Celiac disease is a multisystem immune based disorder that is triggered by the ingestion of gluten in genetically susceptible individuals. The prevalence of celiac disease has risen in recent decades ...and is currently about 1% in most Western populations. The reason for this rise is unknown, although environmental factors related to the hygiene hypothesis are suspected. The pathophysiology of celiac disease involves both the innate and adaptive immune response to dietary gluten. Clinical features are diverse and include gastrointestinal symptoms, metabolic bone disease, infertility, and many other manifestations. Although a gluten-free diet is effective in most patients, this diet can be burdensome and can limit quality of life; consequently, non-dietary therapies are at various stages of development. This review also covers non-celiac gluten sensitivity. The pathophysiology of this clinical phenotype is poorly understood, but it is a cause of increasing interest in gluten-free diets in the general population.
Celiac disease Green, Peter H.R., MD; Lebwohl, Benjamin, MD, MS; Greywoode, Ruby, MD
Journal of allergy and clinical immunology,
05/2015, Letnik:
135, Številka:
5
Journal Article
Recenzirano
Odprti dostop
This review will focus on the pathogenesis, clinical manifestations, diagnosis, and management of celiac disease (CD). Given an increasing awareness of gluten-related disorders, medical professionals ...of all varieties are encountering patients with a diagnosis of CD or who are thought to have food intolerance to gluten. The prevalence of CD among the general population is estimated to be 1% in Western nations, and there is growing evidence for underdiagnosis of the disease, especially in non-Western nations that were traditionally believed to be unaffected. The development of serologic markers specific to CD has revolutionized the ability both to diagnose and monitor patients with the disease. Additionally, understanding of the clinical presentations of CD has undergone a major shift over the past half century. Although it is well understood that CD develops in genetically predisposed subjects exposed to gluten, the extent of other environmental factors in the pathogenesis of the disease is an area of continued research. Currently, the main therapeutic intervention for CD is a gluten-free diet; however, novel nondietary agents are under active investigation. Future areas of research should also help us understand the relationship of CD to other gluten-related disorders.
Almost 100% individuals with coeliac disease (CD) are carriers of the human leucocyte antigen (HLA) DQ2/DQ8 alleles. Earlier studies have, however, failed to consider the HLA system when estimating ...heritability in CD, thus violating an underlying assumption of heritability analysis. We examined the heritability of CD in a large population-based sample of twins, considering HLA.
In a population-representative sample of 107 912 twins, we identified individuals with CD (equal to villous atrophy) through biopsy reports from all Swedish pathology departments. We calculated concordance rates and tetrachoric correlations for monozygotic (MZ) and dizygotic (DZ) twin pairs. Further, we estimated heritability of CD, first strictly from observed data, and then the non-HLA heritability, representing the heritability of all genetic factors except the HLA locus, using an approach that circumvent the violation of underlying assumptions.
We identified 513 twins with a diagnosis of CD (prevalence 0.48%). Concordance rates were higher in MZ pairs (0.49) than in DZ pairs (0.10), as were tetrachoric correlations (0.89 in MZ vs 0.51 in DZ pairs). The heritability of CD was 75% (95% CI 55% to 96%). The non-HLA heritability was slightly attenuated, 68% (95% CI 40% to 96%), with shared (17%) and non-shared (15%) environmental factors explaining the remaining variability of CD.
CD is characterised by a high heritability, but our study also suggests that non-shared environmental factors may be of importance to CD development. HLA seems to have only moderate impact on heritability estimates.
Colonoscopy as a screening and diagnostic tool is generally safe and well-tolerated, and significant complications are rare. The rate of more mild adverse effects is difficult to estimate, ...particularly when such effects do not result in hospital admission. We aimed to identify the rate and timing of adverse effects as reported by users querying symptoms on an internet search engine.
We identified queries made to Bing originating from users in the United States containing the word "colonoscopy" during a 12-month period and identified those queries in which the timing of colonoscopy could be estimated. We then identified queries from those same users for medical symptoms during the time span from 5 days before through 30 days after the colonoscopy date.
