RESUMEN
Coeliac disease is a common condition for which the only current treatment is a gluten-free diet. Adherence to this diet is not always easy and is associated with a reduction in quality of life for the patient and their family. Non-adherence is associated with complications of varying severity. The lack of control at the outpatient care level in a high percentage of these patients evinces the need to improve follow-up protocols and the approach to care delivery with coordination of paediatric gastroenterology units (PGU) and primary care paediatricians. With this aim in mind, the present document was developed by consensus to offer a set of recommendations adapted to our region, based on the recent recommendations published by the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN), and with participation of the pertinent scientific societies, including those concerning the adult population, for the management and follow-up of adolescents and the transition to adult care.
Asunto(s)
Enfermedad Celíaca , Humanos , Enfermedad Celíaca/terapia , Niño , Adolescente , Dieta Sin Gluten , Cuidados Posteriores/métodos , Cuidados Posteriores/normas , Transición a la Atención de Adultos/normas , Sociedades Médicas , Cooperación del PacienteRESUMEN
In this editorial, we comment on an article published in the recent issue of the World Journal of Gastroenterology. Celiac disease (CeD) is a disease occurring in genetically susceptible individuals, which is mainly characterized by gluten intolerance in the small intestine and clinical symptoms such as abdominal pain, diarrhea, and malnutrition. Therefore, patients often need a lifelong gluten-free diet, which greatly affects the quality of life and expenses of patients. The gold standard for diagnosis is intestinal mucosal biopsy, combined with serological and genetic tests. At present, the lack of safe, effective, and satisfactory drugs for CeD is mainly due to the complexity of its pathogenesis, and it is difficult to find a perfect target to solve the multi-level needs of patients. In this editorial, we mainly review the pathological mechanism of CeD and describe the current experimental and improved drugs for various pathological aspects.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapia , Enfermedad Celíaca/fisiopatología , Enfermedad Celíaca/dietoterapia , Humanos , Mucosa Intestinal/patología , Mucosa Intestinal/fisiopatología , Mucosa Intestinal/efectos de los fármacos , Calidad de Vida , Biopsia , Predisposición Genética a la Enfermedad , Intestino Delgado/fisiopatología , Intestino Delgado/patologíaRESUMEN
Coeliac disease (CD) affects almost of 1% of the population, yet remains undiagnosed in the majority. Though the demonstration of enteropathy in duodenal biopsy was traditionally the essential criterion for the diagnosis of coeliac disease, the guidelines published by the European Society of Paediatric Gastroenterology and Nutrition (ESPGHAN) in 2012, and revised in 2020, paved the way to a no-biopsy approach to diagnosis. In a select group of children meeting certain criteria, a definitive diagnosis of CD can now be made without the need for duodenal biopsies. This is being increasingly applied in clinical practice. It is well established that untreated coeliac disease is associated with several chronic adverse health conditions. At present, a strict gluten-free diet remains the only effective treatment for CD. The advances in our understanding of the pathogenesis of CD have led to a search for alternative treatment agents. Several investigational agents are in various phases of clinical trials at present. In this review, we outline the clinical aspects of coeliac disease and summarise various investigational treatment agents.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/terapia , Enfermedad Celíaca/tratamiento farmacológico , Humanos , Niño , Dieta Sin Gluten/métodosRESUMEN
PURPOSE OF REVIEW: This review highlights recent research in the field of celiac disease. RECENT FINDINGS: Epidemiological studies continue to identify celiac disease-associated diseases such as inflammatory arthritis, irritable bowel syndrome, and cardiovascular disease. Recently published consensus guidelines provide recommendations for the long-term management and monitoring of patients with celiac disease. There are multiple pharmaceutical therapies for celiac disease under investigation, and recent phase I and phase II trials are reviewed here. Finally, a recent trial of patients with nonceliac gluten sensitivity demonstrates a significant nocebo effect in this condition. SUMMARY: Recent advances in celiac disease include the development of new clinical guidelines as well as promising new therapeutics. Continued high-quality research is needed to improve the outcomes of patients with celiac disease and nonceliac enteropathies.
