Adult Celiac Disease Research Articles

Jejunojejunal Intussusception as Initial Presentation of Coeliac Disease: A Case Report and Review of Literature

Intussusception as the initial presentation of coeliac disease has been rarely reported, with an incidence of 1% in all coeliac disease presentations. Furthermore, intussusception requiring surgical reduction as the primary presentation for coeliac disease in adults is even rarer. Presented here is a case of a 37-year-old female Asian patient who presented with abdominal pain and distension; she was diagnosed with small bowel obstruction due to jejunojejunal intussusception and required surgical reduction as the initial presentation of coeliac disease.

Expanded Role of a Dietitian in Monitoring a Gluten-Free Diet in Patients with Celiac Disease: Implications for Clinical Practice.

Access to a registered dietitian experienced in celiac disease (CD) is still limited, and consultation when available focuses primarily on the elimination of gluten from the diet. Thus, the aim of this study was to evaluate the nutritional value of a gluten-free diet (GFD) in adult CD patients before, and one year after, the standard dietary education. The study included 72 CD patients on a GFD and 30 healthy controls. The dietary intake of both groups was assessed through a 3-day food diary, while adherence to a GFD in celiac subjects was assessed using Standardized Dietician Evaluation (SDE). Subsequently, all CD patients received detailed education on gluten sources, and 48 of them participated in a one-year follow-up. Results: Comparison with the control group showed that consumption of plant protein in CD patients was significantly lower, whereas fat and calories were higher. At baseline, only 62% of CD patients adhered to a GFD, but the standard dietary education successfully improved it. However, the nutritional value of a GFD after one year did not change, except for a reduced sodium intake. The CD subjects still did not consume enough calcium, iron, vitamin D, folic acid or fiber. In conclusion, while the standard dietary education improved GFD adherence, it did not significantly alter its nutritional value. Therefore, it is necessary to increase the role of a dietitian in the treatment of CD.

What is the Optimal Method Assessing for Persistent Villous Atrophy in Adult Coeliac Disease?

Methods of assessing gluten-free diet (GFD) adherence in adults with coeliac disease (CD) include serological testing, dietitian evaluation, questionnaires and repeat duodenal biopsies. Persisting villous atrophy (VA) is associated with CD complications, however gastroscopy with biopsies is expensive and invasive. This study aimed to assess the abilities of a duodenal bulb (D1) biopsy and the Celiac Dietary Adherence Test (CDAT) to detect persisting VA in adults with CD. A prospective observational study of adult CD patients referred for follow-up duodenal biopsies was performed. Quadrantic biopsies were taken from the second part of the duodenum (D2), in addition to a D1 biopsy. Patients underwent follow-up serological testing, and completed the CDAT and Biagi Score. These non-invasive adherence markers were compared against duodenal histology. 368 patients (mean age 51.0 years, 70.1% female) had D1 and D2 biopsies taken at follow-up gastroscopy. Compared to D2 biopsies alone, additional D1 biopsies increased detection of VA by 10.4% (p<0.0001). 201 patients (mean age 50.3 years, 67.7% female) completed adherence questionnaires and serology. When detecting VA, sensitivities and specificities of these markers were 39.7% and 94.2% for IgA- tTG, 38.1% and 96.4% for IgA-EMA, 55.6% and 52.2% for CDAT and 20.6% and 96.4% for the Biagi score. Bulbar biopsies increase detection of persisting VA by 10.4%. Serology, CDAT and Biagi performed poorly when predicting VA. The gold standard for predicting persisting VA remains repeat biopsy.

The α-Gliadins in Bread Wheat: Effect of Nitrogen Treatment on the Expression of the Major Celiac Disease Immunogenic Complex in Two RNAi Low-Gliadin Lines.

