Anti-transglutaminase Antibodies Research Articles

Clinical Spectrum of Celiac Disease among Adult Population: Experience from Largest Tertiary Care Hospital in Karachi, Pakistan.

Celiac disease (CD) is a systemic autoimmune enteropathy triggered by dietary gluten in genetically susceptible individuals. Celiac disease affects 0.6-1.0% of the population worldwide. The prevalence of CD in Pakistan is yet unknown due to under diagnosis and lack of awareness. To determine a vast variety of presenting features in subtypes of CD to overcome the burden of disease. This was a prospective, comparative, cross-sectional study conducted at Gastroenterology department of Jinnah Postgraduate Medical Center, Karachi from December 2022 till June 2023. This study included all adult patients ≥18 years diagnosed with CD on the basis of clinical presentation, positive IgA and IgG anti-transglutaminase antibodies (value >12 IU/mL detected by ELISA followed by small intestinal biopsy classified as per Marsh criteria. The data obtained were analyzed on the statistical software SPSS version 23. Descriptive statistics were obtained by frequencies and percentages. About 142 patients were enrolled in the study, 103 (91.5%) had classical CD (CCD) whereas 36 (25%) had non-classical (NCCD). About 89 (62.7%) were females and 53 (37.3%) were males. The mean age was found to be 23 ± 6 years. Nutritional deficiencies including anemia, B12, folate, osteopenia and low body mass index (BMI) <18 was found more in CCD group as compared with NCCD group with significant p-values. Titers of anti-TTG between CCD and NCCD were not statistically significant. Hypothyroidism and PCOS were the most common associated conditions observed in adult CD patients. In conclusion, CD in adults and has diverse presentations. Adults with unexplained extra-intestinal symptoms like anemia and bone pain should be investigated for CD. Butt N, Shahid B, Butt S, et al. Clinical Spectrum of Celiac Disease among Adult Population: Experience from Largest Tertiary Care Hospital in Karachi, Pakistan. Euroasian J Hepato-Gastroenterol 2024;14(1):24-29.

The use of anti-transglutaminase and anti-gliadin antibodies to compare the effect of gluten active and gluten-free diet patients suffering from celiac disease in child and adult

Celiac disease is an autoimmune disorder triggered by the ingestion of gluten in genetically susceptible individuals. The current study aimed to compare the levels of these antibodies in celiac disease patients on active gluten-containing diets and those on gluten-free diets to demonstrate the ability to get rid of Celiac Disease by Gluten-Free Diet. The study involved 100 participants, divided into 60 CD patients and 40 controls, where all participant match in age and gender. The patient group was further divided into two subgroups 40 active celiac and 20 GFD. Blood samples were obtained from all participants, and levels of anti-tTG and anti-gliadin antibodies were using Enzyme-Linked Immunosorbent Assay (ELISA) technology. The results showed The F test indicated a significant difference in the levels of anti-tTG and anti-gliadin antibodies between the active group (G1) and the diet group (G2) in comparison to the control group (G3), with a p-value less than 0.001. Upon conducting a deeper analysis using the least significant difference (LSD) on on anti-tTG IgA and IgG indicate that there are no significant differences between the patient groups G1 and G2, as evidenced by p-values of 0.120 for IgA. However, a significant difference was observed between G1 and G2 for IgG, with a p-value of 0.018. When comparing G1 with G3, and G2 with G3, significant differences were observed, with p-values less than 0.001. In the case of anti-gliadin IgA and IgG, the LSD test revealed a highly significant difference between G1 and G2, as indicated by a p-value less than 0.001. However, no significant differences were found between G1 and G3, with p-values of 0.499 for IgA and 0.110 for IgG. A highly significant difference was none the less observed between G2 and G3, with a p-value less than 0.001.In conclusion, This study highlights the importance of dietary adherence in celiac disease management. Patients on gluten-free diets had significantly lower levels of anti-TG and anti-gliadin antibodies, indicating better control of the autoimmune response. Monitoring these antibody levels can be a valuable tool in assessing the effectiveness of dietary interventions in celiac disease patients.

The use of anti-transglutaminase and anti-gliadin antibodies to compare the effect of gluten active and gluten-free diet patients suffering from celiac disease in child and adult

Celiac disease is an autoimmune disorder triggered by the ingestion of gluten in genetically susceptible individuals. The current study aimed to compare the levels of these antibodies in celiac disease patients on active gluten-containing diets and those on gluten-free diets to demonstrate the ability to get rid of Celiac Disease by Gluten-Free Diet. The study involved 100 participants, divided into 60 CD patients and 40 controls, where all participant match in age and gender. The patient group was further divided into two subgroups 40 active celiac and 20 GFD. Blood samples were obtained from all participants, and levels of anti-tTG and anti-gliadin antibodies were using Enzyme-Linked Immunosorbent Assay (ELISA) technology. The results showed The F test indicated a significant difference in the levels of anti-tTG and anti-gliadin antibodies between the active group (G1) and the diet group (G2) in comparison to the control group (G3), with a p-value less than 0.001. Upon conducting a deeper analysis using the least significant difference (LSD) on on anti-tTG IgA and IgG indicate that there are no significant differences between the patient groups G1 and G2, as evidenced by p-values of 0.120 for IgA. However, a significant difference was observed between G1 and G2 for IgG, with a p-value of 0.018. When comparing G1 with G3, and G2 with G3, significant differences were observed, with p-values less than 0.001. In the case of anti-gliadin IgA and IgG, the LSD test revealed a highly significant difference between G1 and G2, as indicated by a p-value less than 0.001. However, no significant differences were found between G1 and G3, with p-values of 0.499 for IgA and 0.110 for IgG. A highly significant difference was none the less observed between G2 and G3, with a p-value less than 0.001.In conclusion, This study highlights the importance of dietary adherence in celiac disease management. Patients on gluten-free diets had significantly lower levels of anti-TG and anti-gliadin antibodies, indicating better control of the autoimmune response. Monitoring these antibody levels can be a valuable tool in assessing the effectiveness of dietary interventions in celiac disease patients.

