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CONTEXT: Anti-Saccharomyces cerevisiae antibodies (ASCA), considered serologic markers for Crohn's disease, were described in patients with celiac disease, disappearing after a gluten-free diet. OBJECTIVES: Evaluation of ASCA positivity in patients with Crohn's disease and celiac disease in relation to healthy individuals. METHODS: A total of 145 individuals were studied: 36 with Crohn's disease and 52 with celiac disease, that fulfilled the diagnostic criteria for both affections, and 57 healthy individuals for control. The celiac patients were divided as follow: group CeD I at diagnosis (n = 34), group CeD II with gluten-free diet compliance (n = 13) and group CeD III with transgressions to the diet (n = 5). ASCA IgA and IgG were determined by ELISA. RESULTS: With statistical significance, ASCA IgA were positive in Crohn's disease, celiac disease at diagnosis and celiac disease with diet transgressions; ASCA IgG in Crohn's disease and in all groups with celiac disease. CONCLUSIONS: The detection of ASCA in patients with celiac disease allows to suggest that ASCA is not a specific marker for Crohn's disease, but was associated with the inflammation of the small intestine. The increased levels of positive ASCA may be due to genetic factors and increased intestinal permeability.RACIONAL: Anticorpos anti-Saccharomyces cerevisiae antibodies, considerados marcadores sorológicos para a doença de Crohn, foram descritos em pacientes com doença celíaca, desaparecendo após dieta isenta de glúten. OBJETIVOS: Avaliação da positividade de anti-Saccharomyces cerevisiae antibodies em pacientes com doença de Crohn e doença celíaca, em relação a indivíduos sadios da mesma área geográfica. MÉTODOS: Foram estudados 145 pacientes, 36 com doença de Crohn e 52 com doença celíaca que preencheram os critérios diagnósticos para ambas as afecções, e 57 indivíduos sadios para controle. Os pacientes celíacos foram divididos como segue: ao diagnóstico (grupo doença celíaca I: n = 34), obedientes à dieta isenta de glúten (grupo doença celíaca II: n = 13) e não-aderentes à dieta isenta de glúten (grupo doença celíaca III: n = 5). Anti-Saccharomyces cerevisiae antibodies IgA e IgG foram determinados por ELISA. RESULTADOS: Anti-Saccharomyces cerevisiae antibodies IgA foi positivo na doença de Crohn, nos celíacos ao diagnóstico e nos transgressores à dieta, com significado estatístico. Anti-Saccharomyces cerevisiae antibodies IgG foi positivo na doença de Crohn e em todos os grupos de celíacos, com significado estatístico. CONCLUSÕES: A detecção de anti-Saccharomyces cerevisiae antibodies em pacientes com doença celíaca permite sugerir que o mesmo não seja marcador específico para a doença de Crohn, mas que esteja associado à inflamação do intestino delgado. A positividade de anti-Saccharomyces cerevisiae antibodies pode ser decorrente de fatores genéticos e aumento da permeabilidade intestinal.

RACIONAL: A doença celíaca representa, na atualidade, a doença intestinal mais comum em populações caucasóides e apresenta prevalência que varia de 8% a 18% nos familiares dos pacientes. A pesquisa dos anticorpos anti-endomísio (EmA-IgA) e antitransglutaminase tecidual (anti-tTG-IgA) constitui importante recurso não-invasivo e sensível de triagem e diagnóstico da doença celíaca em grupos de risco e populações. OBJETIVO: Avaliar a prevalência do EmA e anti-tTG em um grupo de familiares de celíacos e verificar o grau de concordância entre os dois métodos. MÉTODOS: Foram estudados 177 familiares (76(feminino); 101(masculino); 2-79 anos) e 93 indivíduos voluntários e sadios (34 (feminino); 59 (masculino); 2-71 anos) como grupo controle. O EmA foi detectado por imunofluorescência indireta (substrato: cordão umbilical humano) e o anti-tTG pelo método de ELISA (kit comercial). RESULTADOS: A positividade total de anticorpos nos familiares em estudo foi de 21% (37/177), mostrando significativa diferença em relação aos controles (0%; 0/93). Doze por cento (21/177) dos familiares foram positivos para o EmA e 13,56% (24/177) para o anti-tTG, sendo 4,52% (8/177) positivos concomitantemente para os dois anticorpos. A concordância de resultados entre os dois métodos foi de 83,6% (148/177) e a discordância de 16,4% (29/177), caracterizando uma correlação positiva significante (r= 0.435) entre ambos. Dentre os concordantes, 79,1% (140/177) eram negativos para o anti-tTG e EmA, e 4,52% (8/177) positivos para ambos. Nos casos discordantes, 7,34% (13/177) apresentaram EmA positivo e anti-tTG negativo e 9,04% (16/177) eram anti-tTG positivo e EmA negativo. CONCLUSÃO: Embora a alta positividade obtida para o EmA e anti-tTG