Investigation of molecular markers in the diagnosis of refractory coeliac disease in a large patient cohort

Some patients with coeliac disease, despite strict adherence to a gluten-free diet, continue to have significant symptoms and/or a severe small intestinal histological lesion. The term "refractory coeliac disease" (rCD) is used to describe this condition. The purpose of this study was to investigate the value of tissue molecular markers reported to help in the diagnosis of rCD.

Prevalencia de enfermedad celiaca en Latinoamérica: revisión sistemática de la literatura y meta-análisis

Introducción: La enfermedad celiaca (EC) es una enfermedad autoinmune (EA) intestinal desencadenada por la ingesta de gluten. Por la falta de información de la presencia de EC en Latinoamérica (LA), nosotros investigamos la prevalencia de la enfermedad en esta región utilizando una revisión sistemática de la literatura y un meta-análisis. Métodos y resultados: Este trabajo fue realizado en dos fases: La primera, fue un estudio de corte transversal de 300 individuos Colombianos. La segunda, fue una revisión sistemática y una meta-regresión siguiendo las guías PRSIMA. Nuestros resultados ponen de manifiesto una falta de anti-transglutaminasa tisular (tTG) e IgA anti-endomisio (EMA) en la población Colombiana. En la revisión sistemática, 72 artículos cumplían con los criterios de selección, la prevalencia estimada de EC en LA fue de 0,46% a 0,64%, mientras que la prevalencia en familiares de primer grado fue de 5,5 a 5,6%, y en los pacientes con diabetes mellitus tipo 1 fue de 4,6% a 8,7% Conclusión: Nuestro estudio muestra que la prevalencia de EC en pacientes sanos de LA es similar a la notificada en la población europea.

Dermatoses bolhosas auto-imunes

Autoimmune bullous dermatoses are diseases in which blisters and vesicles are the primary and fundamental types of skin lesion. Their classification is based on the location of the blister: intraepidermal and subepidermal. Patients produce autoantibodies against self-specific structures of the skin detectable by immunofluorescence techniques, immunoblotting and ELISA. Recent advances in molecular and cellular biology have brought to knowledge these self-antigens, against which patients are sensitized, and which are found in epidermis or in the dermo-epidermal junction. These are low incidence, but high morbidity diseases that may be fatal. The aim of this article is to review and describe the progress of four autoimmune vesiculobullous disorders: endemic pemphigus foliaceous (wild fire), pemphigus vulgaris, bullous pemphigoid and dermatitis herpetiformis. ©2009 by Anais Brasileiros de Dermatologia.

Organ-specific autoantibodies and autoimmune diseases in juvenile systemic lupus erythematosus and juvenile dermatomyositis patients

Objectives To our knowledge, no study assessed simultaneously a variety of organ-specific autoantibodies and the prevalence of organ-specific autoimmune diseases in juvenile systemic lupus erythematosus (ISLE) and juvenile dermatomyositis (JDM). Therefore, the purpose of this study was to evaluate organ-specific autoantibodies and autoimmune diseases in JSLE and JDM patients. Methods Forty-one JSLE and 41 JDM patients were investigated for autoantibodies associated with autoimmune hepatitis, primary biliary cirrhosis, type I diabetes mellitus (TIDM, autoimmune thyroiditis (AT), autoimmune gastritis and coeliac disease (CD). Patients with positive antibodies were investigated for the respective organ-specific autoimmune diseases. Results Mean age at diagnosis was higher in ISLE compared to JDM patients (10.3 +/- 3.4 vs. 7.3 +/- 3.1 years, p=0.0001). The frequencies of organ-specific autoantibodies were similar in JSLE and JDM patients (p>0.05). Of note, a high prevalence of TIDM and AT autoantibodies was observed in both groups (20% vs. 15%, p=0.77 and 24% vs. 15%, p=0.41; respectively). Higher frequencies of ANA (93% vs. 59%, p=0.0006), anti-dsDNA (61% vs. 2%, p<0.0001), anti-Ro, anti-Sm, anti-RNP, anti-La and IgG-aCL were observed in JSLE (p<0.05). Organ-specific autoimmune diseases were evidenced only in ISLE patients (24% vs. 0%, p=0.13). Two ISLE patients had TIDM associated with Hashimoto thyroiditis and another had subclinical thyroiditis. Another JSLE patient had CD diagnosis based on iron deficiency anaemia, anti-endomysial antibody, duodenal biopsy compatible to CD and response to a gluten-free diet. Conclusions Organ-specific diseases were observed solely in ISLE patients and required specific therapy. The presence of these antibodies recommends the evaluation of organ-specific diseases and a rigorous follow-up.

