropathy due to a permanent sensitivity to gluten in genetically susceptible people. Iron-deficiency anemia is the most widely experienced anemia in humans. Iron-deficiency anemia additionally is a common extra intestinal manifestation of celiac disease. Objective - To investigate correlation between tTg levels and histological alterations and then to determine the prevalence of celiac disease in Center and South area patients of Iran with iron deficiency anemia. Methods - A total of 402 patients aged 12-78 years who presented with iron-deficiency anemia were included in this study. Hemoglobin, mean corpuscular volume and serum ferritin were determined. Venous blood samples for anti-tissue transglutaminase antibody immunoglobuline A and G were obtained from these patients. Upper gastrointestinal endoscopy was recommended to patients who had positive serology. Results - Of 402 patients with iron-deficiency anemia, 42 (10.4%) had positive serology for celiac disease. The small intestine biopsy of all patients with positive serology showed pathological changes (Marsh I, II & III). There was not significant difference in the mean hemoglobin level between iron-deficiency anemia patients with celiac disease and without celiac disease, duodenal biopsy results did not show significant relationship between the severity of pathological changes and levels of anti-tTG IgG (P -value: 0/869) but significant relationship was discovered between pathological changes and levels of anti-tTG IgA (P -value: 0/004). Conclusion - Screening of celiac disease by anti-tissue transglutaminase antibody should be completed as a routine investigation in patients with iron-deficiency anemia. Also physicians must consider celiac disease as a possible reason of anemia in all patients with iron deficiency anemia.

Contexto - A doença celíaca é uma enteropatia imunomediada, devido a uma sensibilidade permanente ao glúten em pessoas geneticamente suscetíveis. A anemia por deficiência de ferro é a anemia mais frequente em seres humanos e, além disso, é uma manifestação extra intestinal comum da doença celíaca. Objetivo - Investigar a correlação entre níveis de imunoglobulina de anticorpos anti-transglutaminase tissular A (anti-tTG IgA) e G (IgG anti-tTG) e alterações histológicas e, em seguida, determinar a prevalência de doença celíaca no Centro e Sul do Irã em pacientes com anemia por deficiência de ferro. Métodos - Foram incluídos neste estudo um total de 402 pacientes com idades entre 12-78 anos, que apresentavam anemia por deficiência de ferro. Hemoglobina, volume corpuscular médio e ferritina sérica foram determinados. Amostras de sangue venoso para imunoglobulina de anti-tTG IgA e IgG anti-tTG foram obtidas nestes pacientes. Endoscopia gastrointestinal foi recomendada para pacientes que tiveram sorologia positiva. Resultados - Dos 402 pacientes com anemia por deficiência de ferro, 42 (10,4%) tiveram sorologia positiva para doença celíaca. A biópsia do intestino delgado de todos os pacientes com sorologia positiva mostrou alterações patológicas (Marsh I, II e III). Não houve diferença significativa no nível de hemoglobina média entre os pacientes com deficiência de ferro com ou sem a doença celíaca. O resultado da biopsia duodenal não mostrou relação significativa entre a gravidade das alterações patológicas e níveis de IgG anti-tTG (P -valor: 0/869), mas descobriu-se relação significativa entre as alterações patológicas e níveis de anti-tTG IgA (P -valor: 0/004). Conclusão - A pesquisa de doença celíaca por dosagem de anticorpo anti-transglutaminase tissular deve ser completada como investigação de rotina em pacientes com anemia por deficiência de ferro. Os clínicos devem considerar a doença celíaca como um possível causa de anemia em todos os pacientes com anemia ferropriva.

COELIAC DISEASE IN CENTRAL AND SOUTH AMERICA: time for a concerted approach to its epidemiology / A doença celíaca na América Central e do Sul: tempo para uma abordagem conjunta sobre sua epidemiologia

Central and South America offer an opportunity to resolve some of the current controversies that surround the epidemiology of celiac disease. Through a concerted action which brings together clinicians, researchers and patients there is an opportunity to establish robust data sets which will allow detailed analysis of environmental and genetic factors. In this review available data from the continent together with data from Spain and Italy are drawn together to give a current picture in the hope that it will stimulate further research. .