Of 641,223 users mentioning colonoscopy, 7013 (1.1%) had a query that enabled identification of their colonoscopy date. The majority of queries about colonoscopy preceded the procedure, and concerned diet. 28% of colonoscopy-related queries were made afterwards, and included queries about diarrhea and cramps, with 2.6% of users querying respiratory symptoms after the procedure, including cough (1.2%) and pneumonia (0.6%). Respiratory symptoms rose significantly at days 7-10 after the colonoscopy.
Internet search queries for respiratory symptoms rose approximately one week after queries relating to colonoscopy, raising the possibility that such symptoms are an under-reported late adverse effect of the procedure. Given the widespread use of colonoscopy as a screening modality and the rise of anesthesia-assisted colonoscopy in the United States in recent years, this signal is of potential public health concern.
Background There are no guidelines for the recommended interval to the next examination after colonoscopy with suboptimal bowel preparation. Objective To identify factors associated with early repeat ...colonoscopy after initial examinations with suboptimal preparations and to measure adenoma miss rates in this context. Design Retrospective study. Setting Hospital-based endoscopy unit. Patients Bowel preparation quality was recorded in 12,787 patients. Results Of 12,787 colonoscopies, preparation quality was suboptimal (poor or fair) in 3047 patients (24%). Among these 3047 patients, repeat examination was performed in <3 years in 505 (17%). Factors associated with early repeat colonoscopy included lack of cecal intubation (odds ratio OR 3.62, 95% confidence interval CI, 2.50-5.24) and finding a polyp (OR 1.55, 95% CI, 1.17-2.07). Among 216 repeat colonoscopies with optimal preparation, 198 adenomas were identified, of which 83 were seen only on the second examination, an adenoma miss rate of 42% (95% CI, 35-49). The advanced adenoma miss rate was 27% (95% CI, 17-41). For colonoscopies repeated in <1 year, the adenoma and advanced adenoma miss rates were 35% and 36%, respectively. Limitations Single-center, retrospective study. Conclusion Although a minority of patients undergo early repeat examination after colonoscopies done with suboptimal bowel preparation, the miss rates for colonoscopies done with suboptimal bowel preparation were high, suggesting that suboptimal bowel preparation substantially decreases colonoscopy effectiveness and may mandate an early follow-up examination.
Background & Aims Non-alcoholic fatty liver disease is a common cause of chronic liver disease. Celiac disease alters intestinal permeability and treatment with a gluten-free diet often causes weight ...gain, but so far there are few reports of non-alcoholic fatty liver disease in patients with celiac disease. Methods Population-based cohort study. We compared the risk of non-alcoholic fatty liver disease diagnosed from 1997 to 2009 in individuals with celiac disease (n = 26,816) to matched reference individuals (n = 130,051). Patients with any liver disease prior to celiac disease were excluded, as were individuals with a lifetime diagnosis of alcohol-related disorder to minimize misclassification of non-alcoholic fatty liver disease. Cox regression estimated hazard ratios for non-alcoholic fatty liver disease were determined. Results During 246,559 person-years of follow-up, 53 individuals with celiac disease had a diagnosis of non-alcoholic fatty liver disease (21/100,000 person-years). In comparison, we identified 85 reference individuals diagnosed with non-alcoholic fatty liver disease during 1,488,413 person-years (6/100,000 person-years). This corresponded to a hazard ratio of 2.8 (95% CI 2.0–3.8), with the highest risk estimates seen in children (HR = 4.6; 95% CI 2.3–9.1). The risk increase in the first year after celiac disease diagnosis was 13.3 (95% CI 3.5–50.3) but remained significantly elevated even beyond 15 years after the diagnosis of celiac disease (HR = 2.5; 95% CI 1.0–5.9). Conclusion Individuals with celiac disease are at increased risk of non-alcoholic fatty liver disease compared to the general population. Excess risks were highest in the first year after celiac disease diagnosis, but persisted through 15 years after diagnosis with celiac disease.
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