Effect of incorporation of amaranth on the physical properties and nutritional value of cheese bread

At the present celiac disease has no known cure, and its only treatment is a strict lifelong adherence to a gluten-free diet. Cheese bread is a traditional Brazilian product and a safe option for celiacs. However, like other gluten-free breads, it has inherent low levels of fibers and minerals. The objective of this study was to evaluate the effect of incorporation of whole amaranth flour on the physical properties and nutritional value of cheese bread. Amaranth flour was incorporated at 10, 15, and 20% proportions in different formulations. The increasing amaranth levels darkened the product, reduced specific volume, and increased compression force. Ten percent amaranth-content cheese breads exhibited slight differences in physical properties compared with the controls. These results demonstrated the possibility of incorporating 10% of whole amaranth flour in the formulation of cheese bread resulting in a product with higher dietary fiber and iron contents and the same level of acceptance as that of the conventional formulation. The aim of this approach is to increase the availability of gluten-free bakery products with added nutritional value contributing to increase the variety of the diet of celiac patients.

Testing strategies and follow-up for coeliac disease in a general internal medicine outpatient department from 2000 to 2005

PRINCIPLES: Coeliac disease (gluten sensitive enteropathy) is a genetically determined disorder with an incidence in the general population that is comparable to type 2 diabetes mellitus. Awareness of this fact and of the often atypical and oligosymptomatic manifestations is only now gaining ground in the medical profession. A high index of suspicion is important in order to minimise diagnostic and therapeutic delay. METHODS: Testing patterns and follow-up for coeliac disease in our institution have been analysed retrospectively for the past five years. The current literature was reviewed with respect to recommendations for clinical practice. RESULTS: A total of 271 patients were tested for coeliac disease over a period of five years. Only in 24 patients were positive results found; after further work-up, the final number of cases with certain or presumed coeliac disease was four. Followup was often difficult, many patients being lost after a single visit. CONCLUSIONS: This study showed that the number of tests ordered in our institution, more often for abdominal than atypical symptoms, has started to increase in the past two years. It also showed that screening tests have found their place in general clinical practice, while the final choice of tests needs to be determined in accordance with available guidelines and local resources. Upper endoscopy with small bowel biopsy remains the gold standard for diagnosis, but its place in follow-up is less certain. Coeliac disease is a disorder for which there is a definite treatment (gluten free diet); if it is left untreated diminished quality of life and potentially serious complications may ensue. Further education of the medical profession regarding coeliac disease, its incidence, presentation and treatment, is clearly indicated..

[Sun-tanned and still not healthy!]

We describe a case of a 10 years old girl, which presented to the emergency room with non-specific gastro-intestinal symptoms, fatigue and low blood pressure. The clinical signs and laboratory value supported the diagnosis of Addison crisis with hypovolaemic shock. The pathophysiology and the therapy of this entity are discussed. Importantly, in children the aetiology may differ depending on age and sex. Based on the family history of autoimmune disorders, in our patient presenting with autoimmune adrenalitis and celiac disease, the diagnosis of an autoimmune polyendocrinopathy was made. A therapy of mineralcorticoids and glucocorticoids was initiated and a special gluten-free diet was prescribed. On this treatment our patient recovered promptly.

