Diagnosis and management of coeliac disease in children

2021 ◽  
Vol 30 (13) ◽  
pp. S6-S10
Author(s):  
Siba Prosad Paul ◽  
Abeeran Ranjan ◽  
Gillian Bremner ◽  
Peter Michael Gillett
Keyword(s):  
Positive Result ◽  
Coeliac Disease ◽  
European Society ◽  
Tissue Transglutaminase ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Serological Screening ◽  
Strict Adherence ◽  
Clinical Support ◽  
Diagnostic Pathways

Coeliac disease (CD) is an autoimmune gluten-dependent condition with a prevalence of 1% in the population, if screened. However, approximately only a third of children with CD are diagnosed. When CD is suspected, serological screening with anti-tissue transglutaminase titres should be performed. Children with a positive result should be referred to a specialist in CD for confirmation of the diagnosis. The European Society for Paediatric Gastroenterology Hepatology and Nutrition revised their diagnostic guidance for CD in 2020 and this article discusses the current diagnostic pathways. Lifelong strict adherence to a gluten-free diet is necessary to prevent complications. Nurses and specialist paediatric dietitians have an important role in recognising and diagnosing CD early, as well as offering ongoing dietary and clinical support.

Gluten-related immunogenic peptides in stool as means to monitor compliance with gluten-free diet in children with newly dia gnosed coeliac disease

2021 ◽  
Vol 75 (6) ◽  
pp. 519-523
Author(s):  
Radim Vyhnánek ◽  
Ziad Khaznadar ◽  
Roman Vyhnánek ◽  
Milan Paulík
Keyword(s):  
Coeliac Disease ◽  
Blood Sample ◽  
Stool Sample ◽  
Tissue Transglutaminase ◽  
Sandwich Elisa ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Newly Diagnosed ◽  
Strict Adherence ◽  
Immunogenic Peptides

Objectives and study: To compare the values of gluten-related immunogenic peptides (GIP) in stool and anti-tissue transglutaminase IgA antibodies (anti-tTG IgA) in blood in children newly diagnosed with coeliac disease (CD). Methods: All children (2–15 y) newly diagnosed with CD between May 2018 and May 2020 at our clinic who complied with the inclusion criteria were invited to join the prospective study. During workup for CD, a stool sample to measure GIP was taken together with a blood sample to measure anti-tTG IgA. All newly diagnosed children were invited 4 months later for a check-up. Children and their caregivers were asked about known non-compliance with the gluten-free diet (GFD), a blood sample was taken to measure the anti-tTG IgA, and a stool sample was collected to measure GIP. Blood was evaluated for anti-tTG IgA by ELISA, and the stool was tested by quantitative Sandwich ELISA designed to detect and quantify GIP using the G12 antibody. Values of GIP and anti-tTG IgA were compared in terms of their relation to the upper limit of normal (ULN) of the particular method. Results: 29 children (18 girls) were enrolled in the study. The values of GIP in stool at the time of diagnosis were above the ULN (0.15 µg/g) in all children. Average 4.21, median 3.29, standard deviation (SD) 3.7. After the four months, all but three (89.7%) had values of GIP in the reference range. Average 0.29, median 0.12, SD 0.73. Similarly, anti-tTG IgA values were above the ULN (9.9 U/mL) at the time of diagnosis in all children. Average 164, median 195, SD 49. Although the anti-tTG IgA levels were lower at check-up in all but one child, only 10 (34.5%) showed values within the normal range, with an average of 27.9, median 12.0, and SD 38.9. All children declared strict adherence to GFD. Discussion: Using the GIP concentration in stool, adherence to GFD in our cohort of children is very good, better than that described in literature. Conclusion: Measuring GIP in stool could prove a more sensitive indicator of adherence to GFD in the early months after the diagnosis of CD when anti-tTG IgA are still elevated above the ULN due to their well-described gradual decrease after GFD initiation.

scholarly journals Non-Invasive Biomarkers for Celiac Disease

2019 ◽  
Vol 8 (6) ◽  
pp. 885 ◽  
Author(s):  
Alka Singh ◽  
Atreyi Pramanik ◽  
Pragyan Acharya ◽  
Govind K. Makharia
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
High Titer ◽  
Invasive Procedure ◽  
Gluten Free Diet ◽  
New Drugs ◽  
Current Status ◽  
Common Disease ◽  
Gluten Free ◽  
Strict Adherence