Celiac Disease (CD) is an autoimmune disorder that affects approximately 1% of the worldwide population. The α-gliadins of wheat contain the 33-mer peptide, the most active peptide in CD both in adults and pediatric patients. In this study, we have characterized the variants and expression profile of an α-gliadins amplicon, harboring the 33-mer peptide, in two low-gliadin RNAi wheat lines, under two different Nitrogen (N) treatments. We estimated that the amplicon expands 45 different α-gliadin variants with high variability due to length, randomly distributed SNPs, and the presence of encoded CD epitopes. Expression of this amplicon is reduced in both RNAi lines in comparison to the wild type. High N treatment significantly increases transcripts of the amplicon in the wild type, but not in the transgenic lines. Classification of α-gliadin variants, considering the number of epitopes, revealed that amplicon variants containing the full complement of 33-mer peptide were affected by N treatment, increasing their expression when N was increased. Line D793 provided higher and more stable silencing through different N fertilization regimes, expressing fewer CD epitopes than D783. Results of this study are important for better understanding of RNAi α-gliadin silencing in response to N treatments, and for undertaking new strategies by RNAi or CRISPR/Cas toward obtaining new varieties suitable for people suffering gluten intolerances.

Relationship between duodenal microbiota composition, clinical features at diagnosis, and persistent symptoms in adult Coeliac disease

BackgroundDuodenal dysbiosis has been suggested to possibly influence the clinical manifestations of coeliac disease (CD), both at onset and when symptoms persist despite a gluten-free diet (GFD). AIMSTo evaluate the relationship between duodenal microbiota composition and: i) clinical phenotype of untreated CD (UCD); ii) presence and type of persistent symptoms despite a satisfactory serological and histological response to a strict GFD. MethodsDuodenal microbiota was analyzed by 16S rRNA sequencing and compared with i) clinical features in 12 adult UCD patients; ii) presence/absence and type of persistent symptoms (diarrhea-predominant vs. non-diarrhea predominant) in 25 adult treated coeliac patients (TCD) on a strict GFD. ResultsUCD with iron deficiency anemia (IDA) had a pro-inflammatory shift in their duodenal microbiota (reduction of Firmicutes, p = 0.03; increase of beta-Proteobacteria, p = 0.02) than those without IDA. TCD with persistent diarrhea showed a reduction of Actinobacteria (p = 0.03) and Rothia spp (p = 0.046) compared to TCD suffering from other type of persistent symptoms. ConclusionA distinctive duodenal microbiota profile is associated with IDA in UCD, and diarrhea-predominant persistent symptoms in TCD. Clinical interventions may include reconsidering patients presenting with IDA as a specific disease subtype, and dietary rebalancing if diarrhea persists despite histological response to a GFD.

Salivary Microbiome in Pediatric and Adult Celiac Disease.

The human salivary microbiota includes hundreds of bacterial species. Alterations in gut microbiota have been explored in Celiac Disease (CD), but fewer studies investigated the characteristics of salivary microbiome in these patients, despite the potential implications in its pathogenesis. Indeed, some recent studies suggested that the partial digestion of gluten proteins by some bacteria may affect the array of gluten peptides reaching the gut and the way by which those are presented to the intestinal immune system. The available clinical studies investigating the salivary microbiota in children and adults, are insufficient to make any reliable conclusion, even though some bacterial species/phyla differences have been reported between celiac patients and controls. However, the salivary microbiome could correlate better with the duodenal microbiota, than the fecal one. Therefore, further clinical studies on salivary microbiome by different and independent research groups and including different populations, are advisable in order to explore the usefulness of the salivary microbiome analysis and understand some aspects of CD pathogenesis with potential clinical and practical implications.

The impact of celiac disease and duration of gluten free diet on anterior and posterior ocular structures: Ocular imaging based study.