Health-related quality of life and determinant factors in celiac disease. A population-based analysis of adult patients in Spain

Background: Celiac disease (CD) has a negative impact on the health-related quality of life (HRQL) of affected patients. Although HRQL and its determinants have been examined in Spanish CD patients specifically recruited in hospital settings, these aspects of CD have not been assessed among the general Spanish population. Methods: An observational, transversal study of a non-randomized, representative sample of adult celiac patients throughout all of Spain's Autonomous Regions. Subjects were recruited through celiac patient associations. A Spanish version of the self-administered Celiac Disease-Quality of Life (CD-QOL) questionnaire was used. Determinant factors of HRQL were assessed with the aid of multivariate analysis to control for confounding factors. Results: We analyzed the responses provided by 1,230 patients, 1,092 (89.2%) of whom were women. The overall mean value for the CD-QOL index was 56.3 ± 18.27 points. The dimension that obtained the most points was dysphoria, with 81.3 ± 19.56 points, followed by limitations with 52.3 ± 23.43 points; health problems, with 51.6 ± 26.08 points, and inadequate treatment, with 36.1 ± 21.18 points. Patient age and sex, along with time to diagnosis, and length of time on a gluten-free diet were all independent determinant factors of certain dimensions of HRQL: women aged 31 to 40 expressed poorer HRQL while time to diagnosis and length of time on a gluten-free diet were determinant factors for better HRQL scores. Conclusions: The HRQL of adult Spanish celiac subjects is moderate, improving with the length of time patients remain on a gluten-free diet.

Sensibilidade ao glúten não-celíaca

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Female Collegiate Volleyball Player with Celiac Disease: A Case Report

Estimates of one in every 200 to 400 individuals, including the athletic population, suffer from celiac disease. Elite athletes present a unique complication when implementing a gluten-free diet because of the need for a high energy fuel. Dietetic adjustments such as increasing the caloric content and frequency are necessary to meet energy needs of highly physically active individuals.

Alimentos com e sem glúten: análise comparativa de preços de mercado

A doença celíaca é uma doença autoimune que se traduz numa sensibilidade alimentar crónica ao glúten, que ocorre em indivíduos geneticamente suscetíveis. Em consequência da ingestão de glúten o organismo desenvolve uma reação imunológica contra o próprio intestino. A dieta isenta de glúten é o único tratamento conhecido para esta patologia, adotada para toda a vida, deve ser rigorosa, completa, equilibrada e variada. O presente estudo pretende comparar preços entre categorias de produtos alimentares sem glúten e produtos equiparáveis com glúten. É também objetivo do estudo avaliar o impacto desta despesa no rendimento familiar associado ao cumprimento de uma dieta sem glúten e comparar os resultados da presente recolha de dados com um estudo anterior.

Health-related quality of life and determinant factors in celiac disease: a population-based analysis of adult patients in Spain

Background: Celiac disease (CD) has a negative impact on the health-related quality of life (HRQL) of affected patients. Although HRQL and its determinants have been examined in Spanish CD patients specifically recruited in hospital settings, these aspects of CD have not been assessed among the general Spanish population. Methods: An observational, cross-sectional study of a non-randomized, representative sample of adult celiac patients throughout all of Spain's Autonomous Regions. Subjects were recruited through celiac patient associations. A Spanish version of the self-administered Celiac Disease-Quality of Life (CD-QOL) questionnaire was used. Determinant factors of HRQL were assessed with the aid of multivariate analysis to control for confounding factors. Results: We analyzed the responses provided by 1,230 patients, 1,092 (89.2%) of whom were women. The overall mean value for the CD-QOL index was 56.3 ± 18.27 points. The dimension that obtained the most points was dysphoria, with 81.3 ± 19.56 points, followed by limitations with 52.3 ± 23.43 points; health problems, with 51.6 ± 26.08 points, and inadequate treatment, with 36.1 ± 21.18 points. Patient age and sex, along with time to diagnosis, and length of time on a gluten-free diet were all independent determinant factors of certain dimensions of HRQL: women aged 31 to 40 expressed poorer HRQL while time to diagnosis and length of time on a gluten-free diet were determinant factors for better HRQL scores. Conclusions: The HRQL level of adult Spanish celiac subjects is moderate, improving with the length of time patients remain on a gluten-free diet.

