IMPROVED ADHERENCE TO THE ESPGHAN GUIDELINES IS NECESSARY FOR DIAGNOSING CELIAC DISEASE IN CHILDREN: A SINGLE-CENTER EXPERIENCE

ABSTRACT BACKGROUND: Celiac disease (CD) is an immune-mediated systemic disorder elicited by the ingestion of gluten. The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines published in 2012 suggested a no-biopsy pathway (NBP) for symptomatic children with IgA tissue transglutaminase (TGA-IgA) ≥10x upper limit of normal (ULN). Biopsy confirmation remained mandatory for other cases. OBJECTIVE: This retrospective case note study was aimed at evaluating the adherence to the ESPGHAN 2012 guidelines for diagnosing CD in our unit. METHODS: Forty-three cases with positive TGA-IgA were identified by a laboratory database search from January 2013 to December 2019. 6 of 43 patients were not referred for a confirmation of CD diagnosis. Data was collected on the diagnostic pathways followed, and appropriateness of adherence was compared with the existing ESPGHAN guidelines. RESULTS: A total of 37 cases were included with 35 children diagnosed with CD. 29/35 (83%) were diagnosed via the NBP;15/29 (52%) children did not meet all the criteria required for NBP, but were diagnosed and managed as having CD. 20/35 (57%) children were diagnosed with CD in adherence to the 2012 guidelines. CONCLUSION: The recommended diagnostic guidelines were frequently not implemented; adherence to the guidelines may improve following regular educational sessions. The revised 2020 ESPGHAN guidelines which exclude HLA-DQ2/DQ8 testing would address the issue of diagnosis for the 10/15 NBP cases (with TGA-IgA >10xULN) in our study who did not have HLA testing and were therefore non-adherent to the 2012 diagnostic guidelines. NBP, with the reduced need for endoscopy may be beneficial in resource limited settings.

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Modern Aspects of Celiac Disease Diagnosis in Children

Вопросы современной педиатрии ◽

10.15690/vsp.v19i5.2217 ◽

2020 ◽

Vol 19 (5) ◽

pp. 371-378

Author(s):

Aelita A. Kamalova ◽

Daria O. Timofeeva ◽

Almazia R. Shakirova

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Clinical Manifestations ◽

Disease Diagnosis ◽

Upper Limit ◽

Immune Mediated ◽

Wide Range ◽

Systemic Disorder ◽

Antigen Tests ◽

Celiac Disease Diagnosis

Celiac disease is an immune-mediated systemic disorder caused by gluten in people with genetic predisposition. Celiac disease is characterized by wide range of clinical manifestations (both gastroenterological and extraintestinal), that can complicate the diagnosis. Thus, celiac disease often remains undiagnosed. ESPGHAN has published updated clinical guidelines with adjusted coeliac disease diagnosis algorithms in 2020. It is proposed to determine antibodies to tissue transglutaminase (TGA-IgA) and total IgA within normal content of gluten-containing products in the diet on the first stage of children screening. The diagnosis of celiac disease can be established without small intestine biopsy in case of increased levels of TGA-IgA ≥ 10 of upper limit of normal and presence of antibodies to endomysium (EMA-IgA) in secondary serum. In such cases, ESPGHAN does not recommend any additional genetic testing to confirm celiac disease as it does not increase the reliability of the diagnosis. Antigen tests on class G or A antibodies against native gliadin are not specific and are not recommended for use in the diagnosis of celiac disease.

