Clinical practice. Celiac disease

ArticleinNew England Journal of Medicine 367(25):2419-26 · December 2012with32 Reads
DOI: 10.1056/NEJMcp1113994 · Source: PubMed
    • "Celiac disease (CD) is a chronic systemic inflammatory condition of autoimmune origin as a result of permanent intolerance to gluten in genetically predisposed individ- uals [1, 2]. CD was thought initially to be a disease of children and was treated mainly by pediatricians. "
    [Show abstract] [Hide abstract] ABSTRACT: Background Based on age of presentation, celiac disease (CD) is categorised as pediatric CD and adult CD. It however remains unclear if these are genetically and/or phenotypically distinct disorders or just different spectrum of the same disease. We therefore explored the common genetic components underlying pediatric and adult CD in a well characterized north Indian cohort. Methods A retrospective analysis of children (n = 531) and adult (n = 871) patients with CD between January 2001 and December 2010 was done. The database included basic demographic characteristics, clinical presentations, associated diseases and complications, if any. The genotype dataset was acquired for children (n = 217) and adult CD patients (n = 340) and controls (n = 736) using Immunochip. Association analysis was performed using logistic regression model to identify susceptibility genetic variants. Results The predominant form of CD was classical CD in both pediatric and adult CD groups. There was remarkable similarity between pediatric and adult CD except for quantitative differences between the two groups such as female preponderance, non-classical presentation, co-occurrence of other autoimmune diseases being more common amongst adult CD. Notably, same HLA-DQ2 and –DQ8 haplotypes were established as the major risk factors in both types of CD. In addition, a few suggestively associated (p < 5 × 10−4) non-HLA markers were identified of which only ANK3 (rs4948256-A; rs10994257-T) was found to be shared and explain risk for ~45 % of CD patients with HLA allele. Discussion Overall phenotypic similarity between pediatric and adult CD groups can be explained by contribution of same HLA risk alleles. Different non-HLA genes/loci with minor risk seem to play crucial role in disease onset and extra intestinal manifestation of CD. None of the non-HLA risk variants reached genome-wide significance, however most of them were shown to have functional implication to disease pathogenesis. Functional relevance of our findings needs to be investigated to address clinical heterogeneity of CD. Conclusions This present study is the first comparative study based on common genetic markers to suggest that CD in pediatric age group and in adults are the spectrum of the same disease with novel and shared genetic risk determinants. Follow-up fine mapping studies with larger study cohorts are warranted for further genetic investigation.
    Full-text · Article · Dec 2016
    • "Furthermore, there is a lack of consistency when defining the foods that comprise a Paleolithic diet, which makes evaluating its effects on health and performance outcomes exceedingly challenging [17]. On the other hand, individuals with Celiac disease clearly improve physical health after following a gluten-free diet [19]. While current evidence is extremely limited, one recent study failed to show any benefit of following a gluten-free diet for non-Celiac endurance athletes [20]. "
    [Show abstract] [Hide abstract] ABSTRACT: Objectives: To describe the nutrition behaviors, perceptions, and beliefs of marathoners. Methods: A survey-based study was conducted with 422 recent marathon finishers (199 men, 223 women). Participants reported their running background, demographics, diets followed, supplements used, and food/fluid intake during their most recent marathon (median 7 days prior), as well as beliefs about hydration, fueling, and sources of nutrition information. Results: Median finishing times were 3:53 (3:26-4:35) and 4:25 (3:50-4:59) h:min for men and women during their most recent marathon. Most participants (66.1%) reported typically following a moderate-carbohydrate, moderate-fat diet, while 66.4% carbohydrate-loaded prior to their most recent marathon. Among 139 participants following a specific diet over the past year, the most common were vegetarian/vegan/pescatarian (n = 39), Paleolithic (n = 16), gluten-free (n = 15), and low-carbohydrate (n = 12). Roughly 35% of participants took a supplement intended to improve running performance over the past month. Women were more likely to follow specific diets (39.0% vs. 26.1%), while men were more likely to recently use performance-enhancing supplements (40.2% vs. 30.0%). Most participants (68.3%) indicated they were likely or very likely to rely on a structured plan to determine fluid intake, and 75% were confident in their ability to hydrate. At least 35.6% of participants thought they could improve marathon performance by 8% or more with nutrition interventions. Scientific journals ranked as the most reliable source of nutrition information, while running coaches ranked as the most likely source to be utilized. Conclusions: Findings from this investigation, such as diets and supplements utilized by marathoners, can be used by practitioners and researchers alike to improve the dissemination of scientifically-based information on nutrition and marathon running.
    Article · Apr 2016
    • "Increasingly, diagnoses are being made in persons without symptoms as a result of increased screening [2]. Globally celiac disease affects between 1 in 100 people [3]. "
    [Show abstract] [Hide abstract] ABSTRACT: Introduction: Celiac disease, is an autoimmune disorder of the small intestine that occurs in genetically predisposed people. Symptoms include pain and discomfort in the digestive tract, chronic constipation and diarrhoea, failure to thrive, anaemia and fatigue, but these may be absent, and symptoms in other organ systems have been described.
    Full-text · Article · Apr 2016 · BMC Medical Genomics
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