destaque a importância da triagem sorológica em familiares de pacientes com doença celíaca, as discordâncias detectadas no estudo permitem ressaltar que o uso isolado de um único método pode incorrer em reações falso-negativas. O impacto desse fato implica que tais familiares deixarão de ser submetidos a biopsia intestinal para confirmação do diagnóstico da doença, e conseqüentemente, ao tratamento adequado e precoce.BACKGROUND: Celiac disease is the most common intestinal disorder of caucasian populations and presents a prevalence of 8% to 18% between the relatives of patients. The anti-endomysial (IgA-EmA) and anti-tissue transglutaminase antibodies (IgA-tTG) have represented an important non invasive and sensitivity method of screening and diagnosis of celiac disease in risk groups and populations. AIM: To investigate the prevalence of IgA-EmA and IgA-tTG antibodies in relatives of celiac patients and verify the degree of concordance between them. METHODS: One hundred and seventy seven relatives of celiac patients (76(feminino); 101(masculino); 2-79 years) and 93 healthy individuals were evaluated (34(feminino); 59(masculino); 2-71 years). IgA-EmA were detected by indirect immunofluorescence, with human umbilical cord as substrate, while anti-IgA-tTG titers were measured by enzyme-linked immunosorbent assay (ELISA), using commercial kit. RESULTS: Total positivity to antibodies in relatives of celiac patients was of 21% (37/177), and showed significant difference compared to control group (0%; 0/93). Twelve percent (21/177) of celiac disease relatives were positive to IgA-EmA, 13.56% (24/177) to IgA-tTG, and 4.52% (8/177) to both assays simultaneously. The concordance between both methods was 83.6% (148/177) and the discordance was 16.4% (29/177), with a positive and significant correlation (r = 0.435). Among the concordant results, 79.1% (140/177) were negative and 4.52% (8/177) were positive to both antibodies. Among the discordant results, 7.34% (13/177) were positive to IgA-EmA and negative to IgA-tTG, while 9.04% (16/177) were negative to IgA- EmA and positive to IgA-tTG. CONCLUSION: Although the high positivity to IgA-EmA and IgA-tTG emphasizes the importance of the serological screening in relatives of celiac patients, the discordances detected in this study showed that the use of only one method can lead to false negative results. Consequently these relatives will not be submitted to intestinal biopsy to confirm the diagnosis of celiac disease, and to the correct and earlier treatment.

RACIONAL: A doença celíaca ou enteropatia por sensibilidade ao glúten, é uma forte condição hereditária. Embora a associação genética da doença celíaca com os haplótipos HLA-DQ2 e DQ8 seja conhecida há muito tempo, outros genes HLA e não-HLA também são importantes no desenvolvimento da afecção. A doença celíaca resulta de um efeito combinado de produtos de diferentes genes funcionantes normalmente. A lesão intestinal é imunologicamente mediada e múltiplos mecanismos efetores são responsáveis pela sua expressão. A interação entre fatores genéticos, imunológicos e ambientais explicam o amplo espectro de alterações clínicas, histológicas e sorológicas observadas nos diferentes estágios de desenvolvimento da doença, ressaltando a natureza poligênica da mesma. CONCLUSÃO: Os avanços recentes na compreensão da imunopatogenia, genética e diagnóstico da doença celíaca têm permitido que rígidos conceitos e critérios pré-estabelecidos sejam revistos e adequados às novas evidências, visando melhor diagnóstico e orientação para pacientes celíacos e familiares.BACKGROUND: Celiac disease, or gluten-sensitive enteropathy, is a strongly inherited condition. Although the genetic association of CD with the DQ2 and DQ8 HLA haplotypes has been known for long, others HLA and non-HLA genes are also important in the development of the disease. Celiac disease results of the combined effect of different normally functioning genes' products. The tissue damage in celiac disease is immunologically mediated and several effector mechanisms are responsible for the disease expression. The interplay between genetic, immunological and environmental factors explains the large spectrum of clinical, histological and serological alterations observed in the different stages of the disease development, pointing out to the polygenic nature of celiac disease. CONCLUSION: The recent advances in the understanding of the immunopathogenesis, genetics and diagnoses of celiac disease have allowed the revision of strict concepts and previous criteria and their adequation to the new evidences, aiming a better diagnostic and orientation to celiac patients and relatives.

