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BMC Medicine Jul 2019Celiac disease remains a challenging condition because of a steady increase in knowledge tackling its pathophysiology, diagnosis, management, and possible therapeutic... (Review)
Review
BACKGROUND
Celiac disease remains a challenging condition because of a steady increase in knowledge tackling its pathophysiology, diagnosis, management, and possible therapeutic options.
MAIN BODY
A major milestone in the history of celiac disease was the identification of tissue transglutaminase as the autoantigen, thereby confirming the autoimmune nature of this disorder. A genetic background (HLA-DQ2/DQ8 positivity and non-HLA genes) is a mandatory determinant of the development of the disease, which occurs with the contribution of environmental factors (e.g., viral infections and dysbiosis of gut microbiota). Its prevalence in the general population is of approximately 1%, with female predominance. The disease can occur at any age, with a variety of symptoms/manifestations. This multifaceted clinical presentation leads to several phenotypes, i.e., gastrointestinal, extraintestinal, subclinical, potential, seronegative, non-responsive, and refractory. Although small intestinal biopsy remains the diagnostic 'gold standard', highly sensitive and specific serological tests, such as tissue transglutaminase, endomysial and deamidated gliadin peptide antibodies, have become gradually more important in the diagnostic work-up of celiac disease. Currently, the only treatment for celiac disease is a life-long, strict gluten-free diet leading to improvement in quality of life, ameliorating symptoms, and preventing the occurrence of refractory celiac disease, ulcerative jejunoileitis, and small intestinal adenocarcinoma and lymphoma.
CONCLUSIONS
The present review is timely and provides a thorough appraisal of various aspects characterizing celiac disease. Remaining challenges include obtaining a better understanding of still-unclear phenotypes such as slow-responsive, potential (minimal lesions) and seronegative celiac disease. The identification of alternative or complementary treatments to the gluten-free diet brings hope for patients unavoidably burdened by diet restrictions.
Topics: Biopsy; Celiac Disease; Diagnosis, Differential; Diet, Gluten-Free; Humans; Immunity, Innate; Phenotype; Quality of Life; Serologic Tests
PubMed: 31331324
DOI: 10.1186/s12916-019-1380-z -
Nutrients Nov 2021The gluten-free diet (GFD) has gained popularity beyond its main medical indication as the treatment for gluten-induced immune-mediated disorders such as celiac disease... (Review)
Review
The gluten-free diet (GFD) has gained popularity beyond its main medical indication as the treatment for gluten-induced immune-mediated disorders such as celiac disease (CD), dermatitis herpetiformis, gluten ataxia, wheat allergy, and non-celiac gluten sensitivity. However, the diet carries some disadvantages such as elevated costs, nutritional deficiencies, and social and psychological barriers. The present work aims to review indications, proven benefits, and adverse events of a gluten-free diet. Close follow-up with patients following the diet is recommended. More data is needed to assess the effectiveness of the diet in managing mental and cognitive disorders and to establish a connection between the brain and gluten.
Topics: Biomarkers; Celiac Disease; Diet, Gluten-Free; Gastrointestinal Microbiome; Glutens; Humans
PubMed: 34836247
DOI: 10.3390/nu13113993 -
Gut Nov 2019Lactose is the main source of calories in milk, an essential nutriedigestion, patients with visceral hypersensitivity nt in infancy and a key part of the diet in... (Review)
Review
Lactose is the main source of calories in milk, an essential nutriedigestion, patients with visceral hypersensitivity nt in infancy and a key part of the diet in populations that maintain the ability to digest this disaccharide in adulthood. Lactase deficiency (LD) is the failure to express the enzyme that hydrolyses lactose into galactose and glucose in the small intestine. The genetic mechanism of lactase persistence in adult Caucasians is mediated by a single C→T nucleotide polymorphism at the LCTbo -13'910 locus on chromosome-2. Lactose malabsorption (LM) refers to any cause of failure to digest and/or absorb lactose in the small intestine. This includes primary genetic and also secondary LD due to infection or other conditions that affect the mucosal integrity of the small bowel. Lactose intolerance (LI) is defined as the onset of abdominal symptoms such as abdominal pain, bloating and diarrhoea after lactose ingestion by an individual with LM. The likelihood of LI depends on the lactose dose, lactase expression and the intestinal microbiome. Independent of lactose digestion, patients with visceral hypersensitivity associated with anxiety or the Irritable Bowel Syndrome (IBS) are at increased risk of the condition. Diagnostic investigations available to diagnose LM and LI include genetic, endoscopic and physiological tests. The association between self-reported LI, objective findings and clinical outcome of dietary intervention is variable. Treatment of LI can include low-lactose diet, lactase supplementation and, potentially, colonic adaptation by prebiotics. The clinical outcome of these treatments is modest, because lactose is just one of a number of poorly absorbed carbohydrates which can cause symptoms by similar mechanisms.
