American College of Gastroenterology Guidelines Update: Diagnosis and Management of Celiac Disease.

This guideline presents an update to the 2013 American College of Gastroenterology Guideline on the Diagnosis and Management of Celiac Disease with updated recommendations for the evaluation and management of patients with celiac disease (CD). CD is defined as a permanent immune-mediated response to gluten present in wheat, barley, and rye. CD has a wide spectrum of clinical manifestations that resemble a multisystemic disorder rather than an isolated intestinal disease, and is characterized by small bowel injury and the presence of specific antibodies. Detection of CD-specific antibodies (e.g., tissue transglutaminase) in the serum is very helpful for the initial screening of patients with suspicion of CD. Intestinal biopsy is required in most patients to confirm the diagnosis. A nonbiopsy strategy for the diagnosis of CD in selected children is suggested and discussed in detail. Current treatment for CD requires strict adherence to a gluten-free diet (GFD) and lifelong medical follow-up. Most patients have excellent clinical response to a GFD. Nonresponsive CD is defined by persistent or recurrent symptoms despite being on a GFD. These patients require a systematic workup to rule out specific conditions that may cause persistent or recurrent symptoms, especially unintentional gluten contamination. Refractory CD is a rare cause of nonresponsive CD often associated with poor prognosis.

Delayed Diagnosis in a Male With Congenital Chloride Losing Diarrhea.

Congenital chloride diarrhea is a secretory type of diarrhea, inherited in as autosomal recessive. Our case involves a 12-month-old male who initially presented in infancy and was treated with an exclusive elemental formula diet. At 12 months of age, he presented with significant hypokalemia, hypochloremia, and metabolic alkalosis. The diagnosis was established with stool electrolytes demonstrating a stool chloride of 145 mmol/L. He initially was treated with sodium and potassium supplementation and a proton pump inhibitor. Genetic testing revealed a large 4.3-kb deletion encompassing exons 15 to 17 of the SLC26A3 gene and a sequence variant of the SLC26A3 gene, c.610T>G; pTyr204Asp initially reported as a variant of unknown significance. His parents had genetic testing confirming that the deletion and sequence variant were found in opposite alleles in the patient, meaning the sequence variant is a pathogenic variant. He is maintaining stable serum electrolytes and gaining appropriate weight on oral electrolyte supplementation.

The Diagnostic Error Index: A Quality Improvement Initiative to Identify and Measure Diagnostic Errors.

OBJECTIVE: To develop a diagnostic error index (DEI) aimed at providing a practical method to identify and measure serious diagnostic errors. STUDY DESIGN: A quality improvement (QI) study at a quaternary pediatric medical center. Five well-defined domains identified cases of potential diagnostic errors. Identified cases underwent an adjudication process by a multidisciplinary QI team to determine if a diagnostic error occurred. Confirmed diagnostic errors were then aggregated on the DEI. The primary outcome measure was the number of monthly diagnostic errors. RESULTS: From January 2017 through June 2019, 105 cases of diagnostic error were identified. Morbidity and mortality conferences, institutional root cause analyses, and an abdominal pain trigger tool were the most frequent domains for detecting diagnostic errors. Appendicitis, fractures, and nonaccidental trauma were the 3 most common diagnoses that were missed or had delayed identification. CONCLUSIONS: A QI initiative successfully created a pragmatic approach to identify and measure diagnostic errors by utilizing a DEI. The DEI established a framework to help guide future initiatives to reduce diagnostic errors.

Health-related Quality of Life in Newly Diagnosed Pediatric Patients With Celiac Disease.

OBJECTIVES: Celiac disease (CD) is a common chronic condition with potential adverse physical and psychosocial implications for affected children. The study purpose was to characterize health-related quality of life (HRQOL) in a large sample of pediatric patients with newly diagnosed CD using the PedsQL 4.0 Generic Core Scales, and compare it to that of healthy children and children with nonceliac gastrointestinal (GI) conditions using historic data. METHODS: The PedsQL was administered to 159 children with newly diagnosed CD and their parents at either the time of diagnostic esophagogastroduodenoscopy or before their initial dietitian appointment for gluten-free diet teaching. Mean parent-report and self-report PedsQL summary and subscale scores were calculated, then compared to published means from a sample of healthy children and a sample of children with nonceliac GI symptoms using 1-sample t tests. RESULTS: Compared to the healthy children, those with newly diagnosed CD had lower Total Scores, Physical Health, Psychosocial Health, Emotional Functioning, and School Functioning on parent report (P < 0.008) with similar findings on self-report. Within the CD sample, clinically significant scores were found in 55.9% for School Functioning, 62.7% for Physical Health, 54.4% for Emotional Functioning, 43.7% for Social Functioning, and 49% for Total Score. CONCLUSIONS: Children and adolescents with newly diagnosed CD had lower HRQOL than healthy children and similar HRQOL to that of patients with nonceliac GI conditions. Patients with deficits in domains such as school or emotional functioning may benefit from early interventions including a Section 504 plan or meeting with a psychologist or social worker.

Assessment of Exocrine Pancreatic Function During Endoscopy in Children.

This article will review briefly the physiology of pancreatic enzyme secretion and the role of stimulated endoscopic testing for assessing exocrine pancreatic function. Published studies in both the pediatric and adult literature are reviewed. The technique and utility of endoscopic pancreatic function testing as the method of choice in the differential diagnosis of pancreatic disorders in childhood is described. Finally, emerging, clinically useful markers that can be measured in the pancreatic fluid will be described.

Frequency of overweight/obesity among a group of children with celiac disease in Iran.

