scholarly journals Clinical Presentation of Celiac Disease and Diagnosis Accuracy in a Single-Center European Pediatric Cohort over 10 Years

Nutrients ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 4131
Author(s):  
Anna Rita Di Biase ◽  
Giovanni Marasco ◽  
Federico Ravaioli ◽  
Luigi Colecchia ◽  
Elton Dajti ◽  
...  

(1) Background: Changes in the clinical presentation of celiac disease (CD) in children have been reported. The guidelines of the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) allow esophagogastroduodenoscopy (EGD) with biopsies to be avoided under specific circumstances. We aimed to assess the clinical picture of pediatric CD patients at diagnosis and to validate ESPGHAN non-biopsy criteria. (2) Methods: Patients with suspected CD or undergoing screening from 2004 to 2014 at the University Hospital in Modena, Italy were enrolled. The accuracy of ESPGHAN non-biopsy criteria and modified versions were assessed. (3) Results: In total, 410 patients were enrolled, of whom 403 were considered for analysis. Of the patients considered, 45 were asymptomatic and diagnosed with CD (11.2%) while 358 patients (88.2%) were symptomatic, of whom 295 were diagnosed with CD. Among symptomatic CD patients, 57 (19.3%) had gastrointestinal symptoms, 98 (33%) had atypical symptoms and 140 (47.4%) had both. No difference was found for the presence of gastrointestinal symptoms at different ages. The non-biopsy ESPGHAN criteria yielded an accuracy of 59.4% with a positive predictive value (PPV) of 100%; 173 out of 308 EGD (56.2%) could have been avoided. The modified 7× and 5× upper limit of normal cut-offs for IgA anti tissue-transglutaminase reached 60.7% and 64.3% of EGD avoided, respectively. (4) Conclusions: Over 10 years, late age at diagnosis and increased rates of atypical CD presentation were found. ESPGHAN non-biopsy criteria are accurate for CD diagnosis and allow half of unneeded EGD to be avoided. Modified versions allowed sparing a greater number of EGD.

2018 ◽  
Vol 36 (5) ◽  
pp. 369-376 ◽  
Author(s):  
Nurit Loberman-Nachum ◽  
Michael Schvimer ◽  
Camila Avivi ◽  
Iris Barshack ◽  
Avishay Lahad ◽  
...  

Background: The clinical, histological, and serological spectrum of celiac disease (CD) vary widely. We aimed to examine relationships between symptoms, serum anti-tissue transglutaminase antibodies (tTG) levels, mucosal damage, and mucosal anti-tTG deposits in pediatric CD. Methods: A retrospective single-center, cohort study of children referred for endoscopy with suspected CD during 2011–2014. We retrieved the clinical data, blindly reviewed duodenal biopsies, and performed immunohistochemical staining for anti-tTG deposits. Patients were classified as monosymptomatic or polysymptomatic. Mucosal anti-tTG deposits were classified according to the location of deposits, dominant intensity, maximal intensity, and percentage of stained area. Results: Of 252 patients with confirmed CD, complete data were available for 100: 37 males in the age range 1.3–16.7 with median 4.0 years. Monosymptomatic patients (n = 54) presented at an older age than polysymptomatic patients (1.3–15.5, median 8.1 vs. 1.3–16.7, median 6.3 years, p = 0.026). Marsh 2–3c was more prevalent in polysymptomatic patients (93 vs. 78%, p = 0.028). The intensity of mucosal anti-tTG deposits correlated with serum anti-tTG levels but not with the clinical presentation. Conclusions: Multiple symptoms and high serum anti-tTG antibody levels correlated with mucosal damage in children with CD. The role of immunohistochemical staining for intestinal anti-tTG mucosal deposits in the diagnosis of borderline CD is not yet established.


2019 ◽  
Vol 147 (11-12) ◽  
pp. 683-687
Author(s):  
Marija Mladenovic ◽  
Nedeljko Radlovic ◽  
Zoran Lekovic ◽  
Biljana Vuletic ◽  
Vladimir Radlovic ◽  
...  