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Immunoassays for the detection of IgA antibodies to tissue transglutaminase: significance of multiples of the upper limit of normal and inter-assay correlations

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2015-0348 ◽

2016 ◽

Vol 54 (2) ◽

Cited By ~ 2

Author(s):

Brenda B. Suh-Lailam ◽

K. Wayne Davis ◽

Anne E. Tebo

Keyword(s):

Celiac Disease ◽

Indirect Immunofluorescence ◽

Tissue Transglutaminase ◽

Immunofluorescence Assay ◽

Indirect Immunofluorescence Assay ◽

Healthy Individuals ◽

Reference Test ◽

Upper Limit ◽

Iga Antibodies ◽

Diagnostic Pathways

AbstractThe presence of IgA antibodies to tissue transglutaminase (anti-tTg) is associated with variable risk for celiac disease. The use of common multiples of the upper limit of normal (ULN) has been suggested to optimize diagnostic pathways as well as improve harmonization between assays.The characteristics of four anti-tTG IgA assays relative to endomysial IgA (EMA) by indirect immunofluorescence assay (IFA) as reference test were assessed. Commutability between anti-tTG immunoassays and/or EMA based on manufacturer’s recommended cut-off values and three common multiples of ULN (3×, 5× and 10×) was also investigated. Sera from 200 patients and 100 healthy individuals were analyzed.At manufacturer’s cut-off; the sensitivities for the tTG assays ranged from 72.5% to 98.6% and specificities from 60.3% to 99.2%. The percent positive agreements between any anti-tTG and EMA or any two anti-tTG immunoassays varied from 56.7% to 98.0% and 46.7% to 100.0%, respectively. At 3×, 5× or 10× ULNs, the inter-rater reliability as measured by Cohen κ between any two anti-tTG assays were quite variable and ranged from 0.28 to 0.96, 0.26 to 0.89 or 0.13 to 0.78, respectively. Furthermore, the percent positive agreements between any two anti-tTg IgA immunoassays ranged from 83.1% to 98.2%, 92.0% to 100%, or 100%, at 3×, 5× or 10×, respectively.Commutability between tTG IgA immunoassays or tTG IgA and EMA is kit-dependent and common multiples of the ULN are not sufficient to correct for inter-assay variations. Many factors influence the performance of anti-tTG IgA assays which limit their commutability.

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Screening for Celiac Disease in Newly Diagnosed Children with Type I Diabetes

QJM ◽

10.1093/qjmed/hcab113.058 ◽

2021 ◽

Vol 114 (Supplement_1) ◽

Author(s):

M H El Samahy ◽

RA Thabet ◽

DA Ragab ◽

SI Ibrahim

Keyword(s):

Celiac Disease ◽

Type I Diabetes ◽

Tissue Transglutaminase ◽

Type I ◽

Newly Diagnosed ◽

Β Cells ◽

Immune Mediated ◽

Diabetic Children ◽

Total Body

Abstract Background Type I diabetes (T1D) is an autoimmune disease caused by the immune-mediated destruction of insulin-producing pancreatic β cells.. Celiac disease is 5-7 percent more common in people with T1D than in the general population. Objectives The aim of this study was to detect the incidence of coeliac disease among newly diagnosed T1D children by assessment of Anti-tissue Transglutaminase Antibody (anti-tTG), IgA. Methods Fifty children with newly diagnosed T1D and another 15 age and sex –matched healthy individuals were subjected to screening for celiac disease by measuring total body IgA and antiTtg(IgA). Results the incidence of positive anti tTG(IgA) Ab among our T1D patients was found to be 12%. Upon comparing children with positive anti tTG(IgA) Ab with those with negative anti tTG(IgA) Ab we found that children with +ve anti tTG(IgA) Ab were significantly shorter than those with -ve anti tTG(IgA) Ab(p < 0.05). Also HbA1c among our diabetic children with +ve anti tTG(IgA) Ab was significantly higher than those with -ve anti tTG(IgA) (p < 0.05). Gastrointestinal manifestations were significantly higher among T1D patients with anti tTG (IgA)+ve than those with anti tTG(IgA)- ve.(p < 0.001). Conclusion Anti tTG(IgA) Ab levels are elevated in children and adolescents with type 1 diabetes compared with healthy controls with incidence rate of about 12%. Anti tTG(IgA) Ab test can be used as screening test for celiac disease among type1 DM.