To evaluate the eyes of adult celiac disease (CD) patients and investigate the association between these ocular parameters with celiac specific antibodies and duration of gluten free diet (GFD). This cross-sectional study included 72 eyes of 36 CD patients (18-51 years of age) and 70 eyes of 35 age- and sex-matched healthy controls. In addition to a complete ophthalmologic examination, all patients were scanned by a Scheimpflug camera, specular microscopy and spectral domain optical coherence tomography. Endothelial cell density (ECD), anterior chamber angle (ACA) degrees, anterior chamber depth (ACD), anterior chamber volume (ACV) and central macular thickness (CMT) values were lower in CD patients as compared with control group (p values = 0.038, 0.024, 0.002, 0.038 and 0.046 respectively). ECD and CMT were lower in celiac patients whom endomysial antibodies (EMA) IgA were positive (p = 0.001, p = 0.042 respectively). Tissue transglutaminase IgA antibody (anti tTG IgA) was weakly positively correlated (p > 0.05) with ACD, and positively (r = 0.319; p < 0.05) correlated with ACV. As the duration of compliance to the diet increased in the celiac group the mean and inferior retinal nerve fiber layer (RNFL) thickness decreased (p = 0.035, p = 0.008 respectively). Mean, inferior and temporal RNFL thicknesses were lower in celiac patients whose duration of GFD was longer than 5 years (p < 0.05). Decreases in ECD, ACA degree, ACD, ACV and CMT can occur in CD patients. In adult celiac patients; ECD, CMT might be effected in the presence of positive EMA, and ACD, ACV might be effected in the presence of higher anti tTG IgA titer. Adult celiac patients who had longer duration of GFD may have thinner RNFL. RNFL may be thinner in celiac patients who comply with GFD for more than 5 years.

Relationship between Persistent Gastrointestinal Symptoms and Duodenal Histological Findings after Adequate Gluten-Free Diet: A Gray Area of Celiac Disease Management in Adult Patients

A gluten-free diet (GFD) leads to a rapid improvement in gastrointestinal (GI) symptoms, biochemical alterations and duodenal histological damage in the majority of celiac disease (CD) patients. This study aimed to assess the frequency and factors associated with the persistence of GI symptoms/malabsorption signs and their relationship with duodenal histological findings among CD patients on an adequate GFD (mean duration 16 months, range 12–28 months). This longitudinal cohort study included 102 adult CD patients (median age 38.5 years, range 18–76 years, F = 71.6%) diagnosed between 2012 and 2018. A total of 36.3% of the included patients had persistent GI symptoms and/or malabsorption signs (Group 1), while the remaining patients had complete GI well-being without malabsorption signs (Group 2) at the time of histological re-evaluation. The persistence of GI symptoms/signs was associated with a long duration of symptoms/signs before CD diagnosis (≥5 years) (OR 5.3; 95% CI 1.3–21.8) and the presence of constipation at the time of CD diagnosis (OR 7.5; 95% CI 1.3–42) while for other variables, including age at CD diagnosis, sex, duration of GFD, comorbidities, CD serology positivity and severity of duodenal damage at histological re-evaluation, no association was found. According to our results, the persistence of symptoms/signs is not associated with histological findings, and their relationship could be a gray area in CD management.

Prevalence, incidence and clinical features of SARS-CoV-2 infection in adult coeliac patients.

ObjectivesData on SARS-CoV-2 disease (COVID-19) in adult coeliac disease (CD) are lacking. The aim of the present study is to evaluate the epidemiology and clinical features of COVID-19 in adult coeliac patients regularly followed-up at our centre since January 2015.MethodsData about general health status and clinical features of laboratory-confirmed COVID-19 were prospectively collected over the phone. Data about CD were retrospectively collected from clinical notes. Prevalence and incidence of COVID-19 were compared between the coeliac cohort and the figures in the general population of Lombardy, Northern Italy between 20 February to 5 June 2020 provided by the Italian National Institute of Health (Istituto Superiore di Sanità) and the Lombardy regional government.ResultsNine out of 324 patients contracted COVID-19, thus resulting in a prevalence of 2.78% [95% confidence interval (CI) 0.98–4.58] and an incidence rate of 8.15/1000 person-month (95% CI 4.24–15.66). Prevalence of COVID-19 ascertained by means of nasal swab was 1.79% (95% CI 0.22–3.35) and the incidence rate 5.26/1000 person-month (95% CI 2.19–12.63), without difference from the general population. Clinical type of CD, age, sex, duration and adherence to a gluten-free diet, and mucosal healing did not differ between coeliac patients with and without COVID-19. None of the 9 patients with COVID-19 required hospitalization.ConclusionPatients with CD do not seem to carry an increased risk of COVID-19 compared to the general population and their disease course is mild.