Introduction/Objective. The classic type of celiac disease (CD) is most common in children under two years of age. The aim of this study was to investigate whether breastfeeding, particularly breastfeeding during gluten introduction, and timing of gluten introduction, influence the onset of CD at this age. Methods. We retrospectively analyzed medical records of 93 children, 40 in the first and 53 in the second year, with a classic CD diagnosed at the University Children?s Hospital, Belgrade between 2000 and 2010. The diagnosis of CD was based on the criteria of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) from 1989. Results. Duration of breastfeeding reduced the onset of the CD in the first year p = 0.039 (OR = 1.43 95% CI 1.019?1.899). Also, breastfeeding at the time of gluten introduction significantly delayed the age at diagnosis (F = 1.671, t = 2.39, p = 0.029). The timing of gluten introduction did not affect the age of occurrence of CD in these group of children. Conclusion. Longer breastfeeding, and breastfeeding at the time of gluten introduction, postponed the onset of classic CD in patients up to two years. The association between the occurrence of CD and the time of introduction of gluten in this age group of patients has not been established.


2021 ◽  
Author(s):  
Peter Liptak ◽  
Peter Banovcin ◽  
Robert Rosolanka ◽  
Michal Prokopic ◽  
Ivan Kocan ◽  
...  

Background and aim: COVID-19 can be presented with various gastrointestinal symptoms. Shortly after the pandemic outbreak several machine learning algorithms have been implemented to assess new diagnostic and therapeutic methods for this disease. Aim of this study is to assess gas-trointestinal and liver related predictive factors for SARS-CoV-2 associated risk of hospitalization. Methods: Data collection was based on questionnaire from the COVID-19 outpatient test center and from the emergency department at the University hospital in combination with data from inter-nal hospital information system and from the mobile application used for telemedicine follow-up of patients. For statistical analysis SARS-CoV-2 negative patients were considered as controls to three different SARS-CoV-2 positive patient groups (divided based on severity of the disease). Results: Total of 710 patients were enrolled in the study. Presence of diarrhea and nausea was significantly higher in emergency department group than in the COVID-19 outpatient test center. Among liver enzymes only aspartate transaminase (AST) has been significantly elevated in the hospitalized group compared to patients discharged home. Based on random forest algorithm, AST has been identified as the most important predictor followed by age or diabetes mellitus. Diarrhea and bloating have also predictive importance although much lower than AST. Conclusion: SARS-CoV-2 positivity is connected with isolated AST elevation and the level is linked with the severity of the disease. Furthermore, using machine learning random forest algo-rithm, we have identified elevated AST as the most important predictor for COVID-19 related hos-pitalizations.


2012 ◽  
Vol 49 (3) ◽  
pp. 204-207 ◽  
Author(s):  
Andreia Oliveira ◽  
Eunice Trindade ◽  
Marta Tavares ◽  
Rosa Lima ◽  
Mariana Terra ◽  
...  

CONTEXT - The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. OBJECTIVE - In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). METHODS - When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. RESULTS - Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. CONCLUSION - The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.


2008 ◽  
Vol 45 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Patrícia Lopes de Almeida ◽  
Lenora Gandolfi ◽  
Inês Cristina Modelli ◽  
Rita de Cássia Martins ◽  
Rodrigo Coutinho de Almeida ◽  
...  

BACKGROUND: Several studies have shown that celiac disease, an autoimmune disorder that occurs in genetically susceptible individuals, is highly prevalent among relatives of celiac patients. AIM: To determine the prevalence of celiac disease in a group of first degree relatives of Brazilian celiac patients. METHODS: First degree relatives of celiac patients attending the Brasilia University Hospital Pediatric Gastroenterology Outpatient Clinic or the Celiac Disease Investigation Center, Brasília, DF, Brazil, between March 2001 and November 2004 were invited to undergo serological screening for celiac disease applying the IgA anti-endomysium antibody test (IgA-EMA). All positive IgA-EMA sera underwent a second screening using the IgA anti-tissue transglutaminase antibodies test. Duodenal or small intestinal biopsies were performed in all subjects positive to serological testing. Biopsy samples were classified as type (O) normal, (I) infiltrative, (II) infiltrative hyperplastic, (III) flat destructive, and (IV) atrophic hypoplastic. The final diagnosis was ascertained in subjects showing positive serological tests and a grade I to III small intestinal lesion. RESULTS: Nine new cases of celiac disease were found among the 188 first degree relatives tested (4.8%). CONCLUSION: The present study confirms the high prevalence of celiac disease among first degree celiac patients’ relatives and reinforces the need of extensive diagnostic screening in this specific group.