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Celiac Disease Presenting as Hemolytic Anemia Mimic: A Case Report

Indian Journal of Clinical Medicine ◽

10.1177/26339447211053438 ◽

2021 ◽

pp. 263394472110534

Author(s):

Anjum Siddiqui ◽

Ruhi Khan

Keyword(s):

Celiac Disease ◽

Hemolytic Anemia ◽

Clinical Presentation ◽

Gastrointestinal Symptoms ◽

Signs And Symptoms ◽

Severe Anemia ◽

Immune Mediated ◽

Systemic Disorder ◽

Variable Combination ◽

Disease Specific

Celiac disease, an immune-mediated enteropathy, results from gluten ingestion in the form of wheat, rye, and barley in genetically susceptible individuals. It is a systemic disorder characterized by a variable combination of gluten-related signs and symptoms, and disease-specific antibodies in addition to enteropathy. The clinical presentation of celiac disease is extremely variable: a small proportion of patients presenting with severe gastrointestinal symptoms and malabsorption, and extraintestinal symptoms, and a large proportion having no symptoms at all. Owing to the varied clinical presentation, diagnosing celiac disease remains a challenge. We present a case of celiac disease presenting with severe anemia and clinical features suggestive of hemolytic anemia, making diagnosis even more difficult.

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CELIAC DISEASE IN CHILDREN FROM MADEIRA ISLAND AND ITS PREVALENCE IN FIRST DEGREE RELATIVES

Arquivos de Gastroenterologia ◽

10.1590/s0004-28032014000200015 ◽

2014 ◽

Vol 51 (2) ◽

pp. 151-154 ◽

Cited By ~ 2

Author(s):

Joana Raquel Henriques OLIVEIRA ◽

António Jorge CABRAL ◽

Elena FERREIRA ◽

Filipa CAPELINHA ◽

Hélder SPÍNOLA ◽

...

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Human Leukocyte ◽

Hla Typing ◽

Intestinal Biopsy ◽

Madeira Island ◽

First Degree Relatives ◽

Small Intestinal Biopsy ◽

Systemic Disorder ◽

Hla Dq2

ContextIt is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients.ObjectivesThe aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives.MethodsA survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended.ResultsHLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02).ConclusionsThe prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.

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Orally Based Diagnosis of Celiac Disease: Current Perspectives

Journal of Dental Research ◽

10.1177/154405910808701206 ◽

2008 ◽

Vol 87 (12) ◽

pp. 1100-1107 ◽

Cited By ~ 11

Author(s):

L. Pastore ◽

G. Campisi ◽

D. Compilato ◽

L. Lo Muzio

Keyword(s):

Celiac Disease ◽

Intestinal Mucosa ◽

Tissue Transglutaminase ◽

Wheat Gluten ◽

Screening Tests ◽

Small Intestinal Mucosa ◽

Immune Mediated ◽

Life Threatening ◽

Histopathologic Findings ◽

Antibody Tests

Celiac disease (CD) is a lifelong immune-mediated disorder caused by the ingestion of wheat gluten in genetically susceptible persons. Most cases of CD are atypical and remain undiagnosed, which exposes the individuals to the risk of life-threatening complications. Serologic endomysial and tissue transglutaminase antibody tests are used to screen at-risk individuals, although a firm diagnosis requires demonstration of characteristic histopathologic findings in the small-intestinal mucosa. A gluten challenge, with a repeat biopsy to demonstrate recurrence of histopathologic changes in the intestinal mucosa after the re-introduction of gluten, is considered for those persons in whom diagnosis remains in doubt. In this paper, we review studies that evaluated: (1) the possibility of using oral mucosa for the initial diagnosis of CD or for local gluten challenge; and (2) the possibility of using salivary CD-associated antibodies as screening tests. Our review shows that orally based diagnosis of CD is attractive and promising, although additional evaluations with standardized collection and analysis methods are needed. There is some evidence of a dissociation between systemic and oral mucosal immune responses in CD. The hypothesis that gluten could stimulate naïve lymphocytes directly in the oral cavity would have important implications for the understanding, diagnosis, and management of CD.

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