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United European Gastroenterology Journal Jun 2019This guideline presents recommendations for the management of coeliac disease (CD) and other gluten-related disorders both in adults and children. There has been a...
This guideline presents recommendations for the management of coeliac disease (CD) and other gluten-related disorders both in adults and children. There has been a substantial increase in the prevalence of CD over the last 50 years and many patients remain undiagnosed. Diagnostic testing, including serology and biopsy, should be performed on a gluten-containing diet. The diagnosis of CD is based on a combination of clinical, serological and histopathological data. In a group of children the diagnosis may be made without biopsy if strict criteria are available. The treatment for CD is primarily a gluten-free diet (GFD), which requires significant patient education, motivation and follow-up. Slow-responsiveness occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms necessitate a review of the original diagnosis, exclude alternative diagnoses, confirm dietary adherence (dietary review and serology) and follow-up biopsy. In addition, evaluation to exclude complications of CD, such as refractory CD or lymphoma, should be performed. The guideline also deals with other gluten-related disorders, such as dermatitis herpetiformis, which is a cutaneous manifestation of CD characterized by granular IgA deposits in the dermal papillae. The skin lesions clear with gluten withdrawal. Also, less well-defined conditions such as non-coeliac gluten sensitivity (NCGS) and gluten-sensitive neurological manifestations, such as ataxia, have been addressed. Newer therapeutic modalities for CD are being studied in clinical trials but are not yet approved for use in practice.
Topics: Adult; Celiac Disease; Child; Dermatitis Herpetiformis; Diet, Gluten-Free; Dietary Supplements; Humans; Immunotherapy; Quality of Life
PubMed: 31210940
DOI: 10.1177/2050640619844125 -
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 -
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 -
American Family Physician Aug 2016Children with very low weight for age or height and those who do not maintain an appropriate growth pattern may have failure to thrive (FTT), also known as weight... (Review)
Review
Children with very low weight for age or height and those who do not maintain an appropriate growth pattern may have failure to thrive (FTT), also known as weight faltering. If confirmed by repeated valid measurements, FTT should prompt a search for causes of undernutrition, including neglect, family food insecurity, and underlying medical conditions. Inadequate caloric intake is the most common cause of FTT, but inadequate nutrient absorption or increased metabolism is also possible. Difficulty attaining or maintaining appropriate weight is the first indication of FTT, and sustained undernutrition can impede appropriate height, head circumference, and the development of cognitive skills or immune function in extreme cases. Early identification and management of the issues causing undernutrition are critical. In most cases, an appropriate growth velocity can be established with outpatient management based on proper nutrition and family support. Primary care physicians can effectively treat most children with FTT, and subspecialist consultation or hospitalization is rarely indicated.
Topics: Adolescent; Body Weight; Child; Child, Preschool; Early Diagnosis; Early Medical Intervention; Energy Intake; Failure to Thrive; Growth Charts; Humans; Infant; Infant, Newborn; Malabsorption Syndromes; Malnutrition; Practice Guidelines as Topic
PubMed: 27548594
DOI: No ID Found -
Nutrients Sep 2015Lactose intolerance related to primary or secondary lactase deficiency is characterized by abdominal pain and distension, borborygmi, flatus, and diarrhea induced by... (Review)
Review
Lactose intolerance related to primary or secondary lactase deficiency is characterized by abdominal pain and distension, borborygmi, flatus, and diarrhea induced by lactose in dairy products. The biological mechanism and lactose malabsorption is established and several investigations are available, including genetic, endoscopic and physiological tests. Lactose intolerance depends not only on the expression of lactase but also on the dose of lactose, intestinal flora, gastrointestinal motility, small intestinal bacterial overgrowth and sensitivity of the gastrointestinal tract to the generation of gas and other fermentation products of lactose digestion. Treatment of lactose intolerance can include lactose-reduced diet and enzyme replacement. This is effective if symptoms are only related to dairy products; however, lactose intolerance can be part of a wider intolerance to variably absorbed, fermentable oligo-, di-, monosaccharides and polyols (FODMAPs). This is present in at least half of patients with irritable bowel syndrome (IBS) and this group requires not only restriction of lactose intake but also a low FODMAP diet to improve gastrointestinal complaints. The long-term effects of a dairy-free, low FODMAPs diet on nutritional health and the fecal microbiome are not well defined. This review summarizes recent advances in our understanding of the genetic basis, biological mechanism, diagnosis and dietary management of lactose intolerance.
Topics: Adult; Dairy Products; Diet, Carbohydrate-Restricted; Digestion; Fermentation; Gastrointestinal Absorption; Gastrointestinal Microbiome; Gastrointestinal Tract; Genetic Predisposition to Disease; Humans; Lactase; Lactose; Lactose Intolerance; Phenotype; Predictive Value of Tests; Risk Factors; Treatment Outcome
PubMed: 26393648
DOI: 10.3390/nu7095380 -
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 -
The American Journal of Gastroenterology May 2017Breath tests (BTs) are important for the diagnosis of carbohydrate maldigestion syndromes and small intestinal bacterial overgrowth (SIBO). However, standardization is...
OBJECTIVES
Breath tests (BTs) are important for the diagnosis of carbohydrate maldigestion syndromes and small intestinal bacterial overgrowth (SIBO). However, standardization is lacking regarding indications for testing, test methodology and interpretation of results. A consensus meeting of experts was convened to develop guidelines for clinicians and research.
METHODS
Pre-meeting survey questions encompassing five domains; indications, preparation, performance, interpretation of results, and knowledge gaps, were sent to 17 clinician-scientists, and 10 attended a live meeting. Using an evidence-based approach, 28 statements were finalized and voted on anonymously by a working group of specialists.
RESULTS
Consensus was reached on 26 statements encompassing all five domains. Consensus doses for lactulose, glucose, fructose and lactose BT were 10, 75, 25 and 25 g, respectively. Glucose and lactulose BTs remain the least invasive alternatives to diagnose SIBO. BT is useful in the diagnosis of carbohydrate maldigestion, methane-associated constipation, and evaluation of bloating/gas but not in the assessment of oro-cecal transit. A rise in hydrogen of ≥20 p.p.m. by 90 min during glucose or lactulose BT for SIBO was considered positive. Methane levels ≥10 p.p.m. was considered methane-positive. SIBO should be excluded prior to BT for carbohydrate malabsorption to avoid false positives. A rise in hydrogen of ≥20 p.p.m. from baseline during BT was considered positive for maldigestion.
CONCLUSIONS
BT is a useful, inexpensive, simple and safe diagnostic test in the evaluation of common gastroenterology problems. These consensus statements should help to standardize the indications, preparation, performance and interpretation of BT in clinical practice and research.
Topics: Blind Loop Syndrome; Breath Tests; Consensus; Fructose; Gastrointestinal Diseases; Glucose; Humans; Hydrogen; Lactose; Lactose Intolerance; Lactulose; Methane; North America; Patient Selection; Practice Guidelines as Topic
PubMed: 28323273
DOI: 10.1038/ajg.2017.46 -
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