Asunto(s)
Enfermedad Celíaca , Síndrome del Colon Irritable , Humanos , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/terapia , Enfermedad Celíaca/dietoterapia , Síndrome del Colon Irritable/terapia , Síndrome del Colon Irritable/diagnóstico , Dieta Sin Gluten , Enfermedades Cardiovasculares/etiología , Enfermedades Cardiovasculares/epidemiología , Guías de Práctica Clínica como AsuntoRESUMEN
Fewer than 1% of patients with celiac disease (CD) will develop refractory CD (RCD). As such, most gastroenterologists might never need to manage patients with RCD. However, all gastroenterologists must be familiarized with the basic concepts of RCD and non-responsive CD (NRCD), since it can present as a severe disease with high mortality, not only due to intestinal failure, but also due to progression to enteropathy-associated T cell lymphoma (EATL) and a higher susceptibility to life-threatening infections. The diagnostic workup and differential diagnosis with other causes of gastrointestinal symptoms and villous atrophy, as well as the differentiation between type I and II RCD, are complex, and may require specialized laboratories and reference hospitals. Immunosuppression is efficient in the milder RCDI; however, the treatment of RCDII falls short, with current options probably only providing transient clinical improvement and delaying EATL development. This review summarizes the current diagnostic and therapeutic approach for patients with RCD that all doctors that manage patients with CD should know.
Asunto(s)
Enfermedad Celíaca , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapia , Enfermedad Celíaca/patología , Humanos , Gastroenterólogos , Diagnóstico DiferencialRESUMEN
OBJECTIVE: Aim: To estimate the differences between patients with celiac disease based on symptoms, diagnosis, treatment, and follow-up. PATIENTS AND METHODS: Materials and Methods: A retrospective cross-sectional study carried out between July 1, 2022 and April 2023, enrolling 200 patients from different provinces of central and south Iraq with Celia disease, whose diagnosis depended on a specialized physician according to WHO guidelines with long-term follow-up. Participants were following up for three to six months in private clinics. Survey was written in English, and the questionnaire form contains 13 fields divided into three sections. Diagnosis of Celia before and after treatment parameters: Tissue Transglutaminase Antibody, IgG, Serum (tTg-Ig G), and tTg-IgA levels the fourth part included a glutin-free diet and symptomatic treatment. RESULTS: Results: Females and ages below 20 were most affected. 176(88%) patients had detectable tTG levels; after 3 months, 72(36.0%) patients had an increase in their body weight but less than 5 kg, while 14(7.0%) of the patients showed an increase of more than 5 kg. But after 6 months, 73(36.5%) patients had an increase in their body weight less than 5 kg, while 45(22.5%) of patients showed an increase of more than 5 kg. CONCLUSION: Conclusions: Celiac patient profile in central Iraq is not different from that in other parts of the world, with typical patient being female and under 30 years of age. The study highlighted to a certain degree that a gluten-free diet can have a modest and promising positive impact on BMI in some patients.
Asunto(s)
Enfermedad Celíaca , Humanos , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/terapia , Enfermedad Celíaca/epidemiología , Enfermedad Celíaca/diagnóstico , Irak/epidemiología , Femenino , Masculino , Estudios Transversales , Estudios Retrospectivos , Adulto , Adulto Joven , Adolescente , Dieta Sin Gluten , Persona de Mediana Edad , Transglutaminasas/inmunología , Niño , Inmunoglobulina G/sangreRESUMEN
ABSTRACT: The American College of Gastroenterology revised its recommendations for diagnosing and managing celiac disease in its updated 2023 clinical guideline. Celiac disease is an autoimmune disorder causing malabsorption following exposure to gluten. A wide range of both gastrointestinal and nongastrointestinal signs and symptoms can occur. This article provides an overview of the diagnosis and management of celiac disease, aiding the NP in developing a greater awareness of the condition both to diagnose it and to refer patients as needed to gastroenterology for evaluation.
