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In its conventional form, celiac disease (CeD) is characterized by both positive serology and flat villi in the duodenum, and is well known by gastroenterologists and general practitioners. The aim of this review was to shed light on 2 neglected and not yet well-defined celiac phenotypes, that is, seronegative and ultrashort CeD. Seronegative CeD can be suspected in the presence of flat villi, positive HLA-DQ2 and/or HLA-DQ8, and the absence of CeD antibodies. After ruling out other seronegative enteropathies, the diagnosis can be confirmed by both clinical and histologic improvements after 1 year of a gluten-free diet. Ultrashort CeD is characterized by the finding of flat villi in the duodenal bulb in the absence of mucosal damage in the distal duodenum and with serologic positivity. Data on the prevalence, clinical manifestations, histologic lesions, genetic features, and outcome of seronegative and ultrashort CeD are inconclusive due to the few studies available and the small number of patients diagnosed. Some additional diagnostic tools have been developed recently, such as assessing intestinal transglutaminase 2 deposits, flow cytometry technique, microRNA detection, or proteomic analysis, and they seem to be useful in the identification of complex cases. Further cooperative studies are highly desirable to improve the knowledge of these 2 still-obscure variants of CeD.

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BACKGROUND: Studies in Africa, Asia, and Latin America are needed to provide a comprehensive picture of the global incidence of celiac disease (CD). AIM: To describe the serology, endoscopic and histological findings in typical and atypical presentations of pediatric CD at a tertiary referral hospital in an African low/middle income country (LMIC). METHODS: This observational study was conducted on 199 patients with CD from 2010 to 2019. The patients were divided into typical and atypical groups according to the presenting symptoms including 120 and 79 patients respectively. Serology, upper gastrointestinal endoscopy with duodenal biopsy were performed for patients who had symptoms suggestive of CD. The severity of the intestinal damage was graded according to the histo-pathologic Marsh-Oberhuber classification. RESULTS: Chronic diarrhea was the main intestinal presentation in the typical group. Anemia was the most common extraintestinal symptom in both the typical and atypical group. Marsh-Oberhuber type 3b and 3c was significantly higher in the seropositive patients with a P value of 0.007. A significant correlation was observed between the histological grade of the biopsied duodenal mucosa and the clinical presentation (P < 0.001). Age was significantly higher in the atypical group (P value < 0.001). CONCLUSION: Although typical CD was observed in 120 patients in this study, the clinical variability of the condition was frequently observed. Age only was a significant predictor for the appearance of atypical CD. Therefore, CD presentations in LMIC are not different from industrialized countries.

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INTRODUCTION: Low serum titer of anti-tissue transglutaminase (tTG) has been described in various conditions without any evidence of celiac disease (CD). Infectious agents have been suggested to trigger autoimmunity and promote the production of anti-tTG. The aim of this study was to investigate if there is a link between a positive celiac serology and concomitant Helicobacter pylori infection in children. METHODS: The data of 178 pediatric patients who underwent upper gastrointestinal endoscopy due to positive celiac serology were compiled. The patients whose histopathologic findings were not consistent with CD were followed on gluten-containing diet. The changes in the serum level of anti-tTG IgA on the follow-up were compared between H. pylori-infected and noninfected patients after the eradication of H. pylori. RESULTS: Of 155 patients who met the inclusion criteria, 119 (group 1) were diagnosed as CD, and duodenal histopathology of the remaining 36 children (group 2) was not compatible with CD. In group 2, 11 out of 36 (30.5%) patients were infected with H. pylori. After the eradication of H. pylori, anti-tTG IgA level either decreased or dropped below cutoff value in 9/11 (81%) patients while it was 20% in those who were not infected with H. pylori in the 6th month of the follow-up (p = 0.001). CONCLUSION: Our results suggest that H. pylori infection may be the cause of false or transient positive celiac serology. Thus, a positive celiac serology should be carefully interpreted in the presence of H. pylori infection before confirming the diagnosis of this life-long disease.