INTRODUCTION: A small number of overweight and obese children with celiac disease (CD) has been reported. AIM: To estimate the prevalence of obesity, underweight and normal weight in a group of Iranian pediatric patients. MATERIAL AND METHODS: In a retrospective study from 2007 to 2015, 225 children less than 18 years old with biopsy-proven CD were enrolled. Data collected included demographic characteristics, clinical presentation, antibody titers and severity of small-bowel mucosal damage. Body mass index (BMI) profile of subjects was calculated based on the age and gender percentile at presentation. RESULTS: The mean ± standard deviation (SD) for age was 7.4 ±3.8 and 62% of patients were female. Fifty-four percent of patients presented with a normal BMI, 43% were underweight, and the remaining patients (3.5%) were overweight/obese. The mean age of underweight and normal weight patients was higher than that of obese/overweight patients. Mean ± SD of TTG titer was higher in overweight/obese and normal weight children compared to underweight subjects. The majority of patients (195/225) had severe enteropathy compatible with Marsh III on duodenal biopsy. Most of the children had gastrointestinal (GI) and extra-intestinal manifestations on presentation. There was no association between severity of histological disease and BMI for age. Five out of eight cases in the obese/overweight group had an index case with CD in their family. CONCLUSIONS: This study highlights the importance of considering celiac disease in children regardless of their BMI. Failure to diagnose CD in children leads to unnecessary diagnostic delays and long-term adverse health consequences.

Using Serum IgE Antibodies to Predict Esophageal Eosinophilia in Children.

OBJECTIVES: Symptoms of eosinophilic esophagitis are variable and can be nonspecific. Food-specific serum immunoglobulin E (IgE) antibodies are frequently found in patients with eosinophilic esophagitis and are obtained using a widely available blood test. Our objective was to evaluate the ability of food-specific IgE antibodies to predict the presence of esophageal eosinophilia. METHODS: We reviewed 144 medical records for pediatric patients having esophageal biopsy and serum analysis for IgE antibodies to food (exploratory group). We performed logistic regression using sex and number of positive food-specific IgE tests to develop a model that predicts ≥15 eosinophils/high-power field (hpf) in the esophagus. We tested the model using 142 additional patients (validation group). RESULTS: The probability of having ≥15 eosinophils/hpf in the esophagus was higher in boys and increased with the number of positive food-specific IgE tests from 12% (95% confidence interval 4.8-26) in girls with 0 foods positive to 86% (95% confidence interval 71-94) for boys with 4 or 5 foods positive. The statistical model using sex and number of positive IgE tests to predict patients having ≥15 eosinophils/hpf showed acceptable discriminative ability (area under the receiver operating characteristic curve 0.80). The performance metrics for the model to predict ≥15 eosinophils/hpf in the validation group were similar (area under the receiver operating characteristic curve 0.75). CONCLUSIONS: Requiring only a blood test and a simple algorithm, analysis for IgE antibodies to food may expedite an esophagogastroduodenoscopy and decrease delays in the diagnosis and treatment of patients with nonspecific gastrointestinal symptoms who have increased eosinophils in the esophagus.

Clinical Spectrum of Celiac Disease in Children in Sistan and Baluchestan Province.

BACKGROUND: The clinical manifestations of celiac disease (CD) have changed in the past decades. There are currently little data describing the initial clinical manifestations of CD in children in Iran. This study describes the initial presentation of children with suspected CD from a geographically defined region in Iran. METHOD: Medical records of children seen in 2007 - 2015 from Sistan and Baluchestan province, Iran, with suspected CD were reviewed. After obtaining TTG-IgA and IgA, subjects were divided into three groups according to presenting symptoms: GI, non-GI, and asymptomatic group. Those with elevated TTG-IgA or a strong clinical suspicion for CD underwent endoscopy with duodenal biopsy. Demographic data, symptoms, laboratory, histopathology findings and the presence of any CD related conditions were recorded. RESULTS: from 344 children who underwent upper endoscopy and intestinal biopsy, 105 cases with marsh 0 - 1 were excluded from the study and 239 cases considered as a definite celiac disease (Mean± SD of age was 6.8 ± 3.9 years with 145 females). GI symptoms were predominant in the younger age groups while non-GI symptoms were more common in the older children. The most frequent GI and Non-GI symptoms were abdominal pain (41.4%), distension (36.4%), diarrhea (32.2%), under nutrition (51.4%), anemia (36.4%), and decreased bone age (35%).  The most common co-morbidities were hypothyroidism (3.7%) and Type 1 diabetes (2.9%). CONCLUSION: GI complaints in Iranian children are a common feature. Screening of children with suspected CD, especially with GI symptom is highly recommended.

NASPGHAN Clinical Report on the Diagnosis and Treatment of Gluten-related Disorders.

Dietary exclusion of gluten-containing products has become increasingly popular in the general population, and currently ∼30% of people in the United States are limiting gluten ingestion. Although celiac disease (CD), wheat allergy (WA), and nonceliac gluten sensitivity (NCGS) constitute a spectrum of gluten-related disorders that require exclusion of gluten from the diet, together these account for a relatively small percentage of those following a gluten-free diet, and the vast majority has no medical necessity for doing so. Differentiating between CD, WA, and NCGS has important prognostic and therapeutic implications. Because of the protean manifestations of gluten-related disorders, it is not possible to differentiate between them on clinical grounds alone. This clinical report will compare and contrast the manifestations of gluten-related disorders, emphasize the importance of differentiating between these conditions, discuss initial and subsequent tests needed to confirm the diagnosis, and provide recommendations on treatment and follow-up for each condition.