A América Central e do Sul oferecem uma oportunidade de resolver algumas das atuais controvérsias que cercam a epidemiologia da doença celíaca. Através de uma ação conjunta reunindo médicos, pesquisadores e pacientes, há a oportunidade para estabelecer conjuntos de dados robustos que permitirão uma análise detalhada dos fatores ambientais e genéticos envolvidos. Nesta revisão, os dados disponíveis a partir do continente, juntamente os da Espanha e da Itália, são descritos em conjunto para dar uma imagem atual, na esperança de que se estimulem novas pesquisas. .

The prevalence ff celiac disease among patients with familial mediterranean fever / Prevalência da doença celíaca entre pacientes com Febre Familiar do Mediterrâneo

Background Familial Mediterranean Fever and celiac disease are both related to auto-inflammation and/or auto-immunity and they share some common clinical features such as abdominal pain, diarrhea, bloating and flatulence. Objectives We aimed to determine the association of these two diseases, if present. Methods Totally 112 patients diagnosed with Familial Mediterranean Fever and 32 cases as healthy control were included in the study. All participants were examined for the evidence of celiac disease, with serum tissue transglutaminase IgA levels (tTG IgA). Results Totally 144 cases, 112 with Familial Mediterranean Fever and 32 healthy control cases were included in the study. tTG IgA positivity was determined in three cases with Familial Mediterranean Fever and in one case in control group. In that aspect there was no significant difference regarding the tTG IgA positivity between groups (P=0.81). Duodenum biopsy was performed to the tTG IgA positive cases and revealed Marsh Type 3b in two Familial Mediterranean Fever cases and Marsh Type 3c in the other one while the biopsy results were of the only tTG IgA positive case in control group was Marsh Type 3b. In HLA evaluation of the celiac cases; HLA DQ2 was present in two celiac cases of the Familial Mediterranean Fever group and in the only celiac case of the control group while HLA DQ8 was present in one celiac case of the Familial Mediterranean Fever group. Conclusions We did not determine an association of Familial Mediterranean Fever with celiac disease. Larger studies with subgroup analysis are warranted to determine the relationship of these two diseases. .

Contexto A Febre Familiar do Mediterrâneo e a doença celíaca são ambas relacionadas com auto-inflamação e/ou auto-imunidade e partilham algumas características clínicas comuns tais como dor abdominal, diarréia, distensão abdominal e flatulência. Objetivo Determinar a associação destas duas doenças, se presente. Métodos Um total de 112 pacientes diagnosticados com Febre Familiar do Mediterrâneo e 32 casos como controle saudável foram incluídos no estudo. Todos os participantes foram examinados para a evidência da doença celíaca, com níveis de IgA séricos transglutaminase (tTG IgA). Resultados Um total de 144 casos, 112 com Febre Familiar do Mediterrâneo e 32 casos controle saudável foram incluídos no estudo. A positividade tTG IgA foi determinada em três casos com Febre Familiar do Mediterrâneo e em um caso no grupo controle. Neste aspecto não há nenhuma diferença significativa em relação a positividade tTG IgA entre os grupos (P= 0,81). Biópsia de duodeno realizado para os casos positivos de tTG IgA e revelou Marsh tipo 3b em dois casos de Febre Familiar e Marsh tipo 3C no outro, enquanto o resultado da biópsia do único caso positivo tTG IgA no grupo controle foi Marsh tipo 3b. Na avaliação de HLA dos casos de doença celíaca, HLA DQ2 esteve presente em dois casos de doença celíacas do grupo Febre Familiar do Mediterrâneo e no caso celíaco do grupo controle, enquanto HLA-DQ8 estava presente em um caso de doença celíaca do grupo Febre Familiar do Mediterrâneo. Conclusão Não se determinou uma associação de Febre Familiar do Mediterrâneo com doença celíaca. Maiores estudos com análise de subgrupo são necessários para determinar a relação entre estas duas doenças. .

Enfermedad celíaca. Una mirada actual / Catching up on celiac disease

Knowledge about celiac disease continues to grow and amaze those who investigate, seek and treat this condition. Gone are the days when it was considered just a rare child's digestive disease. It is now recognized as a highly prevalent autoimmune condition that affects children and adults with digestive and extra-digestive symptoms of diverse intensity, disorder that may be either mono, oligo or asymptomatic from a digestive point of view. Today, it is an underdiagnosed condition, not actively considered, and often mistakes are made regarding its diagnosis, treatment and gluten-free diet monitoring. This article reviews the current definition of the disease, clinical presentations, potential patients, how to search for the disease, how the diagnosis is made and characteristics of the treatment and monitoring of celiac patients, all based on internationally agreed standards, and emphasizing those aspects that have proven to be useful in other countries regarding the management of the disease.