Insight in the diagnosis and treatment of coeliac disease in general practice: A survey and case vignette study among 106 general practitioners

Background Coeliac disease (CD) is a highly prevalent (∼1%) disease that allegedly remains undiagnosed in over 80% of the cases because of atypical symptoms or silent disease. Currently, it is unknown how GPs deal with (suspected) CD. Objectives This study aimed to better understand the diagnostic approach and the clinical reasoning process of GPs concerning CD and concurrently address diagnostic pitfalls. Methods A questionnaire with case vignettes to assess the knowledge, diagnostic reasoning pattern and practice for CD by GPs was developed. It was sent through academic GP research networks (encompassing over 1500 GPs) in two large cities and to smaller practices in rural areas. The questionnaire was composed of seven background questions, 13 questions related to four case vignettes and six additional CD-related questions Results Responses were received from 106 GPs. Knowledge on risk factors for CD and appropriate testing of at-risk populations was limited. Twenty-two percent would diagnose CD in adults exclusively based on serology, without histopathological confirmation. In total, 99% would refer a newly diagnosed patient to a dietitian to initiate a gluten-free diet (GFD). In the absence of symptoms, only 33% would initiate a GFD. Conclusion The results of this study have given us insight into the diagnostic process of GPs encountering patient with gluten-related complaints. Multiple serology test is available and used, while a positive serology test is not always followed up by a gastroduodenal biopsy to confirm the diagnosis. Most GPs would refer a symptomatic CD patient to a dietician for a GFD.

Diagnostic utility of multiple site duodenal biopsies in celiac disease.

Celiac Disease involves the small intestine patchily affecting more frequently the proximal small bowel but the histological changes have been observed till terminal ileum. Of late in addition to D2, the duodenal bulb (D1 region) biopsies have been found helpful in identifying a small group of patients with CD. Therefore, multiple site biopsies are recommended as histological changes are not uniform throughout small intestine. During this present 1.5 years prospective study, we evaluated 84 cases of suspected celiac disease with respect to the light microscopy (D1, D2, and D3 biopsy) and serology (anti tTg and or EMA). Histological examination was done according to Modified Marsh grading system. Out of 84 cases with raised anti tTg, the segmental biopsies significantly increased the diagnostic accuracy from 39/44 cases (88.6%) to 43/44 cases (97.7%) and 44/44 cases (100%) when D2 alone, D1 + D2 and D1 + D2 + D3 biopsies were evaluated, respectively. Of the suspected cases of celiac disease patients (tTg > 10 ULN and associated weight loss, diarrhea), additional D3 biopsy increased the diagnostic yield by 2.1%, compared to D1, D2 region biopsy and 6.38% compared to standard D2 biopsy alone. Of the 28 cases (tTg > 10 times ULN + EMA positive and associated weight loss, diarrhea), the potential celiac disease (histologically Type 1/Normal) cases reduced from 28.5% (standard D2 region alone) to 21.4% and 17.8% when additional biopsies were taken from D1 region and D3 region, respectively, and additional D3 biopsy increased the diagnostic yield by 10.8% (compared to standard D2 biopsy alone) and 3.7% (compared to D1 and D2 biopsy). We believe multiple sites duodenal biopsies including D3 region biopsies might increase the diagnostic accuracy of adult celiac disease in addition to sensitive and specific serologic tests.

Determinants and Trends of Adherence to a Gluten-Free Diet in Adult Celiac Patients on a Long-term Follow-up (2000–2020)