Os impactos psicossociais gerados pelo diagnóstico e tratamento da doença celíaca

Extraído da dissertação: "Os impactos psicossociais da Doença Celíaca" Programa de Pós Graduação em Ciências da Saúde, Universidade de Brasília, 2015.

Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome

Introduction: Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature. Case Presentation: Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal. Conclusions: Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.

Aspergillus niger -proliiniendopeptidaasi prolamiinien eliminoinnissa

Tutkielman kirjallisuusosassa perehdyttiin vehnän, rukiin ja ohran, eli Triticeaeprolamiinien erityisasemaan keliakianäkökulmasta tarkasteltuna ja prolamiinien hydrolyysiin proliinispesifeillä entsyymeillä. Lisäksi tarkasteltiin prolamiinien immunologisia määritysmenetelmiä. Keliakiassa haitalliset gluteenipeptidit sisältävät runsaasti proliinia ja ovat hankalia pilkkoa muilla kuin proliinispesifeillä peptidaaseilla. Suurin osa immunologisen reaktion aiheuttavista gluteenilähtöisistä peptideistä voidaan pilkkoa idätetyn viljan endogeenisilla entsyymeillä happamissa olosuhteissa, mutta jäljellejäävä prolamiinipitoisuus ylittää edelleen gluteenittomille tuotteille sallitun rajan. Kokeellisen työn tavoitteena oli eliminoida happamalla mallasinkubaatiolla valmistettujen vehnä-, ohra- ja ruismallasautolysaattien sisältämä jäännösprolamiini Aspergillus niger -homeen tuottamalla proliinispesifillä endopeptidaasilla (AN-PEP) siten, että hydrolysaattia voitaisiin käyttää gluteenittomissa leivontasovelluksissa. Proteiinien hydrolyysiä tarkkailtiin kokoekskluusiokromatografialla (SEC), vapaan aminotypen (FAN) muodostumisena ja SDS-PAGE-elektroforeesilla. Jäännösprolamiinien pilkkoutumista seurattiin immunologisella R5-ELISA-menetelmällä. AN-PEP-inkubaatiolla saatiin aikaan voimakasta prolamiinien pilkkoutumista; mallasautolysaattien jäännösprolamiinista pilkkoutui yli 96 %. SEC- ja FAN-analyysien perusteella inkubaatioaikaa kannatti jatkaa yli 4 h, jolloin polypeptidit pilkkoutuivat edelleen pienemmiksi hydrolyysituotteiksi. Vehnä- ja ruismallashydrolysaattien prolamiinipitoisuuden todettiin laskevan 22 h inkubaation aikana alle tason 100 mg/kg R5-ELISA-menetelmällä määritettynä. Matalimmat prolamiinipitoisuudet saavutettiin AN-PEP-pitoisuudella 35 ?l / g mallasautolysaattia. Codex Alimentarius -komission säädöksen mukaan keliakiaruokavalioon soveltuvat ns. erittäin vähägluteeniset tuotteet saavat sisältää gluteenia enintään 100 mg/kg. Erityisesti AN-PEP-käsiteltyä ruismallasraaka-ainetta voitaisiin mahdollisesti käyttää tuomaan rukiista aromia gluteenittomiin leipiin. Ennen kuin mallashydrolysaatit ovat valmiita kaupallisiin sovelluksiin, on tarkasteltava niiden todellisia mahdollisuuksia parantaa elintarvikkeiden makua ja aromia sekä todettava uuden teknologian turvallisuus keliaakikoille.