Once thought to be uncommon, celiac disease has now become a common disease globally. While avoidance of the gluten-containing diet is the only effective treatment so far, many new targets are being explored for the development of new drugs for its treatment. The endpoints of therapy include not only reversal of symptoms, normalization of immunological abnormalities and healing of mucosa, but also maintenance of remission of the disease by strict adherence of the gluten-free diet (GFD). There is no single gold standard test for the diagnosis of celiac disease and the diagnosis is based on the presence of a combination of characteristics including the presence of a celiac-specific antibody (anti-tissue transglutaminase antibody, anti-endomysial antibody or anti-deamidated gliadin peptide antibody) and demonstration of villous abnormalities. While the demonstration of enteropathy is an important criterion for a definite diagnosis of celiac disease, it requires endoscopic examination which is perceived as an invasive procedure. The capability of prediction of enteropathy by the presence of the high titer of anti-tissue transglutaminase antibody led to an option of making a diagnosis even without obtaining mucosal biopsies. While present day diagnostic tests are great, they, however, have certain limitations. Therefore, there is a need for biomarkers for screening of patients, prediction of enteropathy, and monitoring of patients for adherence of the gluten-free diet. Efforts are now being made to explore various biomarkers which reflect different changes that occur in the intestinal mucosa using modern day tools including transcriptomics, proteomics, and metabolomics. In the present review, we have discussed comprehensively the pros and cons of available biomarkers and also summarized the current status of emerging biomarkers for the screening, diagnosis, and monitoring of celiac disease.

scholarly journals Celiac Disease Prevalence Among Children with Dermatologic Pathology: Cross Sectional Study with Clinical Case Series

2021 ◽  
Vol 20 (5) ◽  
pp. 402-406
Author(s):  
Leonid A. Opryatin ◽  
Tatiana E. Borovik ◽  
Elena A. Roslavtseva ◽  
Nikolay N. Murashkin
Keyword(s):  
Celiac Disease ◽  
Positive Result ◽  
Tissue Transglutaminase ◽  
Rapid Test ◽  
Gluten Free Diet ◽  
Hla Typing ◽  
Gluten Free ◽  
Dermatology Department ◽  
Gluten Enteropathy ◽  
Rapid Tests

Background. Celiac disease (gluten enteropathy) is relatively rare disease. However, such patients have higher risk of skin pathology than general the population, and their therapy efficacy is limited by the use of gluten-free diet. Therefore, screening of dermatologic patients on celiac disease may be relevant. Objective. Our aim was to study the prevalence of celiac disease among children with skin pathology. Methods. The study included children hospitalized in dermatology department. Screening for celiac disease included detection in blood serum of antibodies (IgA, IgG, IgM) to tissue transglutaminase via rapid tests. In case of positive result of rapid test, we have repeated the estimation of antibodies (IgA, IgG) to tissue transglutaminase via immunochemiluminescent method with ImmunoCAP technology or via enzyme immunoassay. In case of positive serological test, we have performed HLA typing to determine haplotypes of DQ2 and DQ8, as well as esophagogastroduodenojejunoscopy (EGDJS) with biopsy of the duodenal and jejunal mucosa for further histological verification of the diagnosis. Results. We examined 1,000 children with various dermatologic pathologies. Rapid tests showed positive result in 21 patients (2.1%; 95% C11.3-3.2%). The presence of antibodies to tissue transglutaminase was confirmed via additional serological examination in all cases. HLA-haplotypes DQ2/8 were revealed in all patients with positive rapid test results. Typical form of gluten enteropathy was confirmed in 18/21 patients (86%) according to a histological study, thus, estimated prevalence of celiac disease is 1.8% (95% C11.1-2.8%). Conclusion. The prevalence of celiac disease remains underestimated among children with skin diseases. More studies are needed on the diagnostic features of rapid tests on tissue transglutaminase, as well as the benefits of screening for celiac disease to achieve patient-relevant clinical outcomes of skin pathology with wider gluten-free diet.

scholarly journals Coeliac disease: a diverse clinical syndrome caused by intolerance of wheat, barley and rye

