Patients with a functional gastrointestinal disorder (FGID) frequently report abdominal discomfort and bloating after ingesting specific foods. However, evidence on the relationship between foods and symptoms is lacking. In addition, the diagnosis of food hypersensitivity and food intolerance does not seem to be established yet. Food hypersensitivity can be divided into immunologically mediated and non-immunologically mediated forms. The immunologically mediated forms are specifically termed food allergies, whereas the non-immunologically mediated forms are referred to as food intolerances. Various diagnostic tools are required to make an accurate diagnosis of a food allergy or a food intolerance. First, a thorough examination of the history and basic tests to rule out other organic diseases are needed. Next, diagnostic tests for immunoglobulin E-mediated food allergies are required and diseases, such as celiac disease and lactose intolerance, should be differentiated. A diagnosis for non-celiac gluten sensitivity (NCGS) is also required. A double blind, randomized, placebo-controlled, dietary challenge test can be used for diagnosing NCGS and food intolerance. Diagnostic tests for food intolerance, in which scientific evidence is lacking, may result in a misdiagnosis of food hypersensitivity or food intolerance in patients with a FGID. Therefore, an accurate diagnosis of food hypersensitivity or food intolerance based on reliable tests is required.
Celiac Disease ; Diagnosis ; Diagnostic Errors ; Diagnostic Tests, Routine ; Food Hypersensitivity ; Gastrointestinal Diseases ; Glutens ; Humans ; Immunoglobulins ; Lactose Intolerance

Excessive weight gain in children diagnosed with celiac disease (CD) is becoming more common. We describe 2 siblings (9-year and 6 months-old female and 6-year and 9 months-old male) with obesity showing attenuated gastrointestinal and atypical symptoms in which CD was diagnosed in the absence of a known family history of CD. After children's diagnosis, CD in their parents was also investigated. It was detected in their father affected by overweight. The presentation of patients with CD has changed. While patients with overweight and obesity commonly have symptoms such as abdominal pain, reflux, headache, and constipation due to lifestyle factors, CD should also be considered in patients with or without a family history of CD. Careful nutritional status assessment and follow-up monitoring after the diagnosis of CD are mandatory, especially in subjects who are already overweight at the presentation of this disease.
Abdominal Pain ; Celiac Disease ; Child ; Constipation ; Diagnosis ; Fathers ; Female ; Follow-Up Studies ; Headache ; Humans ; Life Style ; Nutritional Status ; Obesity ; Overweight ; Parents ; Recognition (Psychology) ; Siblings ; Weight Gain

PURPOSE: This study aimed to evaluate a possible association between the anti-tissue transglutaminase antibody (anti-tTG) titer and stage of duodenal mucosal damage and assess a possible cut-off value of anti-tTG at which celiac disease (CD) may be diagnosed in children in conjunction with clinical judgment. METHODS: This observational study was conducted at a gastroenterology clinic in a tertiary hospital from April 2012 to May 2013. Seventy children between 6-months and 18-years-old with suspected CD underwent celiac serology and duodenal biopsy. Statistical analyses were done using SPSS 16. Diagnostic test values were determined for comparing the anti-tTG titer with duodenal biopsy. An analysis of variance and Tukey-Kramer tests were performed for comparing the means between groups. A receiver operating characteristics curve was plotted to determine various cut-off values of anti-tTG. RESULTS: The mean antibody titer increased with severity of Marsh staging (p<0.001). An immunoglobulin (Ig) A-tTG value at 115 AU/mL had 76% sensitivity and 100% specificity with a 100% positive predictive value (PPV) and 17% negative predictive value (NPV) for diagnosis of CD (p<0.001, 95% confidence interval [CI], 0.75–1). CONCLUSION: There is an association between the anti-tTG titer and stage of duodenal mucosal injury in children with CD. An anti-tTG value of 115 AU/mL (6.4 times the upper normal limit) had 76% sensitivity, 100% specificity, with a 100% PPV, and 17% NPV for diagnosing CD (95% CI, 0.75–1). This cut-off may be used in combination with clinical judgment to diagnose CD.
Antibodies ; Biopsy ; Celiac Disease ; Child ; Diagnosis ; Diagnostic Tests, Routine ; Duodenitis ; Gastroenterology ; Humans ; Immunoglobulins ; Judgment ; Observational Study ; ROC Curve ; Sensitivity and Specificity ; Tertiary Care Centers ; Wetlands

