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Natural history and clinical detection of undiagnosed coeliac disease in a North American community.

ABSTRACT: BACKGROUND:Coeliac disease is a substantially underdiagnosed disorder, with clinical testing currently guided by case finding. AIM:To determine the presence of indications for diagnostic testing and frequency of clinical testing in undiagnosed coeliac disease. METHODS:This was a case-control study of adults without prior diagnosis of coeliac disease. Undiagnosed cases were identified through sequential serology, and unaffected age- and gender-matched controls were selected. Medical records were systematically reviewed for indications for and evidence of clinical testing. RESULTS:Of 47 557 adults, 408 cases of undiagnosed coeliac disease were identified. 408 serology negative matched controls were selected. Eight-matched pairs were excluded, leading to 800 included individuals (61% female; median age 44.2 years). The odds of any indication for clinical testing were similar among undiagnosed coeliac disease and controls (odds ratio (OR) 1.18; 95% CI: 0.85-1.63, P = 0.32). Most individual indications were not associated with serologic status. Exceptions to this include hypothyroidism, which was more likely in cases of undiagnosed coeliac disease, and dyspepsia and chronic diarrhoea, which were less likely. Cases of undiagnosed coeliac disease were more likely to develop osteoporosis (P = 0.005), dermatitis herpetiformis (P = 0.006), chronic fatigue (P = 0.033), thyroiditis (P = 0.003), autoimmune diseases (P = 0.008), and have a family member diagnosed with coeliac disease (P = 0.001). CONCLUSION:This study strongly suggests that current case finding is not effective in detecting undiagnosed coeliac disease. Individuals with undiagnosed coeliac disease were more likely than controls to develop indications for testing overtime. A more effective method for detection of coeliac disease is needed.

SUBMITTER: Hujoel IA

PROVIDER: S-EPMC5910260 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Natural history and clinical detection of undiagnosed coeliac disease in a North American community.

Hujoel I A IA Van Dyke C T CT Brantner T T Larson J J King K S KS Sharma A A Murray J A JA Rubio-Tapia A A

Alimentary pharmacology & therapeutics 20180325 10

<h4>Background</h4>Coeliac disease is a substantially underdiagnosed disorder, with clinical testing currently guided by case finding.<h4>Aim</h4>To determine the presence of indications for diagnostic testing and frequency of clinical testing in undiagnosed coeliac disease.<h4>Methods</h4>This was a case-control study of adults without prior diagnosis of coeliac disease. Undiagnosed cases were identified through sequential serology, and unaffected age- and gender-matched controls were selected. ...[more]

PMID: 29577349

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Project description:BackgroundHigh rates of species discovery and loss have led to the urgent need for more rapid assessment of species diversity in the herpetofauna. DNA barcoding allows for the preliminary identification of species based on sequence divergence. Prior DNA barcoding work on reptiles and amphibians has revealed higher biodiversity counts than previously estimated due to cases of cryptic and undiscovered species. Past studies have provided DNA barcodes for just 14% of the North American herpetofauna, revealing the need for expanded coverage.Methodology/principal findingsThis study extends the DNA barcode reference library for North American herpetofauna, assesses the utility of this approach in aiding species delimitation, and examines the correspondence between current species boundaries and sequence clusters designated by the BIN system. Sequences were obtained from 730 specimens, representing 274 species (43%) from the North American herpetofauna. Mean intraspecific divergences were 1% and 3%, while average congeneric sequence divergences were 16% and 14% in amphibians and reptiles, respectively. BIN assignments corresponded with current species boundaries in 79% of amphibians, 100% of turtles, and 60% of squamates. Deep divergences (>2%) were noted in 35% of squamate and 16% of amphibian species, and low divergences (<2%) occurred in 12% of reptiles and 23% of amphibians, patterns reflected in BIN assignments. Sequence recovery declined with specimen age, and variation in recovery success was noted among collections. Within collections, barcodes effectively flagged seven mislabeled tissues, and barcode fragments were recovered from five formalin-fixed specimens.Conclusions/significanceThis study demonstrates that DNA barcodes can effectively flag errors in museum collections, while BIN splits and merges reveal taxa belonging to deeply diverged or hybridizing lineages. This study is the first effort to compile a reference library of DNA barcodes for herpetofauna on a continental scale.

Dataset Information

Natural history and clinical detection of undiagnosed coeliac disease in a North American community.

Publications

Natural history and clinical detection of undiagnosed coeliac disease in a North American community.

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