El conocimiento acerca de la enfermedad celíaca continúa creciendo y sorprendiendo a aquellos que la investigan, la buscan y la tratan. Lejos están los tiempos en que se la consideraba una patología digestiva del niño, poco frecuente. Actualmente se la reconoce como una condición autoinmune altamente prevalente, que afecta a niños y adultos, con manifestaciones digestivas y extra digestivas de muy diversa intensidad, pudiendo ser mono, oligo o incluso asintomática desde el punto de vista digestivo. Hoy en día está sub-diagnosticada, no se la busca activamente, se incurren en errores tanto al diagnosticarla como en la indicación del tratamiento y seguimiento de la dieta sin gluten. En este artículo revisamos la definición actual de la enfermedad, las presentaciones clínicas que se le conocen, en quiénes y cómo se debe buscar, como se hace el diagnóstico, y en qué consiste el tratamiento y seguimiento del paciente celíaco, basándonos en los criterios internacionales actualmente consensuados, y poniendo énfasis en aquellos aspectos que han demostrado ser útiles en otros países para mejorar el manejo de la enfermedad.

Prevalence and clinical features of celiac disease in patients with autoimmune thyroiditis: cross-sectional study / Prevalência e características clínicas da doença celíaca em pacientes com tireoidite autoimune: estudo transversal

CONTEXT AND OBJECTIVE: Celiac disease is an autoimmune disorder with an average prevalence of 1% in Europe and the United States. Because of strong European ancestry in southern Brazil, this study aimed to evaluate the seroprevalence of celiac disease among autoimmune thyroiditis patients. DESIGN AND SETTING: Cross-sectional study in a public university hospital. METHODS: This cross-sectional prevalence study included autoimmune thyroiditis patients who were tested for anti-endomysial and anti-transglutaminase antibodies between August 2010 and July 2011. RESULTS: Fifty-three patients with autoimmune thyroiditis were included; 92.5% were women, with mean age of 49.0 ± 13.5 years. Five patients (9.3%) were serologically positive for celiac disease: three of them (5.6%) were reactive for anti-endomysial antibodies and two (3.7%) for anti-transglutaminase. None of them exhibited anemia and one presented diarrhea. Endoscopy was performed on two patients: one with normal histology and the other with lymphocytic infiltrate and villous atrophy. CONCLUSION: The prevalence of celiac disease among patients with autoimmune thyroid disease was 9.3%; one patient complained of diarrhea and none presented anemia. Among at-risk populations, like autoimmune thyroiditis patients, the presence of diarrhea or anemia should not be used as a criterion for indicating celiac disease investigation. This must be done for all autoimmune thyroiditis patients because of its high prevalence. .

CONTEXTO E OBJETIVO: A doença celíaca é uma doença autoimune, com prevalência média de 1% na Europa e nos Estados Unidos. Em função da forte ascendência europeia no sul do Brasil, este estudo objetiva relatar a soroprevalência de doença celíaca em indivíduos com tireoidite autoimune. TIPO DE ESTUDO E LOCAL: Estudo transversal em um hospital público universitário. MÉTODOS: Este estudo transversal de prevalência incluiu pacientes com tireoidite autoimune que foram submetidos a testes de anticorpos antiendomísio e antitransglutaminase entre agosto de 2010 e julho de 2011. RESULTADOS: Foram incluídos 53 pacientes com tireoidite autoimune, 92,5% mulheres, com idade média de 49,0 ± 13,5 anos. Cinco (9,3%) pacientes apresentaram sorologia positiva para doença celíaca, sendo três (5,6%) com anticorpo antiendomísio positivo e dois (3,7%) com antitransglutaminase positivo. Nenhum paciente apresentou anemia e um apresentou diarreia. Apenas dois pacientes realizaram endoscopia: um com histologia normal e outro apresentou infiltrado linfocitário e atrofia vilositária. CONCLUSÕES: A prevalência de doença celíaca entre pacientes com doença autoimune da tireoide foi de 9,3%; um paciente queixou-se de diarreia e ninguém apresentou anemia. Em populações de risco, como é o caso de pacientes com tireoidite autoimune, a presença de diarreia ou anemia não devem ser utilizados como critério para indicar investigação de doença celíaca, que deve ser feita em todos os indivíduos com tireoidite autoimune devido a sua alta prevalência. .