Topics: Humans; Lactose Intolerance; Malabsorption Syndromes
PubMed: 31427404
DOI: 10.1136/gutjnl-2019-318404 -
Digestive and Liver Disease : Official... Mar 2020Short bowel syndrome (SBS) is a rare malabsorptive disorder as a result of the loss of bowel mass mostly secondary to surgical resection of the small intestine. Other... (Review)
Review
Short bowel syndrome (SBS) is a rare malabsorptive disorder as a result of the loss of bowel mass mostly secondary to surgical resection of the small intestine. Other causes are vascular diseases, neoplasms or inflammatory bowel disease. The spectrum of the disease is widely variable from single micronutrient malabsorption to complete intestinal failure, depending on the remaining length of the small intestine, the anatomical portion of intestine and the function of the remnant bowel. Over the last years, the management of affected patients has remarkably improved with the increase in patients' quality of life and survival, mainly thanks to advances in home-based parenteral nutrition (PN). In the last ten years new treatment strategies have become available together with increasing experience and the encouraging results with new drugs, such as teduglutide, have added a new dimension to the management of SBS. This review aims to summarize the knowledge available in the current literature on SBS epidemiology, pathophysiology, and its surgical (including intestinal lengthening procedures and intestinal transplantation) and medical management with emphasis on the recent advances. Moreover, this review attempts to provide the new understanding and recent approaches to SBS complications such as sepsis, catheter thrombosis, and intestinal failure-associated liver disease.
Topics: Disease Management; Gastrointestinal Agents; Humans; Intestines; Parenteral Nutrition, Home; Peptides; Quality of Life; Short Bowel Syndrome
PubMed: 31892505
DOI: 10.1016/j.dld.2019.11.013 -
The American Journal of Gastroenterology Jun 2021Our understanding of the pathophysiology of celiac disease has progressed greatly over the past 25 years; however, some fallacies about the clinical characteristics and... (Review)
Review
Our understanding of the pathophysiology of celiac disease has progressed greatly over the past 25 years; however, some fallacies about the clinical characteristics and management persist. Worldwide epidemiologic data are now available showing that celiac disease is ubiquitous. An elevated body mass index is common at the time of the diagnosis. The gluten-free diet (GFD) is an imperfect treatment for celiac disease; not all individuals show a response. This diet is widely used by people without celiac disease, and symptomatic improvement on a GFD is not sufficient for diagnosis. Finally, the GFD is burdensome, difficult to achieve, and thus has an incomplete efficacy, opening exciting opportunities for novel, nondietary treatments.
Topics: Body Mass Index; Celiac Disease; Diagnosis, Differential; Diet, Gluten-Free; Edible Grain; Evidence-Based Medicine; Genetic Predisposition to Disease; Humans
PubMed: 33767109
DOI: 10.14309/ajg.0000000000001218 -
World Journal of Gastroenterology Aug 2022Celiac disease (CeD) is a chronic gluten-induced enteropathy with plethoric manifestations. The typical manifestations of CeD such as chronic diarrhea and malabsorption... (Review)
Review
Celiac disease (CeD) is a chronic gluten-induced enteropathy with plethoric manifestations. The typical manifestations of CeD such as chronic diarrhea and malabsorption are widely recognized, however, many patients have atypical manifestations like iron deficiency anemia, idiopathic short stature, hypertransaminesemia or infertility, These patients often present to the primary care physicians and/or non-gastrointestinal specialties. However, due to a lack of awareness among the healthcare professionals about the various atypical manifestations, many patients are not screened for CeD. In this review, we have summarized the available literature about the prevalence of CeD in various gastrointestinal (chronic diarrhea) and non-gastrointestinal conditions (iron deficiency anemia, short stature, cryptogenic hypertransaminesemia, cryptogenic cirrhosis or idiopathic ataxia ) where the diagnosis of CeD should be con-sidered. In addition, we also discuss special scenarios where screening for CeD should be considered even in absence of symptoms such as patients with type 1 diabetes, Down's syndrome, and first-degree relatives of patients with CeD. Further, we discuss the diagnostic performance and limitations of various screening tests for CeD such as IgA anti-tissue transglutaminase antibodies, anti-endomysial antibodies and anti-deamidated gliadin antibodies. Based on the current recommendations, we propose a diagnostic algorithm for patients with suspected CeD.
Topics: Anemia, Iron-Deficiency; Antibodies, Anti-Idiotypic; Autoantibodies; Celiac Disease; Delivery of Health Care; Diarrhea; Gliadin; Humans; Immunoglobulin A; Protein Glutamine gamma Glutamyltransferase 2; Transglutaminases
PubMed: 36157923
DOI: 10.3748/wjg.v28.i32.4493 -
Journal of Clinical Gastroenterology Jan 2020Celiac disease is a common form of enteropathy with frequent extraintestinal manifestations (EIM). Misrecognition of these presentations may lead to significant delays... (Review)
Review
Celiac disease is a common form of enteropathy with frequent extraintestinal manifestations (EIM). Misrecognition of these presentations may lead to significant delays in diagnosis. Any organ may be involved, either through an immune/inflammatory phenomenon, or nutritional deficiencies. Some EIM, such as gluten ataxia, may be irreversible if left untreated, but most will improve with a gluten-free diet. Knowledge of the various EIM, as well as the associated conditions which do not improve on a gluten-free diet, will avoid delays in the diagnosis and management of celiac disease and associated manifestations.