Artificial intelligence is likely to perform several roles currently performed by humans, and the adoption of artificial intelligence-based medicine in gastroenterology practice is expected in the near future. Medical image-based diagnoses, such as pathology, radiology, and endoscopy, are expected to be the first in the medical field to be affected by artificial intelligence. A convolutional neural network, a kind of deep-learning method with multilayer perceptrons designed to use minimal preprocessing, was recently reported as being highly beneficial in the field of endoscopy, including esophagogastroduodenoscopy, colonoscopy, and capsule endoscopy. A convolutional neural network-based diagnostic program was challenged to recognize anatomical locations in esophagogastroduodenoscopy images, Helicobacter pylori infection, and gastric cancer for esophagogastroduodenoscopy; to detect and classify colorectal polyps; to recognize celiac disease and hookworm; and to perform small intestine motility characterization of capsule endoscopy images. Artificial intelligence is expected to help endoscopists provide a more accurate diagnosis by automatically detecting and classifying lesions; therefore, it is essential that endoscopists focus on this novel technology. In this review, we describe the effects of artificial intelligence on gastroenterology with a special focus on automatic diagnosis, based on endoscopic findings.
Ancylostomatoidea ; Artificial Intelligence ; Capsule Endoscopy ; Celiac Disease ; Colonoscopy ; Diagnosis ; Diagnosis, Computer-Assisted ; Endoscopy ; Endoscopy, Digestive System ; Endoscopy, Gastrointestinal ; Gastroenterology ; Helicobacter pylori ; Humans ; Intestine, Small ; Learning ; Methods ; Neural Networks (Computer) ; Pathology ; Polyps ; Stomach Neoplasms

BACKGROUND/AIMS: Celiac disease is a global health problem. The presentation of celiac disease has unfolded over years and it is now known that it can manifest at different ages, has varied presentations, and is prone to develop complications, if not managed properly. Although the Oslo definitions provide consensus on the various terminologies used in literature, there is no phenotypic classification providing a composite diagnosis for the disease. METHODS: Various variables identified for phenotypic classification included age at diagnosis, age at onset of symptoms, clinical presentation, family history and complications. These were applied to the existing registry of 1,664 patients at Dayanand Medical College and Hospital, Ludhiana, India. In addition, age was evaluated as below 15 and below 18 years. Cross tabulations were used for the verification of the classification using the existing data. Expert opinion was sought from both international and national experts of varying fields. RESULTS: After empirical verification, age at diagnosis was considered appropriate in between A1 ( < 18) and A2 (≥18). The disease presentation has been classified into 3 types–P1 (classical), P2 (non-classical) and P3 (asymptomatic). Complications were considered as absent (C0) or present (C1). A single phenotypic classification based on these 3 characteristics, namely age at the diagnosis, clinical presentation, and intestinal complications (APC classification) was derived. CONCLUSIONS: APC classification (age at diagnosis, presentation, complications) is a simple disease explanatory classification for patients with celiac disease aimed at providing a composite diagnosis.
Age of Onset ; Celiac Disease* ; Classification* ; Consensus ; Diagnosis ; Expert Testimony ; Global Health ; Humans ; India

PURPOSE: Celiac disease is a common non-communicable disease with varied presentations. Purpose of this study was to find the duodeno-endoscopic features in celiac disease and to compare duodeno-endoscopic and histological findings between typical and atypical celiac disease in children. METHODS: Hospital based observational study was conducted at Sir Padampat Mother and Child Health Institute, Jaipur from June 2015 to May 2016. Patients were selected and divided in two groups- typical and atypical celiac disease based upon the presenting symptoms. Upper gastrointestinal endoscopy and duodenal biopsy was performed for serology positive patients. Results were analysed using appropriate statistical test of significance. RESULTS: Out of 101 enrolled patients, 47.5% were male. Age ranged from 1 to 18 years. Study showed that 54.5% were typical and 45.5% were atypical. Patients presenting with atypical symptoms were predominantly of older age group. On endoscopy, scalloping, mosaic pattern, reduced fold height and absent fold height; and in histology, advanced Marsh stage were significantly higher in the typical group. CONCLUSION: Awareness of atypical presentations as well as duodeno-endoscopic features may have considerable practical importance for the diagnosis of celiac disease in children. Scalloping, mosaic pattern, reduced fold height and nodularity are main endoscopic markers of celiac disease in children. Endoscopic markers of duodenal mucosa may be important in early diagnosis of celiac disease, in children subjected to endoscopy for atypical presentations or indication other than suspected celiac disease.
Biopsy ; Celiac Disease* ; Child Health ; Child* ; Diagnosis ; Early Diagnosis ; Endoscopy ; Endoscopy, Gastrointestinal ; Humans ; Male ; Mothers ; Mucous Membrane ; Observational Study ; Pectinidae ; Wetlands

Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A family history of the subject comprising the timing of puberty in the parents and physical examination may provide clues regarding the cause of DP. Delayed onset of puberty is rarely considered a disease in either sex. In fact, DP usually represents a common normal variant in pubertal timing, with favorable outcomes for final height and future reproductive capacity. In adolescents with CDGP, a linear growth delay occurs until immediately before the start of puberty, then the growth rate rapidly increases. Bone age is often delayed. CDGP is a diagnosis of exclusion; therefore, alternative causes of DP should be considered. Functional hypogonadotropic hypogonadism may be observed in patients with transient delay in hypothalamic-pituitary-gonadal axis maturation due to associated conditions including celiac disease, inflammatory bowel diseases, kidney insufficiency, and anorexia nervosa. Permanent hypogonadotropic hypogonadism (pHH) showing low serum value of testosterone or estradiol and blunted follicle-stimulating hormones (FSH) and luteinizing hormones (LH) levels may be due to abnormalities in the central nervous system. Therefore, magnetic resonance imaging is necessary to exclude morphological abnormalities and neoplasia. Moreover, pHH may be isolated, as observed in Kallmann syndrome, or associated with other hormone deficiencies, as found in panhypopituitarism. Baseline or gonadotropin-releasing hormone pituitary stimulated gonadotropin level is not sufficient to easily differentiate CDGP from pHH. Low serum testosterone in male patients and low estradiol values in female patients, associated with high serum FSH and LH levels, suggest a diagnosis of hypergonadotropic hypogonadism. A genetic analysis can reveal a chromosomal abnormality (e.g., Turner syndrome or Klinefelter syndrome). In cases where the adolescent with CDGP is experiencing psychological difficulties, treatment should be recommended.
Adolescent ; Anorexia Nervosa ; Celiac Disease ; Central Nervous System ; Chromosome Aberrations ; Diagnosis ; Estradiol ; Female ; Gonadotropin-Releasing Hormone ; Gonadotropins ; Humans ; Hypogonadism* ; Inflammatory Bowel Diseases ; Kallmann Syndrome ; Lutein ; Magnetic Resonance Imaging ; Male ; Parents ; Physical Examination ; Puberty ; Puberty, Delayed* ; Renal Insufficiency ; Testosterone ; Turner Syndrome

Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS). The patient was a sexagenary man with a history of progressive motor weakness for 2 years. He was highly suspected as having ALS. During evaluation of his neurological symptoms, esophagogastroduodenoscopy (EGD) was performed because he had experienced loose stools and weight loss for the previous 7 months. On EGD, the duodenal mucosa appeared smooth. A biopsy revealed severe lymphoplasma cell infiltration with flattened villi. His serum endomysial antibody (immunoglobulin A) titer was 1:160 (reference, <1:40). Finally, he was diagnosed as having CD, and a gluten-free diet was immediately begun. At a 4-month follow-up, his weight and the quality of his stool had improved gradually, and the neurological manifestations had not progressed.
Amyotrophic Lateral Sclerosis* ; Anemia ; Asia ; Biopsy ; Bone Diseases, Metabolic ; Celiac Disease* ; Diagnosis ; Diet, Gluten-Free ; Eating ; Endoscopy, Digestive System ; Follow-Up Studies ; Humans ; Infertility ; Korea ; Malabsorption Syndromes ; Mucous Membrane ; Neurologic Manifestations* ; Precipitating Factors ; Rare Diseases ; Triticum ; Weight Loss

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. METHODS: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. RESULTS: Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0–14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. CONCLUSION: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.
Anemia, Iron-Deficiency ; Antibodies ; Celiac Disease* ; Child ; Compliance ; Diagnosis ; Diet, Gluten-Free ; Edema ; Female ; Follow-Up Studies ; Glutens ; Humans ; IgA Deficiency ; Jordan* ; Liver ; Pediatrics ; Prevalence ; Retrospective Studies ; Rickets ; Rural Population

PURPOSE: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. METHODS: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded. RESULTS: Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0–14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients. CONCLUSION: CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.
Anemia, Iron-Deficiency ; Antibodies ; Celiac Disease* ; Child ; Compliance ; Diagnosis ; Diet, Gluten-Free ; Edema ; Female ; Follow-Up Studies ; Glutens ; Humans ; IgA Deficiency ; Jordan* ; Liver ; Pediatrics ; Prevalence ; Retrospective Studies ; Rickets ; Rural Population