Data on factors governing long-term adherence to a gluten-free diet (GFD) in celiac disease (CD) are scarce. We aimed to determine trends and clinical predictors of long-term GFD adherence in adult CD. Initial and long-term (>3 years) GFD adherence, clinical characteristics at baseline and follow-up were collected retrospectively from celiac patients followed-up over 20 years (2000-2020). Predictors of long-term GFD adherence at diagnosis, and follow-up were evaluated by multivariate logistic regression. 248 patients (37 ± 12 years, 186F, median time on a GFD 90 months) were included. Twenty-five (10.1%) had only short-term follow-up (<3 years) while 223 (89.9%) had initial and long-term dietary assessment. 187/223 (83.9%) patients were initially adherent and 36/223 (16.1%) were not. 17/36 (47.2%) patients initially not adherent become adherent, while only 4/187 (2.1%) initially adherent patients became not adherent. In the long-term, 200/223 (89.7%) were adherent and 21/223 (9.4%) patients were not. Adherence improved more frequently than worsened (OR, 39.5; 95% CI, 11.4-178.5; P < .01). Classical symptoms (diarrhea, weight loss) at diagnosis of CD predicted stricter long-term GFD adherence (OR, 3.27; 95% CI, 1.21-8.81; P = .02), while anemia (OR, 0.31; 95% CI, 0.12-0.82; P = .02) and dermatitis herpetiformis (OR, 0.23; 95% CI, 0.06-0.91; P = .04) predicted poorer long-term adherence. At follow-up, initial GFD adherence (OR, 42.70; 95% CI, 10.70-171.00; P = .04) was the major determinant of long-term GFD adherence. GFD adherence changes over time in <10% of patients, generally improving when it does. Major determinants of long-term GFD adherence are classical symptoms at diagnosis and initial adherence to a GFD. Patients with anemia or dermatitis herpetiformis at diagnosis require stricter dietetic input.

Phenome-wide association study in adult coeliac disease: role of HLA subtype.

Coeliac disease arises in genetically susceptible individuals, in particular in carriers of HLA-DQ2/DQ8 risk alleles and is associated with various comorbidities. Coeliac disease may confer an increased mortality, but the data are conflicting. We aimed to characterize mortality and morbidity in patients with coeliac disease with a special focus on the role of the number of HLA risk alleles. We studied coeliac disease-associated morbidity and mortality in ~500000 participants of the UK Biobank including 2482 individuals with the diagnosis of coeliac disease. We used an unbiased, multivariable Phenome-Wide Association Study (PheWAS) method to uncover the coeliac disease-associated disorders. The tag SNP approach was used to divide the coeliac disease subjects into HLA-DQ2/DQ8-based risk categories. We found 225 ICD-10 codes significantly associated with coeliac disease. During the median follow-up of 10.7years, coeliac disease individuals (n=2482) had higher overall mortality (HR 1.6 [95% CI, 1.4-1.8]) than controls and both an increased occurrence of and an increased mortality from cancer, respiratory and cardiovascular diseases (HR 1.4-1.6). Coeliac disease individuals with 2 HLA-DQ2/8 risk alleles had a similar overall mortality as coeliac disease participants with 0-1 HLA-DQ2/8 alleles, but were more likely to die from lymphoproliferative diseases (HR 7.6 [95% CI, 1.01-57.25]). Our data suggest that the increased mortality from lymphoproliferative diseases is restricted to those coeliac patients with 2 HLADQ2/8 alleles and that a combination of coeliac disease and HLADQ2/8 alleles is needed to increase the susceptibility. Once confirmed, closer monitoring may be warranted in this high-risk subpopulation.

Long-Standing Ulcerative Colitis and Sulphasalazine Treatment Complicated by Adult Celiac Disease

The risk of celiac disease may be increased in patients with inflammatory bowel disease (IBD), however, the precise pathogenetic mechanisms involved remain controversial. In this report, an elderly man with long-standing and extensive ulcerative colitis was treated with daily salazopyrine for over 30 years. His medication was eventually discontinued although endoscopic surveillance studies showed healed colitis with minimal inflammatory change and no dysplasia. He subsequently volunteered as an IBD control in a celiac disease research study. Endomysial and tissue transglutaminase antibodies were unexpectedly positive and a small bowel biopsy showed changes of celiac disease that later responded to a gluten-free diet. Earlier historical duodenal and ileal biopsies had been normal suggesting that changes were new, developing after cessation of the salazopyrine. This unusual presentation “unmasking” celiac disease after cessation of long-standing salazopyrine for colitis raises the potential that the drug may have acted to suppress the inflammatory process in celiac disease and may offer another alternate and inexpensive therapeutic approach.