Asunto(s)
Enfermedad Celíaca , Enfermeras Practicantes , Guías de Práctica Clínica como Asunto , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/enfermería , Enfermedad Celíaca/terapia , Humanos , Diagnóstico de Enfermería , Dieta Sin GlutenRESUMEN
Celiac disease (CeD), an autoimmune disorder triggered by gluten, affects around 1% of the global population. Standard treatment is a strict gluten-free diet (GFD), which poses significant challenges due to dietary restrictions, cross-contamination and subsequent persistent intestinal inflammation. This underscores the need for new treatment options addressing the complex pathophysiology of CeD. Recent research focuses on developing drugs that target intestinal barrier regeneration, gluten peptide modification, immune response alteration, and gut microbial ecosystem modulation. These approaches offer potential for more effective management of CeD beyond GFD. Gluten-independent treatments may be particularly relevant under the FDA's draft guidance for CeD, which emphasizes drug development as an adjunct to GFD for patients with ongoing signs and symptoms of CeD despite strict GFD.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/terapia , Humanos , Desarrollo de Medicamentos , Animales , Microbioma Gastrointestinal , Glútenes/efectos adversosRESUMEN
This JAMA Clinical Guidelines Synopsis summarizes the American College of Gastroenterology's 2023 guideline update on diagnosis and management of celiac disease.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapia , Enfermedad Celíaca/dietoterapia , Humanos , Glútenes/inmunología , Glútenes/efectos adversosRESUMEN
Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions. As the life expectancy for individuals with Down syndrome increases, knowledge of the epidemiology, clinical features, management and underlying causes of these conditions will become increasingly important. Disorders such as Hashimoto's thyroiditis are prevalent in between 13 and 34% of individuals with Down syndrome but only 3% of the neurotypical population, a pattern similarly recognized in individuals with Celiac Disease (5.8% v 0.5-2%), alopecia areata (27.7% v. 2%), and vitiligo (4.4% v. 0.05-1.55%), respectively. Given the chronicity of autoimmune conditions, early identification and management can significantly impact the quality of life of individuals with Down syndrome. This comprehensive review will highlight common clinical autoimmune conditions observed in individuals with Down syndrome and explore our current understanding of the mechanisms of disease in this population.
Asunto(s)
Enfermedades Autoinmunes , Síndrome de Down , Síndrome de Down/inmunología , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Humanos , Enfermedades Autoinmunes/inmunología , Enfermedades Autoinmunes/epidemiología , Autoinmunidad , Alopecia Areata/inmunología , Alopecia Areata/epidemiología , Alopecia Areata/etiología , Enfermedad de Hashimoto/inmunología , Enfermedad de Hashimoto/epidemiología , Enfermedad de Hashimoto/diagnóstico , Prevalencia , Enfermedad Celíaca/epidemiología , Enfermedad Celíaca/inmunología , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapiaRESUMEN
BACKGROUND: Facebook (FB) is the most popular online networking platform. Many celiac disease Facebook (CD-FB) pages spread awareness about celiac disease (CD). To get the latest information, patients with CD frequently follow such pages. However, little is known about whether such pages provide authentic and reliable information. AIMS: This study aims to investigate whether CD-FB pages spread misleading information to patients with CD. METHODS: On the Facebook social networking platform, CD-FB pages created in three celiac-prevalent countries (Italy, the USA, and India) were explored using different combinations of keywords. The type/category of the CD-FB page, country of origin, purpose, page web link, and number of followers/members were documented in a Microsoft spreadsheet. All posts distributed on selected CD-FB pages in the last 3 years were thoroughly screened. RESULTS: From August 2022 to March 2023, a total of 200 CD-FB pages from Italy, the USA, and India were explored. Out of these 200 pages, 155 CD-FB (Italy 70; the USA 46; India 39) were found eligible. Of them, 20 (13%) CD-FB pages (Italy 4; the USA 5; India 11) shared misleading information about CD. Surprisingly, 11 (8%) of these 20 pages (Italy 0; the USA 2; India 9) supported alternative treatment options for CD. CONCLUSIONS: CD-FB pages are useful for disseminating celiac-disease-related information. While most such pages provide useful information, 13% of CD-FB pages allow misleading information. Patients with CD should consult their treating unit before following any uncertain information posted on CD-FB pages.