2005 ◽  
Vol 64 (4) ◽  
pp. 434-450 ◽  
Author(s):  
Norma McGough ◽  
John H. Cummings
Keyword(s):  
Coeliac Disease ◽  
Bone Fractures ◽  
Tissue Transglutaminase ◽  
Clinical Syndrome ◽  
Gluten Free Diet ◽  
Autoimmune Response ◽  
Intestinal Biopsy ◽  
Bowel Habit ◽  
Jejunal Mucosa ◽  
Gluten Free

Coeliac disease is a lifelong intolerance to the gluten found in wheat, barley and rye, and some patients are also sensitive to oats. The disease is genetically determined, with 10% of the first-degree relatives affected and 75% of monozygotic twins being concordant. Of the patients with coeliac disease 95% are human leucocyte antigen (HLA)-DQ2 or HLA-DQ8 positive. Characteristically, the jejunal mucosa becomes damaged by a T-cell-mediated autoimmune response that is thought to be initiated by a 33-mer peptide fragment in A2 gliadin, and patients with this disorder have raised levels of anti-endomysium and tissue transglutaminase antibodies in their blood. Coeliac disease is the major diagnosable food intolerance and, with the advent of a simple blood test for case finding, prevalence rates are thought to be approximately 1:100. Classically, the condition presented with malabsorption and failure to thrive in infancy, but this picture has now been overtaken by the much more common presentation in adults, usually with non-specific symptoms such as tiredness and anaemia, disturbance in bowel habit or following low-impact bone fractures. Small intestinal biopsy is necessary for diagnosis and shows a characteristically flat appearance with crypt hypoplasia and infiltration of the epithelium with lymphocytes. Diet is the key to management and a gluten-free diet effectively cures the condition. However, this commitment is lifelong and many aisles in the supermarket are effectively closed to individuals with coeliac disease. Compliance can be monitored by measuring antibodies in blood, which revert to negative after 6–9 months. Patients with minor symptoms, who are found incidentally to have coeliac disease, often ask whether it is necessary to adhere to the diet. Current advice is that dietary adherence is necessary to avoid the long-term complications, which are, principally, osteoporosis and small bowel lymphoma. However, risk of these complications diminishes very considerably in patients who are on a gluten-free diet.

scholarly journals Coeliac disease as the cause of resistant sideropenic anaemia in children with Down's syndrome: Case report

2010 ◽  
Vol 138 (1-2) ◽  
pp. 91-94 ◽  
Author(s):  
Momcilo Pavlovic ◽  
Nedeljko Radlovic ◽  
Zoran Lekovic ◽  
Karolina Berenji ◽  
Zorica Stojsic ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Oral Therapy ◽  
Tissue Transglutaminase ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Duodenal Mucosa ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Atrioventricular Canal ◽  
Related Proteins

Introduction. Coeliac disease (CD) is a permanent intolerance of gluten, i.e. of gliadin and related proteins found in the endosperm of wheat, rye and barley. It is characterized by polygenic predisposition, autoimmune nature, predominantly asymptomatic or atypical clinical course, as well as by high prevalence in patients with Down's syndrome (DS) and some other diseases. Outline of Cases. We are presenting a girl and two boys, aged 6-7 (X=6.33) years with DS and CD recognized under the feature of sideropenic anaemia resistant to oral therapy with iron. Beside mental retardation, low stature and the morphological features characteristic of DS, two patients had a congenital heart disease; one ventricular septal defect and the other atrioventricular canal. In two patients, trisomy on the 21st chromosome pair (trisomy 21) was disclosed in all cells, while one had a mosaic karyotype. All three patients had classical laboratory parameters of sideropenic anaemia: blood Hb 77-89 g/l (X=81.67), HCT 0.26-0.29% (X=0.28), MCV 69-80 fl (X=73), MCH 24.3-30 pg (X=26.77) and serum iron 2-5 ?mol/L (X=4.0). Beside anaemia and in one patient a mild isolated hypertransaminasemia (AST 67 U/l, ALT 62 U/l), other indicators of CD were not registered in any of the children. In addition, in all three patients, we also detected an increased level of antibodies to tissue transglutaminase (atTG) of IgA class (45-88 U/l) so that we performed endoscopic enterobiopsy in order to reliably confirm the diagnosis of CD. In all three patients, the pathohistological finding of the duodenal mucosa specimen showed mild to moderate destructive enteropathy associated with high intraepithelial lymphocyte infiltration, cryptic hyperplasia and lympho-plasmocytic infiltration of the stroma. In all three patients, the treatment with a strict gluten-free diet and iron therapy applied orally for 3-4 months resulted in blood count normalization and the correction of sideropenia. Serum level of the atTG-IgA, repeated after a 12-month diet, was also normal. Conclusion. CD should be taken into consideration in all cases of sideropenic anaemia resistant to iron oral therapy in children with DS. The diagnosis of CD implicates corresponding pathohistological confirmation, while the treatment of sideropenic anaemia and its complications, beside iron preparations, also requires compliance with a gluten-free diet.