Author(s):  
Brenda B. Suh-Lailam ◽  
K. Wayne Davis ◽  
Anne E. Tebo

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.


2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Mostafa Abdel-Aziz El-Hodhod ◽  
Iman Ali El-Agouza ◽  
Hala Abdel-Al ◽  
Noha Samir Kabil ◽  
Khaled Abd El-Moez Bayomi

Background. Dental enamel defects (DEDs) are seen in celiac disease (CD). Aim was to detect frequency of CD among such patients. Methods. This study included 140 children with DED. They were tested for CD. Gluten-free diet (GFD) was instituted for CD patients. A cohort of 720, age and sex-matched, normal children represented a control group. Both groups were evaluated clinically. Serum calcium, phosphorus, alkaline phosphatase, serum IgA, and tissue transglutaminase (tTG) IgG and IgA types were measured. Results. CD was more diagnosed in patients with DEDs (17.86%) compared to controls (0.97%) (P<0.0001). Majority of nonceliac patients showed grade 1 DED compared to grades 1, 2, and 3 DED in CD. Five children had DED of deciduous teeth and remaining in permanent ones. After 1 year on GFD, DED improved better in CD compared to nonceliac patients. Gastrointestinal symptoms did not vary between celiac and nonceliac DED patients. Lower serum calcium significantly predicted CD in this cohort. Conclusion. CD is more prevalent among children with DED than in the general population. These DEDs might be the only manifestation of CD; therefore, screening for CD is highly recommended among those patients especially in presence of underweight and hypocalcemia.


2015 ◽  
Vol 9 (2) ◽  
pp. 200-205 ◽  
Author(s):  
Uzma Rani ◽  
Aamer Imdad ◽  
Mirza Beg

Celiac disease (CD) is an immune-mediated disease characterized by permanent gastrointestinal tract sensitivity to gluten in genetically predisposed individuals. It has varied clinical manifestations, ranging from gastrointestinal to extraintestinal, including neurological, skin, reproductive and psychiatric symptoms, which makes its diagnosis difficult and challenging. Known neurological manifestations of CD include epilepsy with or without occipital calcification, attention deficit hyperactivity disorder and ataxia, headache, neuropathies and behavior disorders. We present the case of a 14-year-old female with headaches and blurred vision for 1 year; she was noted to have papilledema on ophthalmic examination with increased cerebrospinal fluid opening pressure on lumber puncture and was diagnosed as a case of pseudotumor cerebri (PTC). Meanwhile her workup for chronic constipation revealed elevated tissue transglutaminase IgA and antiendomysial IgA antibodies. Upper gastrointestinal endoscopy with duodenal biopsy confirmed the diagnosis of CD. The patient was started on a gluten-free diet, leading to resolution of not only gastrointestinal symptoms but also to almost complete resolution of symptoms of PTC. This report describes the correlation of CD and PTC as its neurological manifestation.


2020 ◽  
Vol 19 (5) ◽  
pp. 371-378
Author(s):  
Aelita A. Kamalova ◽  
Daria O. Timofeeva ◽  
Almazia R. Shakirova

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.


2019 ◽  
Vol 6 (5) ◽  
pp. 1855
Author(s):  
Jasraj Bohra ◽  
Virendra K. Gupta ◽  
Ashok Gupta

Background: Celiac disease (CD) is a genetically determined gluten-sensitive enteropathy resulting in nutrient malabsorption, can have extra gastrointestinal tract (GIT) presentations, short stature may be the only presenting clinical feature, even in the absence of gastrointestinal symptoms. The aim and objective of this study was toMethods: This cross-sectional study was performed on 1000 children between ages 5 to 10 year of different schools, in Jaipur, district of Rajasthan. An anthropometric measurement (height, weight) was done for all children. Serum samples were analyze for IgA antibodies to human tissue transglutaminase (tTG) with lower detection limit of 1.0 U/ml and 15 U/ml. Positive samples for tTG antibodies were reanalyzed human endomysial autoantigens (EmA).Results: Out 1000 children screened, six were seropositive, of those four were females and two were males. The serological proportion of CD in this population was 1:166. These Six seropositive group tends to have lower height, weight than the seronegative group, but the difference was only significant for height (P=<0.01).Conclusions: Although gastrointestinal manifestations are important presentation of celiac disease, nevertheless short stature alone or in combination with other symptoms of celiac disease has been present.


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