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Long-term data on pediatric celiac disease (CD) patients after transition to adult care is scarce. We aimed to evaluate patients' adherence to a gluten-free diet (GFD), the normalization of celiac serology and the frequency of follow-up before age 18, and to study changes in adherence and follow-up frequency after transition to adult care. Presenting symptoms, serology and biopsy results, patients' reported GFD adherence, frequency of follow-up visits, and complications before and after 18 years were collected for CD patients diagnosed between 1998 and 2017. Of 441 CD patients diagnosed and followed in childhood, a quarter (108/441) were over 18 y (years) at data collection. Median age at diagnosis 7.1 y (9 months-18 y), at data collection 23 y (18-38 y), disease duration 11.3 y (2-36 y). Below the age of 18 y, most patients 386/436 (88.5%) reported adherence to GFD, and most 372/425 (85.7%) normalized serology. Of the 441 patients, only 3 failed to attend any follow-up visit, and 338/441 (76.6%) attended yearly visits. Over the age 18 y, serology testing was done in 78/108 (72.2%), every 1-3 y in 46/78 (59%). Serology normalized in 61/78 (78.2%). Most adult patients 77/108 (71.5%) never attended a gastroenterology clinic. CD-related complications were rare. Younger age at diagnosis, regular follow-up visits in childhood, resolution of symptoms, and normalization of serology before age 18 were identified as predictors of negative serology after the age of 18 y.Conclusions: Children who have regular follow-up and normalize serology before age 18 years are likely to maintain a GFD and have negative serology as adults. What is Known: • The rate of adherence to gluten-free diet (GFD) is higher among children compared to adults. • Data on long-term follow-up after transition to adult care is scarce. What is New: • Patients diagnosed with CD at a younger age (<12 y), who have yearly follow-up visits, resolution of symptoms, and negative serology in childhood are very likely to maintain GFD and have negative serology as adults. • Even though most patients do not attend GI clinics after transition to adulthood, most adhere to GFD, and complications are rare.

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INTRODUCTION: The prevalence of celiac disease (CD) is increased in diabetes mellitus type 1 (DM1) patients. In most cases, CD is diagnosed in asymptomatic patients and hence periodic screening tests are recommended, but the timing, frequency of tests and indication for duodenal biopsy is unclear. The purpose of this study was to investigate the dynamics of CD serology in DM1 and identify risk factors for CD. METHODS: Celiac serology and duodenal biopsy results from 1990 until 2015 were collected from patients with DM1. The outcome of positive celiac serology, the incidence and risk factors for CD in DM1 patients were investigated. RESULTS: A total of 314 DM1 patients who had celiac serology were identified, with follow-up period up to 23 years. Of 31 patients (9.9%) with positive celiac serology, 11(35.4%) had spontaneous normalization after various time periods. Eighteen patients were diagnosed with CD (58.1% of positive celiac serology, 5.73% of the study cohort). Age under 4.5 years was a risk factor for CD, but not family background of autoimmune diseases or gender. All patients with CD diagnosis were diagnosed during the first 6 years following DM1 diagnosis. CONCLUSION: Screening asymptomatic DM1 patients for CD beyond 6 years after diagnosis is not recommended. Spontaneous normalization of CD serology occurs, and hence, serologic follow-up may be performed. In children with DM1 diagnosis under the age of 4.5 years or with positive CD serology at DM1 diagnosis, there is an increased risk for CD and therefore positive serology should lead to biopsy.