Investigation of molecular markers in the diagnosis of refractory coeliac disease in a large patient cohort: Table 1

2008 ◽  
Vol 61 (11) ◽  
pp. 1200-1202 ◽  
Author(s):  
U O’Shea ◽  
M Abuzakouk ◽  
C O’Morain ◽  
D O’Donoghue ◽  
K Sheahan ◽  
...  
Keyword(s):  
Molecular Markers ◽  
T Cell ◽  
Coeliac Disease ◽  
Cell Population ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Histological Lesion ◽  
Strict Adherence ◽  
Small Intestinal ◽  
Refractory Coeliac Disease

Aims:Some patients with coeliac disease, despite strict adherence to a gluten-free diet, continue to have significant symptoms and/or a severe small intestinal histological lesion. The term “refractory coeliac disease” (rCD) is used to describe this condition. The purpose of this study was to investigate the value of tissue molecular markers reported to help in the diagnosis of rCD.Methods:Details on 61 patients with suspected rCD were collected. The clinical and laboratory findings in these patients were carefully evaluated, in part to determine whether patients were adhering to a strict gluten-free diet. The co-expression of CD3 and CD8 on intraepithelial lymphocytes was investigated by monoclonal antibody staining of small intestinal biopsy tissue; a finding of less than 50% CD3+ cells co-expressing CD8 was defined as an aberrant phenotype. T cell receptor gene rearrangement was assessed when a sufficient tissue sample was available.Results:A diagnosis of rCD was made in 38 patients based on clinical, laboratory and histological data. An aberrant intraepithelial lymphocyte population was found in 20 of these patients and in this group a clonal T cell population was found in five of seven patients tested. In the remaining 18 patients, the CD3/CD8 ratio was normal and two of seven tested had a clonal T cell population. After detailed monitoring, a diagnosis of rCD was excluded in the remaining 23 patients.Conclusions:This study supports the use of phenotypic and T cell clonality investigations in identifying patients with true rCD.

scholarly journals Differential IL-13 Production by Small Intestinal Leukocytes in Active Coeliac Disease versus Refractory Coeliac Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Sascha Gross ◽  
Roy L. van Wanrooij ◽  
Petula Nijeboer ◽  
Kyra A. Gelderman ◽  
Saskia A. G. M. Cillessen ◽  
...  
Keyword(s):  
Coeliac Disease ◽  
Potential Role ◽  
Cytokine Production ◽  
Villous Atrophy ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Strict Adherence ◽  
Aberrant Phenotype ◽  
Small Intestinal ◽  
Production Pattern

A small fraction of coeliac disease (CD) patients have persistent villous atrophy despite strict adherence to a gluten-free diet. Some of these refractory CD (RCD) patients develop a clonal expansion of lymphocytes with an aberrant phenotype, referred to as RCD type II (RCDII). Pathogenesis of active CD (ACD) has been shown to be related to gluten-specific immunity whereas the disease is no longer gluten driven in RCD. We therefore hypothesized that the immune response is differentially regulated by cytokines in ACD versus RCDII and investigated mucosal cytokine release after polyclonal stimulation of isolated mucosal lymphocytes. Secretion of theTH2cytokine IL-13 was significantly higher in lamina propria leukocytes (LPLs) isolated from RCDII patients as compared to LPL from ACD patients(P=0.05). In patients successfully treated with a gluten-free diet LPL-derived IL-13 production was also higher as compared to ACD patients(P=0.02). IL-13 secretion correlated with otherTH2as well asTH1cytokines but not with IL-10 secretion. Overall, the cytokine production pattern of LPL in RCDII showed more similarities with LPL isolated from GFD patients than from ACD patients. Our data suggest that different immunological processes are involved in RCDII and ACD with a potential role for IL-13.

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