The changing clinical presentation of coeliac disease

Ravikumara, Madhur; Tuthill, David; Jenkins, Huw

doi:10.1136/adc.2006.094045

Cited by 116 publications

(115 citation statements)

References 15 publications

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“…American Gastroenterological Association (AGA) states that "it is important to take multiple endoscopic biopsy specimens (ideally 4 -6 biopsy specimens) from the proximal small intestine" [13], whereas North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) recommends "multiple endoscopic biopsies be obtained from the more distal segments of the duodenum" [14]. Because of the more widespread serological testing and higher clinical awareness, more patients are currently being diagnosed without classical symptoms (diarrhea, steatorrhea, weight loss, anemia), with much milder presentation (such as abdominal discomfort or flatulence), or without any symptoms [15,16]. In these cases, patchy distribution of mucosal changes can be expected, and more extensive bioptical sampling is recommended [17].…”

Section: Untreated Celiac Diseasementioning

confidence: 99%

Diagnosing Celiac Disease: Role of the Pathologists

Švajdler¹,

Daum²,

Rychlý³

2016

IJCD

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Duodenal biopsy is an essential component in the diagnosis of celiac disease (CD). Although the classical findings of increased number of intraepithelial lymphocytes, crypt hyperplasia and villous atrophy are very characteristic, the diagnosis cannot be achieved on the basis of histopathology alone, as there are many entities that can mimic CD and a close collaboration of a pathologist and a clinician specialist is needed. In a patient with suspected CD, pathologist should describe essential histopathological findings and offer differential diagnosis when appropriate. The most important recent changes in the diagnostic criteria for CD include lower numbers of intraepithelial lymphocytes that are considered to be normal and recommendation to perform biopsies from the proximal part of the duodenum in addition to the distal duodenal biopsies.

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Section: Untreated Celiac Diseasementioning

confidence: 99%

Diagnosing Celiac Disease: Role of the Pathologists

Švajdler¹,

Daum²,

Rychlý³

2016

IJCD

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“…Long regarded as a gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more and more often diagnosed in adults. 3 Celiac disease is a multifactorial disorder and both environmental factors, such as gluten, and a multigenic predisposition are needed to explain the etiology of the disease. Concordance rates for celiac disease have been shown to be higher in monozygous twins (86%) than in dizygous twins (20%), indicating a strong genetic component in the development of celiac disease.…”

Section: Introductionmentioning

confidence: 99%

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

et al. 2011

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International audienceCeliac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. We performed finemapping on 446 independent individuals with celiac disease and 641 controls of Dutch origin, testing 872 tagging SNPs in a 22 Mb region of chromosome 6. The twelve most promising SNPs were followed up in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families to identify risk variants in this region. Multiple markers in the region were significantly associated with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, were significantly associated with celiac disease in the Finnish population. The association to rs9391227 represents the strongest association signal found in the Finnish (p=0.0032, OR 0.66) as well as the combined Dutch, Finnish and Hungarian populations (p=3.6*10-5, OR 0.76). Rs9391227 is situated downstream of the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1. Two additional, independent, susceptibility variants in the 6q21-22 region were also found in a meta-analysis of the three populations. The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbours multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility

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“…Studies from Finland (Mäki 1988, Savilahti 2000, Sweden (Ludvigsson 2004), and UK (Ravikumara 2006, Rodrigues 2008 confirmed that children tend to present with more subtle, diffuse and mild symptoms.…”

Section: Clinical Features and Demographicsmentioning

confidence: 94%

Demographics, clinical features and treatment of pediatric celiac disease

Tapsas¹

2015

Linköping University Medical Dissertations

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Celiac disease (CD) is a chronic small intestinal immune-mediated enteropathy triggered by ingestion of gluten-containing food in genetically predisposed subjects. The enteropathy is presented with a wide variety of clinical manifestations, which can occur even outside the gastrointestinal tract. In the majority of cases, the diagnosis of CD is based on a small intestinal biopsy showing mucosal alterations, i.e. intraepithelial lymphocytosis, crypt hyperplasia, and villous atrophy. The treatment, gluten-free diet (GFD), has recently been revised with the addition of gluten-free oats. Oats give a more diversified nutrition and increase the fibre content. The use of oats in CD is though still debated in some reports. A strict life-long adherence to the GFD can be problematic, especially for pediatric CD patients. Sweden reported of one of the highest observed CD prevalences worldwide, i.e. 3%, among 12-year-olds born during what has been described as "the Swedish celiac epidemic", 1984−1996.The aims of this thesis were to elucidate how pediatric CD has changed during a 41-year period in Sweden, i.e. 1973Sweden, i.e. −2013, in terms of clinical presentation, disease severity, incidence, and demographics. We also wanted to adress the compliance to the GFD, the use of oats in the GFD and the safety of oats inclusion in the diet by measuring urinary nitric oxide (NO) metabolites.Filed information provided data about 2856 pediatric patients investigated for suspected CD between 1973 and 2013; of which 1030 patients were diagnosed with CD. After the data analyses the mean age of CD patients was shown to increase after the celiac epidemic period.Currently, CD shows a less severe picture in terms of symptoms and intestinal pathology.Younger children suffer primarily from gastrointestinal symptoms and growth failure, whereas extra-intestinal manifestations are more often displayed among adolescents. viWe also reported an unusually high pediatric CD incidence rate and cumulative incidence, likely the highest reported worldwide. We hypothesised that the introduction of new antibody tests would affect the diagnostic activity and accuracy in performing small intestinal biopsies for CD investigation. However, the outcome of diagnostic activity and accuracy could not clearly be attributed to the use of antibody tests due to changes occurring in parallel during the 41-year study period, e.g. a different pattern of symptoms at presentation and improved knowledge of the disease among parents and health professionals.In a questionnaire-based study our patient group reported a high compliance to the GFD.Long duration of the GFD may, however, influence compliance negatively. Oats have been included to the GFD of our study population in most of the cases without reporting major complications related to their well-being.The urinary measurements of NO metabolites revealed two patient groups, one with high and one with low levels. The two populations did not differ regarding sex, age, compliance to the GFD or oats consumption. Fa...

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The changing clinical presentation of coeliac disease

Cited by 116 publications

References 15 publications

Diagnosing Celiac Disease: Role of the Pathologists

Diagnosing Celiac Disease: Role of the Pathologists

Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations

Demographics, clinical features and treatment of pediatric celiac disease

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