Non-classical clinical presentation at diagnosis by male celiac disease patients of older age

Background. In a biopsy-proven adult celiac disease (CeD) cohort from the Netherlands, male patients were diagnosed with CeD at significantly older ages than female patients. ObjectivesTo identify which factors contribute to diagnosis later in life and whether diagnostic delay influences improvement of symptoms after starting a gluten-free diet (GFD). Methods. We performed a questionnaire study in 211 CeD patients (67:144, male:female) with median age at diagnosis of 41.8 years (interquartile range: 25–58) and at least Marsh 2 histology. Results. Classical symptoms (diarrhea, fatigue, abdominal pain and/or weight loss) were more frequent in women than men, but sex was not significantly associated with age at diagnosis. In a multivariate analysis, a non-classical presentation (without any classical symptoms) and a negative family history of CeD were significant predictors of older age at diagnosis (coefficients of 8 and 12 years, respectively). A delay of >3 years between first symptom and diagnosis was associated with slower improvement of symptoms after start of GFD, but not with sex, presentation of classical symptoms or age at diagnosis. Conclusion. Non-classical CeD presentation is more prevalent in men and is associated with a diagnosis of CeD later in life. Recognizing CeD sooner after onset of symptoms is important because a long diagnostic delay is associated with a slower improvement of symptoms after starting a GFD.

Accuracy of a no-biopsy approach for the diagnosis of coeliac disease across different adult cohorts

ObjectiveWe aimed to determine the predictive capacity and diagnostic yield of a 10-fold increase in serum IgA antitissue transglutaminase (tTG) antibody levels for detecting small intestinal injury diagnostic of coeliac...

Effect of Bifidobacterium infantis NLS super strain in symptomatic coeliac disease patients on long-term gluten-free diet - an exploratory study.

Bifidobacterium infantis NLS super strain (B. infantis NLS-SS) was previously shown to alleviate gastrointestinal symptoms in newly diagnosed coeliac disease (CD) patients consuming gluten. A high proportion of patients following a gluten-free diet experiences symptoms despite dietary compliance. The role of B. infantis in persistently symptomatic CD patients has not been explored. The aim of the study was to evaluate the effect of B. infantis NLS-SS on persistent gastrointestinal symptoms in patients with CD following a long-term GFD. We conducted a randomised, cross-over, double-blind, placebo-controlled trial in symptomatic adult CD patients on a GFD for at least two years. After one-week run-in, patients were randomised to B. infantis NLS-SS or placebo for 3 weeks with cross-over after a 2-week wash-out period. We estimated changes (Δ) in celiac symptom index (CSI) before and after treatment. Stool samples were collected for faecal microbiota analysis (16S rRNA sequencing). Gluten immunogenic peptide (GIP) excretion in stool and urine samples was measured at each study period. Eighteen patients were enrolled; six patients were excluded due violations in protocol. For patients with the highest clinical burden, CD symptoms were lower in probiotic than in placebo treatment (P=0.046). B. infantis and placebo treated groups had different microbiota profiles as assessed by beta diversity clustering. In probiotic treated groups, we observed an increase in abundance of B. infantis. Treatment with B. infantis was associated with decreased abundance of Ruminococcus sp. and Bifidobacterium adolescentis. GIP excretion in stools and urine was similar at each treatment period. There were no differences in adverse effects between the two groups. B. infantis NLS-SS improves specific CD symptoms in a subset of highly symptomatic treated patients (GFD). This is associated with a shift in stool microbiota profile. Larger studies are needed to confirm these findings. ClinicalTrials.gov: NCT03271138.

Estudios clínicos sobre la enfermedad celíaca (2014-2019): revisión sistemática de la prevalencia de la presentación clínica y enfermedades asociadas por edades