Topics: Celiac Disease; Delayed Diagnosis; Diet, Gluten-Free; Eye Diseases; Gastrointestinal Diseases; Humans; Malnutrition; Mental Disorders; Mouth Diseases; Musculoskeletal Diseases; Nervous System Diseases; Skin Diseases; Symptom Assessment
PubMed: 31513026
DOI: 10.1097/MCG.0000000000001267 -
American Family Physician Apr 2020Chronic diarrhea is defined as a predominantly loose stool lasting longer than four weeks. A patient history and physical examination with a complete blood count,...
Chronic diarrhea is defined as a predominantly loose stool lasting longer than four weeks. A patient history and physical examination with a complete blood count, C-reactive protein, anti-tissue transglutaminase immunoglobulin A (IgA), total IgA, and a basic metabolic panel are useful to evaluate for pathologies such as celiac disease or inflammatory bowel disease. More targeted testing should be based on the differential diagnosis. When the differential diagnosis is broad, stool studies should be used to categorize diarrhea as watery, fatty, or inflammatory. Some disorders can cause more than one type of diarrhea. Watery diarrhea includes secretory, osmotic, and functional types. Functional disorders such as irritable bowel syndrome and functional diarrhea are common causes of chronic diarrhea. Secretory diarrhea can be caused by bile acid malabsorption, microscopic colitis, endocrine disorders, and some postsurgical states. Osmotic diarrhea can present with carbohydrate malabsorption syndromes and laxative abuse. Fatty diarrhea can be caused by malabsorption or maldigestion and includes disorders such as celiac disease, giardiasis, and pancreatic exocrine insufficiency. Inflammatory diarrhea warrants further evaluation and can be caused by disorders such as inflammatory bowel disease, Clostridioides difficile, colitis, and colorectal cancer.
Topics: Adult; Celiac Disease; Chronic Disease; Diagnosis, Differential; Diarrhea; Humans; Immunoglobulin A; Inflammatory Bowel Diseases; Malabsorption Syndromes
PubMed: 32293842
DOI: No ID Found -
Nature Reviews. Gastroenterology &... Dec 2021Progress has been made in understanding coeliac disease, a relatively frequent and underappreciated immune-mediated condition that occurs in genetically predisposed...
Progress has been made in understanding coeliac disease, a relatively frequent and underappreciated immune-mediated condition that occurs in genetically predisposed individuals. However, several gaps remain in knowledge related to diagnosis and management. The gluten-free diet, currently the only available management, is not curative or universally effective (some adherent patients have ongoing duodenal injury). Unprecedented numbers of emerging therapies, including some with novel tolerogenic mechanisms, are currently being investigated in clinical trials. In March 2020, the Celiac Disease Foundation and the Society for the Study of Celiac Disease convened a consensus workshop to identify high-yield areas of research that should be prioritized. Workshop participants included leading experts in clinical practice, academia, government and pharmaceutical development, as well as representatives from patient support groups in North America. This Roadmap summarizes key advances in the field of coeliac disease and provides information on important discussions from the consensus approach to address gaps and opportunities related to the pathogenesis, diagnosis and management of coeliac disease. The morbidity of coeliac disease is often underestimated, which has led to an unmet need to improve the management of these patients. Expanded research funding is needed as coeliac disease is a potentially curable disease.
Topics: Animals; Biomedical Research; Celiac Disease; Diet, Gluten-Free; Humans; Mice; Research Support as Topic; Societies, Medical; United States
PubMed: 34526700
DOI: 10.1038/s41575-021-00511-8 -
Nutrients Apr 2021Numerous disorders can alter the physiological mechanisms that guarantee proper digestion and absorption of nutrients (macro- and micronutrients), leading to a wide... (Review)
Review
Numerous disorders can alter the physiological mechanisms that guarantee proper digestion and absorption of nutrients (macro- and micronutrients), leading to a wide variety of symptoms and nutritional consequences. Malabsorption can be caused by many diseases of the small intestine, as well as by diseases of the pancreas, liver, biliary tract, and stomach. This article provides an overview of pathophysiologic mechanisms that lead to symptoms or complications of maldigestion (defined as the defective intraluminal hydrolysis of nutrients) or malabsorption (defined as defective mucosal absorption), as well as its clinical consequences, including both gastrointestinal symptoms and extraintestinal manifestations and/or laboratory abnormalities. The normal uptake of nutrients, vitamins, and minerals by the gastrointestinal tract (GI) requires several steps, each of which can be compromised in disease. This article will first describe the mechanisms that lead to poor assimilation of nutrients, and secondly discuss the symptoms and nutritional consequences of each specific disorder. The clinician must be aware that many malabsorptive disorders are manifested by subtle disorders, even without gastrointestinal symptoms (for example, anemia, osteoporosis, or infertility in celiac disease), so the index of suspicion must be high to recognize the underlying diseases in time.
Topics: Anemia; Humans; Infertility; Intestinal Absorption; Intestinal Mucosa; Intestine, Large; Intestine, Small; Malabsorption Syndromes; Nutrients; Osteoporosis
PubMed: 33920345
DOI: 10.3390/nu13041254