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BACKGROUND: Iron deficiency anaemia (IDA) is common in Pakistani population and an important cause of morbidity. Celiac disease (CD) is an important contributor and its diagnosis is frequently missed especially if present in atypical/non-diarrhoeal form. Non-responders to iron replacement therapy typically raises suspicion of celiac disease as underlying cause. Aim of this study is to determine the frequency of CD in patients with IDA.. METHODS: A cross sectional study was conducted at tertiary health care centre Islamabad from 12th March to 12th September 2016. Two hundred & ninety patients of newly diagnosed IDA age more than 12 years, including both genders were selected trough non-probability purposive method. Patients with overt Blood loss (gastrointestinal, genitourinary, Pulmonary, recent Trauma or Surgery) were excluded. Active worm infestation and inadequate iron intake were also excluded. After informed consent, all the enrolled patients were investigated for presence of Anti-Tissue tansglutaminase antibody (Human Anti TTG IgA type) by ELISA in their serum at pathology laboratory of PIMS. RESULTS: Out of 290 patients of IDA 32 (11%) had celiac disease (p=0.0002), more common in younger age <40 years 24 (75%), predominantly in female 22 (68.75%), more prevailing in Kashmiri population 9(28.12%). CONCLUSIONS: Celiac disease is common in patients who present with IDA. Diagnosis of CD is frequently missed in the absence of classic features and IDA may be the only manifestation of CD..

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BACKGROUND & AIMS: Compliance to a gluten free diet (GFD) in celiac disease (CD) is ideally assessed by dietary interviews, albeit time-consuming. Short dietary questionnaires have been developed for adults but not for children. Primary aim was to compare GFD compliance in celiac children, measured by a short dietary questionnaire against a dietary interview. Secondary aims were correlation between both questionnaires and celiac antibodies and identifying variables predicting noncompliance. METHODS: Between 2012 and 2014, participants in the E-health CoelKids study, completed a short dietary questionnaire and standardized dietary interview together with measurement of anti-tissue transglutaminase antibodies (TG2A). Results of the questionnaires were assigned under similar categories. Factors possibly influencing dietary compliance were recorded. Where appropriate, Pearson's Chi-square test for trend, unpaired t-test, Cohen's kappa and one-way ANOVA were used. RESULTS: 151 of 165 participating patients were studied, 66% were female. Mean age was 11.3 years (2-26, SD 5.4), mean age at CD diagnosis was 4.9 years (1-23, SD 4.0). The short questionnaire and dietary interview correlated poorly, detecting problems in dietary adherence in 14% and 52% of the patients, respectively (Cohen's kappa 0.034). Only the short questionnaire correlated with TG2A (p = 0.003). Only older age was associated with noncompliance, the mean age of completely nonadherent, adherent but committing errors, and strictly adherent patients were 15.5, 11.5 and 10.1 years, respectively (p < 0.001). CONCLUSIONS: Compared to the dietary interview, short dietary questionnaires and TG2A serology failed to detect dietary transgressions in CD children, wherein adolescents were shown to be at highest risk.

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BACKGROUND & AIMS: Current consensus suggests CD to be a multi-systemic disease that could affect any organ system including the liver. It remains under-diagnosed in the US and its prevalence and management in cirrhotic patients has not been studied. Our aim was (1) to estimate the prevalence of CD in cirrhosis, (2) to characterize cirrhotic patients with abnormal celiac serology and normal small bowel biopsy and (3) to evaluate the effect of a GFD on the liver. METHODS: A total of 204 consecutive patients with biopsy proven cirrhosis scheduled for an upper endoscopy (EGD) to assess and treat gastro-esophageal varices (GEV) at the Cleveland Clinic between 5/1/2008 and 5/30/2010 were enrolled in the study and followed for 2 years. RESULTS: CD affects 2.5% of cirrhotic patients and more than twice the prevalence in the general population. Abnormal EMA >1/10 and high hTTG levels >20 IU can be used to diagnose CD in cirrhosis. Sensitivities and specificities are 100% for EMA and 80% and 94% for hTTG, respectively. After a GFD, patients with CD showed a return to normal levels of their celiac serology, small bowel biopsy and liver enzyme abnormalities. CONCLUSIONS: CD is at least twice more common in cirrhotic patients than in the general population and GFD improves liver tests. CD can occur coincidentally with other liver disorders and screening may be warranted during the evaluation of patients with cirrhosis. Abnormal EMA and high hTTG levels can be used to diagnose CD in cirrhosis.

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