Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease

2017 ◽  
Vol 62 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Siba P Paul ◽  
Matthew Hoghton ◽  
Bhupinder Sandhu
Keyword(s):  
Small Bowel ◽  
Coeliac Disease ◽  
Tissue Transglutaminase ◽  
Caucasian Population ◽  
European Guidelines ◽  
Upper Limit ◽  
Poor Understanding ◽  
Very High ◽  
Hla Dq2

The European guidelines for diagnosing coeliac disease in children were revised in 2012. These recommend that in symptomatic children, a diagnosis of coeliac disease can be made without small-bowel biopsies provided their anti-tissue transglutaminase (anti-tTG) titre is >10 times of upper-limit-of-normal (>10×ULN) and anti-endomysial antibody is positive. In order to firm up the diagnosis in these children with very high anti-tTG titre, HLA-DQ2/DQ8 should be checked and be positive. Approximately 25–40% of white Caucasian population has HLA-DQ2/DQ8 haplotype. However, only 0.1–1% of the population will develop coeliac disease. Therefore, HLA-DQ2/DQ8 testing must not be done to ‘screen’ or ‘diagnose’ children with coeliac disease. Its use by paediatricians should be limited to children with anti-tTG>10×ULN, where the diagnosis of coeliac disease is being made on serology alone. A review of case referrals made to a tertiary paediatric gastroenterology centre in Southwest England demonstrated that HLA-DQ2/DQ8 testing is being requested inappropriately both in primary and secondary care suggesting a poor understanding of its role in diagnosis of coeliac disease. This article aims to clarify the role of HLA-DQ2/DQ8 testing for clinicians working in non-specialist settings.

HLA-DQ2 and/or-DQ9 is associated with coeliac disease specific autoantibodies to tissue transglutaminase in families with thyrold autoimmunity

2001 ◽  
Vol 120 (5) ◽  
pp. A393-A393
Author(s):  
D SCHUPPAN ◽  
W DIETERICH ◽  
S HOFMANN ◽  
M HUEFNER ◽  
K USADEL ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Tissue Transglutaminase ◽  
Disease Specific ◽  
Hla Dq2

scholarly journals What is the role of small bowel capsule endoscopy in established coeliac disease?

2020 ◽  
Vol 44 (5) ◽  
pp. 753-761 ◽  
Author(s):  
S. Chetcuti Zammit ◽  
M. Kurien ◽  
D.S. Sanders ◽  
R. Sidhu
Keyword(s):  
Small Bowel ◽  
Coeliac Disease ◽  
Capsule Endoscopy

The role of the immune response against tissue transglutaminase in the pathogenesis of coeliac disease

2004 ◽  
Vol 3 (2) ◽  
pp. 13-20 ◽  
Author(s):  
Tobias Freitag ◽  
Hendrik Schulze-Koops ◽  
Gerald Niedobitek ◽  
Gerry Melino ◽  
Detlef Schuppan
Keyword(s):  
Immune Response ◽  
Coeliac Disease ◽  
Tissue Transglutaminase

scholarly journals Role of Magnetic Resonance Enterography in Differentiating between Fibrotic and Active Inflammatory Small Bowel Stenosis in Patients with Crohn's Disease

2011 ◽  
Vol 1 ◽  
pp. 35 ◽  
Author(s):  
Francesca Fornasa ◽  
Chiara Benassuti ◽  
Luca Benazzato
Keyword(s):  
Crohn’S Disease ◽  
Magnetic Resonance ◽  
Small Bowel ◽  
Crohn's Disease ◽  
Mri Scans ◽  
Magnetic Resonance Imaging Mri ◽  
Glycol Solution ◽  
Small Bowel Segment ◽  
Very High

Objective:To assess the diagnostic accuracy of magnetic resonance imaging (MRI) in prospectively differentiating between fibrotic and active inflammatory small bowel stenosis in patients with Crohn's disease (CD).Materials and Methods:A total of 111 patients with histologically proven CD presenting with clinical and plain radiographic signs of small bowel obstruction underwent coronal and axial MRI scans after oral administration of polyethylene glycol solution. A stenosis was judged present if a small bowel segment had >80% lumen reduction as compared to an adjacent normal loop and mural thickening of >3 mm. At the level of the stenosis, both T2 signal intensity and post-gadolinium T1 enhancement were quantified using a 5-point scale (0: very low; 1: low; 2: moderate; 3: high; and 4: very high). A stenosis was considered fibrotic if the sum of the two values (activity score: AS) did not exceed 1.Results:A small bowel stenosis was identified in 48 out of 111 patients. Fibrosis was confirmed at histology in all of the 23 patients with AS of 0 or 1, who underwent surgery within 3 days of the MRI examination. In the remaining 25 patients (AS: 2–8), an active inflammatory stenosis was suspected and remission of the obstructive symptoms was obtained by means of medical treatment. One of these patients (AS: 2), however, underwent surgery after 14 days, due to recurrence. MRI had 95.8% sensitivity, 100% specificity, and 97.9% accuracy in the diagnosis of fibrotic stenosis.Conclusion:MRI is reliable in differentiating fibrotic from inflammatory small bowel stenosis in CD.

scholarly journals Prevalence of Celiac Disease and Celiac Autoimmunity in the Toba Native Amerindian Community of Argentina

2015 ◽  
Vol 29 (8) ◽  
pp. 431-434 ◽  
Author(s):  
Horacio Vázquez ◽  
María de la Paz Temprano ◽  
Emilia Sugai ◽  
Stella M Scacchi ◽  
Cecilia Souza ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Human Leukocyte ◽  
Screen Test ◽  
Leukocyte Antigen ◽  
Day Range ◽  
Gliadin Peptides ◽  
Endomysial Antibodies ◽  
Very High ◽  
Hla Dq2

BACKGROUND: Celiac disease (CD) is mostly recognized among subjects with a Caucasian ethnic ancestry. No studies have explored conditions predisposing Amerindians to CD.OBJECTIVE: To prospectively assess environmental, genetic and serological conditions associated with CD among members of the Toba native population attending a multidisciplinary sanitary mission.METHODS: An expert nutritionist determined daily gluten intake using an established questionnaire. Gene typing for the human leukocyte antigen (HLA) class II alleles was performed on DNA extracted from peripheral blood (HLA DQ2/DQ8 haplotype). Serum antibodies were immunoglobulin (Ig) A tissue transglutaminase (tTG) and the composite deamidated gliadin peptides/tTG Screen test. Positive cases were tested for IgA endomysial antibodies.RESULTS: A total of 144 subjects (55% female) were screened. The estimated mean gluten consumption was 43 g/day (range 3 g/day to 185 g/day). Genetic typing showed that 73 of 144 (50.7%) subjects had alleles associated with CD; 69 (94.5%) of these subjects had alleles for HLA DQ8 and four had DQ2 (5.5%). Four and six subjects had antibody concentrations above the cut-off established by the authors’ laboratory (>3 times the upper limit of normal) for IgA tTG and deamidated gliadin peptides/tTG screen, respectively. Four of these had concomitant positivity for both assays and endomysial antibodies were positive in three subjects who also presented a predisposing haplotype.CONCLUSION: The present study was the first to detect CD in Amerindians. The native Toba ethnic population has very high daily gluten consumption and a predisposing genetic background. We detected subjects with persistent CD autoimmunity and, at least, three of them fulfilled serological criteria for CD diagnosis.

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