Asunto(s)
Enfermedad Celíaca , Enfermedad Celíaca/terapia , Enfermedad Celíaca/diagnóstico , Humanos , India/epidemiología , Italia/epidemiología , Estados Unidos/epidemiología , Medios de Comunicación Sociales , Red Social , Educación del Paciente como AsuntoRESUMEN
Celiac disease (CD) is a chronic autoimmune enteropathy and multifactorial disease caused by inappropriate immune responses to gluten in the small intestine. Weight loss, anemia, osteoporosis, arthritis, and hepatitis are among the extraintestinal manifestations of active CD. Currently, a strict lifelong gluten-free diet (GFD) is the only safe, effective, and available treatment. Despite the social burden, high expenses, and challenges of following a GFD, 2 to 5 percent of patients do not demonstrate clinical or pathophysiological improvement. Therefore, we need novel and alternative therapeutic approaches for patients. Innovative approaches encompass a broad spectrum of strategies, including enzymatic degradation of gluten, inhibition of intestinal permeability, modulation of the immune response, inhibition of the transglutaminase 2 (TG2) enzyme, blocking antigen presentation by HLA-DQ2/8, and induction of tolerance. Hence, this review is focused on comprehensive therapeutic strategies ranging from dietary approaches to novel methods such as antigen-based immunotherapy, cell and gene therapy, and the usage of nanoparticles for CD treatment.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Humanos , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/terapia , Enfermedad Celíaca/inmunología , Animales , Tratamiento Basado en Trasplante de Células y Tejidos/métodos , Proteína Glutamina Gamma Glutamiltransferasa 2 , Inmunoterapia/métodos , Glútenes/inmunología , Transglutaminasas/inmunología , Transglutaminasas/metabolismoRESUMEN
BACKGROUND & AIMS: Celiac disease (CD) is a chronic inflammatory disease of the small intestine induced and maintained by gluten ingestion in susceptible individuals. Current treatment consists of strict adherence to a lifelong gluten-free diet (GFD) which is considered safe and effective in the large majority of patients. However, since adherence to a GFD is difficult and has a negative impact on quality of life, an increasing interest in other treatment options has emerged. Moreover, in some individuals a GFD is not sufficiently effective, necessitating alternative treatments. METHODS: By performing a systematic search, we constructed a detailed narrative review. Only treatment options considered relevant and conducted in a phase I, II or III clinical trial were included. RESULTS: Based on the pathophysiology of CD, four major therapeutic approaches can be distinguished: firstly, by focusing on intraluminal gluten detoxification before absorption occurs, secondly, by modulating intestinal permeability and preventing paracellular uptake, thirdly, by enhancing immunological tolerance to gluten and finally, by regulating gluten auto-immunity. CONCLUSIONS: Despite significant efforts, no treatment has yet completed a phase III clinical trial. Future studies will likely focus on the use of supplemental drugs in conjunction to a GFD, with ALV003 and ZED-1227 currently being the most promising therapeutic options.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Glútenes , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/terapia , Humanos , Dieta Sin Gluten/métodos , Péptido HidrolasasRESUMEN
Celiac disease (CeD) is the most common immune condition affecting the gastrointestinal tract; it is triggered by gluten and the only available treatment is a strict gluten-free diet (GFD). Therefore, for patients with CeD, adopting a GFD is not a lifestyle choice. The major problem is that a GFD is restrictive and, like all restrictive diets, it has the potential for adverse nutritional outcomes, especially if adopted for a long term. It is well known that GFD can be nutritionally inadequate and is frequently associated with vitamin and mineral deficiencies; it is also associated with excessive sugar and fat intake, particularly when gluten-free substitutes are consumed. Consequently, people with CeD are affected by higher rates of overweight and obesity and metabolic complications, such as fatty liver and cardiovascular disease. Therefore, assessment of nutritional status and diet quality at diagnosis and while on a long-term GFD is key in the management of CeD. This narrative review addresses nutritional considerations in CeD and management of common challenges associated with a GFD.
Asunto(s)
Enfermedad Celíaca , Dieta Sin Gluten , Evaluación Nutricional , Estado Nutricional , Humanos , Enfermedad Celíaca/dietoterapia , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/terapiaRESUMEN
Nonresponsive celiac disease (CeD) is relatively common. It is generally attributed to persistent gluten exposure and resolves after correction of diet errors. However, other complications of CeD and disorders clinically mimicking CeD need to be excluded. Novel therapies are being evaluated to facilitate mucosal recovery, which might benefit patients with nonresponsive CeD. Refractory CeD (RCeD) is rare and is divided into 2 types. The etiology of type I RCeD is unclear. A switch to gluten-independent autoimmunity is suspected in some patients. In contrast, type II RCeD represents a low-grade intraepithelial lymphoma. Type I RCeD remains a diagnosis of exclusion, requiring ruling out gluten intake and other nonmalignant causes of villous atrophy. Diagnosis of type II RCeD relies on the demonstration of a clonal population of neoplastic intraepithelial lymphocytes with an atypical immunophenotype. Type I RCeD and type II RCeD generally respond to open-capsule budesonide, but the latter has a dismal prognosis due to severe malnutrition and frequent progression to enteropathy-associated T-cell lymphoma; more efficient therapy is needed.