Background — Literature data have shown high specificity of antiendomysial antibodies (EmA IgA) in celiac disease. The scarcity of Brazilian reports concerning this subject motivated the present study. Objectives - To determine the sensitivity and specificity of antiendomysial IgA antibodies in Brazilian celiac patients at diagnosis and after treatment, to confirm patient adherence to a gluten-free diet and to screen first-degree relatives. Methods - An extensive clinical and serological study was performed by investigating the presence of these antibodies in 392 individuals from Southern Brazil. Indirect immunofluorescence using human umbilical cord as substrate was employed and the total levels of IgA were determined by turbidimetry in all groups. The study was conducted on 57 celiac patients (18 at diagnosis, 24 who adhered to a gluten-free diet and 15 with marked or slight transgression of the diet), 115 relatives of celiac patients (39 families), 94 patients with other gastrointestinal diseases, and 126 healthy individuals from the general population. Results - The results demonstrated 100% positivity for the recently diagnosed patients and for those consuming gluten, in contrast to the patients who complied with the diet (0%). In the control group one individual was positive, but refused to undergo a biopsy. In the group of other gastrointestinal diseases, one positive patient presented ulcerative colitis, Down's syndrome and epilepsy, and the intestinal biopsy was diagnostic for celiac disease. These data showed 99.3% specificity for the test. Eighteen relatives were positive for antiendomysial antibodies IgA (15.65%), and comparison with the healthy population revealed a significant difference. An intestinal biopsy was obtained from seven subjects (one with total villous atrophy and six withouth alterations in the mucosal architecture, but all with a high number of intra-epithelial lymphocytes). Conclusions - The method revealed 100% sensitivity and 99.3% specificity. Because it is not an invasive method it can be used for the screening of atypical and latent forms of celiac disease to avoid serial biopsies and to control adherence to a gluten-free diet with implications in the prevention of malignancy in celiac disease.

Sensibilidade ao glúten é um estado de elevada resposta iamunológica (celular e humoral) à ingestão de proteínas do glúten do trigo, centeio, cevada e aveia, em indivíduos geneticamente predispostos. A doença celíaca é sua expressão mais freqüente, variando as formas de apresentação. Tem como tratamento a exclusão de alimentos contendo as gliadinas tóxicas. Embora a biopsia do intestino delgado proximal seja necessária, tem-se ressaltado a importância de testes sorológicos no rastreamento, diagnóstico e monitorização da dieta isenta de glúten em pacientes com doença celíaca. O objetivo do presente estudo foi investigar a presença dos anticorpos antiendomísio (EmA-IgA) e anti-reticulina (ARA-IgA) em 56 pacientes celíacos (17 recém diagnosticados; 24 aderentes à dieta; 15 com transgressão à dieta). Os anticorpos foram detectados por imunofluorescência indireta, utilizando como substrato cordão umbilical humano para os EmA-IgA, fígado e rim de rato para os ARA-IgA. Nos pacientes recém diagnosticados e no grupo com transgressão à dieta houve positividade total de 100% para os EmA-IgA e 59,4% para ARA-IgA. Nos pacientes aderentes à dieta nenhum dos anticorpos foi detectado. Dentre os 32 pacientes positivos, a concordância foi de 59,4% (19), sendo que 40,6 % (13/32) eram ARA-IgA negativo e EmA-IgA positivo. Nenhum paciente mostrou-se positivo para os ARA-IgA e negativo para os EmA-IgA. Portanto, a sensibilidade para os EmA-IgA foi de 100% e de 59,4% para os ARA-IgA. A associação dos dois testes não aumentou os índices de positividade total nas amostras. Conclui-se que, atualmente, a pesquisa dos EmA-IgA pode constituir teste sorológico de escolha, seja para diagnóstico, seja para seguimento dos pacientes celíacos, pelo alto valor preditivo, alta sensibilidade e especificidade e relativo baixo custo quando se utiliza cordão umbilical humano como substrato.Sensibility to gluten is a condition with high immunological reaction against gluten proteins from wheat, barley, rye and oats in individuals genetically susceptible. Celiac disease is its most frequent expression with various forms of clinical presentation. The treatment consists in gluten free diet. Although the biopsy of proximal small bowel is necessary, the importance of serological tests is increasing in the screening, diagnosis and monitoring of gluten free diet in celiac patients. The aim of this study was to investigate the presence of antiendomysium (EmA-IgA) and anti-reticulin (ARA-IgA) antibodies in 56 celiac patients (17 at diagnosis, 24 adherent to the diet and 15 with transgression to the diet). The antibodies were detected by indirect immunofluorescence, using human umbilical cord as substrate for the EmA-IgA and rat liver and kidney for the ARA-IgA. In the patients at diagnosis and in the group with transgression to the diet the total positivity was 100% for EmA-IgA and 59.4% for ARA-IgA. Antibodies were not detected in gluten-free diet patients. Among the 32 positive patients, the concordance of both tests was of 59.4% (19/32), being 40,6% (13/32) negative to ARA-IgA and positive to EmA-IgA. No patient was positive for ARA-IgA and negative for EmA-IgA. Thus, the sensitivity for EmA-IgA was of 100% and 59,4% for ARA-IgA. The association of the two tests did not improve the positivity in the samples. In conclusion, EmA-IgA can be considered the best serological test for diagnosis and follow up of celiac patients, because it presents high predictive value, high specificity and sensibility and is not expensive if using human umbilical cord as substrate.