Introducción: La enfermedad celíaca (EC) se caracteriza por una gran variedad de signos, síntomas y enfermedades asociadas en su forma de presentación, incluso puede cursar de forma asintomática. Recientes estudios muestran la variación del espectro clínico según la edad. En niños y niñas pequeñas predomina la forma clásica con síntomas como distensión abdominal, disminución del apetito, diarrea y pérdida de peso. Las manifestaciones atípicas frecuentes en niños mayores son dolor abdominal, estreñimiento, reflujo, vómitos, fatiga, talla baja. En adultos se observa una reducción de la forma de presentación clásica e incremento de la no clásica.Material y métodos: Se realizó una revisión sistemática en la que se han incluido los artículos sobre signos y síntomas de la EC clásica y atípica en niños y adultos, además de las enfermedades que se asocian de forma frecuente a esta patología. Las bases de datos utilizadas para la búsqueda de los artículos fueron PubMed, Web of Science y Scopus, de los últimos seis años (2014-2019). Se han evaluado un total de 164 artículos tras los criterios de selección, de los cuales se han incluido en el estudio los 20 artículos más relevantes.Resultados: La EC se diagnostica con mayor frecuencia en mujeres y a edades más tempranas que a los hombres. En niños menores de dos años predomina la EC clásica, aunque de forma más intensa que en niños y niñas pequeñas. En niños y niñas mayores, adolescentes y edad adulta varía la forma de presentación hacia la atípica o no clásica y asintomática.Conclusiones: El incremento en la prevalencia en los últimos años, gran heterogeneidad de síntomas, enfermedades asociadas y la variación del espectro clínico hacia una forma atípica con síntomas extraintestinales causa retraso en su diagnóstico por lo que deben reconocerse para que se detecte de manera más precoz.

Non-Biopsy Serology-Based Diagnosis of Celiac Disease in Adults Is Accurate with Different Commercial Kits and Pre-Test Probabilities.

Non-biopsy diagnosis of celiac disease is possible in children with anti-transglutaminase 2 antibodies (TGA) > 10× the upper limit of normal (ULN) and positive anti-endomysial antibodies (EMA). Similar criteria have been suggested for adults, but evidence with different TGA assays is scarce. We compared the performance of four TGA tests in the diagnosis of celiac disease in cohorts with diverse pre-test probabilities. Serum samples from 836 adults with either clinical suspicion or family risk of celiac disease were tested with four commercial TGA assays, EmA and celiac disease-associated genetics. The diagnosis was set based on duodenal lesion or, in some cases, using special methods. 137 (57%) patients with clinical suspicion and 85 (14%) of those with family risk had celiac disease. Positive predictive value (PPV) for 10×ULN was 100% in each TGA test. The first non-diagnostic investigations were encountered with ULN 1.0×–5.1× in the clinical cohort and 1.3×–4.9× in the family cohort, respectively. Using the assays’ own cut-offs (1×ULN) the PPVs ranged 84–100%. Serology-based diagnosis of celiac disease was accurate in adults using different commercial kits and pre-test probabilities using 10×ULN. The results also suggest that the ULN threshold for biopsy-omitting approach could be lower.

Low prevalence of upper endoscopic gastrointestinal findings despite high frequency of alarm symptoms at the time of diagnosis in adult coeliac disease

Exclusion of organic disorders involving the upper gastrointestinal (UGI) is a mandatory step before considering a biopsy-avoidance diagnostic strategy for adult coeliac disease. We aim to evaluate the prevalence of alarm symptoms and coincidental UGI endoscopic findings at the time of diagnosis of coeliac disease. To develop consensus criteria to identify patients with coeliac disease requiring a gastroscopy and to evaluate whether alarm symptoms prompting gastroscopy were predictive of endoscopic findings. Presenting symptoms and UGI endoscopic findings at diagnosis of coeliac disease were collected retrospectively in 278 adult patients with coeliac disease diagnosed in Pavia between January 1999 and December 2017. A panel of experts developed criteria to evaluate which clinical scenarios warrant gastroscopy, which was then applied retrospectively to patients diagnosed in Pavia. At least one alarm symptom was present in 177/278 patients, 121/278 met our criteria for gastroscopy. Major UGI endoscopic findings included 3 cases of autoimmune atrophic gastritis, 19 oesophagitis and 20 Helicobacter pylori infections. No organic disorders were found. Prevalence of major endoscopic findings did not differ between patients who met our criteria and those who did not. Despite the high prevalence of alarm symptoms at diagnosis, coincident major UGI endoscopic findings are rare in adult coeliac disease. These results may be relevant for future developments in coeliac disease diagnosis in adults.