Asunto(s)
Enfermedad Celíaca , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapia , Enfermedad Celíaca/inmunología , Enfermedad Celíaca/dietoterapia , Humanos , Dieta Sin Gluten , Mucosa Intestinal/patología , Mucosa Intestinal/inmunología , Mucosa Intestinal/efectos de los fármacos , Glútenes/inmunología , Glútenes/efectos adversos , Resultado del Tratamiento , Budesonida/uso terapéuticoRESUMEN
Patients who come to clinical consultation for chronic diarrhoea (i.e., diarrhoea lasting for more than four weeks) may suffer from a wide range of clinical conditions. The possible diagnoses range from a misunderstanding of what can be considered normal and what pathological in terms of daily bowel movements, to a severe malabsorption syndrome. Since the list of possible causes of chronic diarrhoea can be puzzling, the physician's approach needs to be systematic and structured in order to allow the correct diagnosis and treatment. This article proposes an algorithm for the diagnosis of chronic diarrhoea and discusses in detail the key clinical aspects of celiac disease, which is considered a paradigmatic disease as regards chronic malabsorptive diarrhoea.
Asunto(s)
Enfermedad Celíaca , Síndromes de Malabsorción , Humanos , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapia , Diarrea/diagnóstico , Diarrea/etiología , Diarrea/terapia , Síndromes de Malabsorción/complicaciones , Síndromes de Malabsorción/diagnóstico , Síndromes de Malabsorción/terapia , Enfermedad CrónicaRESUMEN
Celiac disease (CD) is a complex disorder influenced by genetic and environmental factors. When people with a genetic predisposition to CD consume gluten, an inflammatory response is triggered in the small intestine, and this reaction can be alleviated by the elimination of gluten from the diet. The clinical manifestations of CD vary greatly from person to person and begin at a young age or in adulthood. Influence of genetic factors on CD development is evident in carriers of the DQ2 and/or DQ8 allele. HLA genotypes are associated with gut colonization by bacteria, particularly in individuals suffering from CD. In addition, beneficial gut microbes are crucial for the production of DPP-4, which plays a key role in immune function, as well as metabolic and intestinal health. Therefore, probiotics have been recommended as a complementary food supplement in CD.
Asunto(s)
Enfermedad Celíaca , Humanos , Enfermedad Celíaca/genética , Enfermedad Celíaca/terapia , Glútenes , Alelos , Predisposición Genética a la Enfermedad , GenotipoRESUMEN
Coeliac disease is an autoinflammatory condition caused by immune reactions to cereal gluten proteins. Currently, the only available treatment for the condition is a lifelong avoidance of gluten proteins in the diet. There is an unmet need for alternative therapies. Coeliac disease has a strong association with certain HLA-DQ allotypes (DQ2.5, DQ2.2 and DQ8), and these disease-associated HLA-DQ molecules present deamidated gluten peptides to gluten-specific CD4+ T cells. The gluten-specific CD4+ T cells are the drivers of the immune reactions leading to coeliac disease. Once established, the clonotypes of gluten-specific CD4+ T cells persist for decades, explaining why patients must adhere to a gluten-free diet for life. Given the key pathogenic role of gluten-specific CD4+ T cells, tolerance-inducing therapies that target these T cells are attractive for treatment of the disorder. Lessons learned from coeliac disease might provide clues for treatment of other HLA-associated diseases for which the disease-driving antigens are unknown. Thus, intensive efforts have been and are currently implemented to bring an effective tolerance-inducing therapy for coeliac disease. This Review discusses mechanisms of the various approaches taken, summarizing the progress made, and highlights future directions in this field.
Asunto(s)
Enfermedad Celíaca , Enfermedad Celíaca/inmunología , Enfermedad Celíaca/terapia , Humanos , Tolerancia Inmunológica/inmunología , Glútenes/inmunología , Glútenes/efectos adversos , Dieta Sin Gluten , Antígenos HLA-DQ/inmunología , Linfocitos T CD4-Positivos/inmunologíaRESUMEN
Celiac disease is a common gastrointestinal condition with an estimated global prevalence of up to 1%. Adequate long-term surveillance of patients is imperative to ensure strict adherence to treatment with a gluten-free diet and the ensuing clinical and histologic recovery. Traditionally, this has been accomplished by means of regular on-site attendance at specialist health care facilities, accompanied for most patients by follow-up endoscopic and laboratory tests. However, the rapidly increasing prevalence of celiac disease and the limited health care resources challenge the current centralized and nonindividualized follow-up strategies. The improved noninvasive surveillance tools and online health care services are further changing the landscape of celiac disease management. There is a clear need for more personalized and on-demand follow-up based on early treatment response and patient-related factors associated with long-term prognosis. Additional scientific evidence on the optimal implementation of follow-up for pediatric and adulthood celiac disease is nevertheless called for.