Screening for celiac disease in the general population and in high-risk groups

BACKGROUND: Celiac disease (CD) occurs in approximately 1% of the Western population. It is a lifelong disorder that is associated with impaired quality of life (QOL) and an excessive risk of comorbidity and death. OBJECTIVES: To review the literature on screening for CD in relation to the current World Health Organization (WHO) criteria for mass screening. METHODS: We performed a PubMed search to identify indexed papers on CD screening with a publication date from 1900 until 1 June 2014. When we deemed an abstract relevant, we read the corresponding paper in detail. RESULTS: CD fulfills several WHO criteria for mass screening (high prevalence, available treatment and difficult clinical detection), but it has not yet been established that treatment of asymptomatic CD may reduce the excessive risk of severe complications, leading to higher QOL nor that it is cost-effective. CONCLUSIONS: Current evidence is not sufficient to support mass screening for CD, but active case-finding may be appropriate, as we recognize that most patients with CD will still be missed by this strategy. Although proof of benefit is still lacking, screening for CD may be appropriate in high-risk groups

CORRELATION OF ENDOSCOPIC AND HISTOLOGICAL FEATURES IN ADULTS WITH SUSPECTED CELIAC DISEASE IN A REFERRAL CENTER OF MINAS GERAIS, BRAZIL

Context Clinical presentation of celiac disease is extremely variable and the diagnosis relies on serologic tests, mucosal intestinal biopsy and clinic and serologic response to a gluten-free diet. Objectives To correlate the endoscopic and histological aspects of adult patients with suspicion of celiac disease and to evaluate the interobserver histological agreement. Methods Endoscopic aspects of 80 adult patients were evaluated and correlated with the histological features according the Marsh-Oberhuber classification system. The interobserver histological agreement was based on kappa values. Results The symptoms of the patients varied largely, with prominence for chronic diarrhea, present in 48 (60%) patients. The endoscopic aspects related with the duodenal villous atrophy had been observed in 32 (40%) patients. There were confirmed 46 cases of celiac disease, with prevalence of 57.5%. The sensitivity, specificity, positive predictive value and negative predictive value of the endoscopic markers for celiac disease diagnosis were of 60.9%, 88.2%, 87.5% and 62.5%. There was moderate interobserver histological agreement (kappa = 0.46). Conclusions The endoscopic markers of villous atrophy, although not diagnostic, had assisted in the suspicion and indication of the duodenal biopsies for diagnosis proposal. Histology is sometimes contradictory and new biopsies or opinion of another professional can provide greater diagnostic agreement

Combination Testing Using a Single MSH5 Variant alongside HLA Haplotypes Improves the Sensitivity of Predicting Coeliac Disease Risk in the Polish Population

Assessment of non-HLA variants alongside standard HLA testing was previously shown to improve the identification of potential coeliac disease (CD) patients. We intended to identify new genetic variants associated with CD in the Polish population that would improve CD risk prediction when used alongside HLA haplotype analysis. DNA samples of 336 CD and 264 unrelated healthy controls were used to create DNA pools for a genome wide association study (GWAS). GWAS findings were validated with individual HLA tag single nucleotide polymorphism (SNP) typing of 473 patients and 714 healthy controls. Association analysis using four HLA-tagging SNPs showed that, as was found in other populations, positive predicting genotypes (HLA-DQ2.5/DQ2.5, HLA-DQ2.5/DQ2.2, and HLA-DQ2.5/DQ8) were found at higher frequencies in CD patients than in healthy control individuals in the Polish population. Both CD-associated SNPs discovered by GWAS were found in the CD susceptibility region, confirming the previously-determined association of the major histocompatibility (MHC) region with CD pathogenesis. The two most significant SNPs from the GWAS were rs9272346 (HLA-dependent; localized within 1 Kb of DQA1) and rs3130484 (HLA-independent; mapped to MSH5). Specificity of CD prediction using the four HLA-tagging SNPs achieved 92.9%, but sensitivity was only 45.5%. However, when a testing combination of the HLA-tagging SNPs and the MSH5 SNP was used, specificity decreased to 80%, and sensitivity increased to 74%. This study confirmed that improvement of CD risk prediction sensitivity could be achieved by including non-HLA SNPs alongside HLA SNPs in genetic testing