Microscopic colitis found together with celiac disease in a female population is associated with one episode of lymphocytic colitis

BackgroundMicroscopic colitis (MC) is considered a chronic disease associated with autoimmune disease, smoking, and drugs. The aim was to examine the association between MC and celiac disease, adjusted for smoking, considering subtypes and clinical course of the disease in a retrospectively collected female cohort.MethodsWomen (n = 240), ≤ 73 years, diagnosed as MC in medical records or pathological registers were invited. One hundred and fifty-eight women accepted to be included. Participants completed a study questionnaire about sociodemographic factors, lifestyle habits, and medical history; the Rome III questionnaire; and the visual analog scale for irritable bowel syndrome (VAS-IBS). Participants were categorized into collagenous colitis (CC) (n = 92) and lymphocytic colitis (LC) (n = 66) or MC with one episode of the disease (n = 70) and refractory MC (n = 88). Presence of IBS-like symptoms were noted. Blood samples were collected and analyzed for anti-transglutaminase antibodies. Differences between groups were calculated and logistic regression was adjusted for smoking habits.ResultsMC and celiac disease debuted simultaneously in half of the cases. Celiac disease was most prevalent in LC (12.1% vs. 3.3%; p = 0.05) and MC with one episode (12.9% vs. 2.3%; p = 0.01). Anti-transglutaminase antibodies were found in one patient with one episode of MC. Corticosteroid use was most often found in CC (37.0% vs. 21.2%; p = 0.037) and refractory MC (38.6% vs. 20.0%; p = 0.015). Past smokers were most prevalent in patients with one episode of MC (54.3 vs. 29.5%; p = 0.007). Current smoking was the smoking habit with highest prevalence of IBS-like symptoms. When adjusted for smoking habits, celiac disease was associated with LC (OR: 4.222; 95% CI: 1.020–17.469; p = 0.047) and tended to be inversely associated with refractory MC (OR: 0.210; 95% CI: 0.042–1.506; p = 0.058).ConclusionCeliac disease is most common in patients with one episode of LC. The question remains whether LC in combination with celiac disease should be classified as celiac disease or two different entities.

Thyroid diseases in children and adults with celiac disease: A cross-sectional study.

There are few reports evaluating different factors, including the severity of duodenal histopathological findings and serological levels of celiac disease (CD), in increasing the probability of thyroid diseases (TD) in adults and children with CD, so, we designed this research. CD was defined as Marsh type 2 or higher in duodenal histopathology and serological levels of anti-transglutaminase antibodies (anti-tTG) equal to or greater than 18 IU/ml. To assess the likelihood of TD in CD patients, logistic regression analysis was employed. 538 patients were included in this study. Of these, 354 (65.8%) were females and 184 (34.2%) were males. 370 (68.8%) patients were children. Overall, 57 (10.6%) patients had TD, of which 49 (9.1%) had hypothyroidism and 8 (1.5%) had hyperthyroidism. Adults had a significantly higher probability of developing TD than children (OR 1.9; 95% CI 1.1-3.4; P = 0.03). The odds of developing TD were also significantly higher in patients with family marriage in parents (OR 2.3; 95% CI 1.1-4.7; P = 0.03). Other variables such as gastrointestinal symptoms, anti-tTG levels, and severity of Marsh classification did not exhibit a substantial rise in the likelihood of TD development. The study findings indicated that the likelihood of developing TD in CD patients can be linked to advancing age and having family marriage in parents, while there was no significant association observed with anti-tTG levels, severity of histological damage, and gastrointestinal symptoms.

The Role of IgA and IgG anti-transglutaminase antibodies in the diagnosis of celiac disease in children

Aims: Diagnosing celiac disease in children presents various challenges for pediatricians in the various clinical stages. Thus, the diagnosis of cases increased significantly, although children did not always present symptoms or clinical signs of the disease. In support of the diagnosis, several factors come into play: screening, serological tests, awareness of the presence of celiac disease and the factors that favor its occurrence. Material and methods: We performed a retrospective study at the Pediatric Clinical Hospital "St. Ioan " Galati between January 1, 2014 and October 2022. In this study we included 2640 children with suggestive symptoms of celiac disease. Results: A number of 102 patients were diagnosed with celiac disease, recurrent abdominal pain being the most common symptom.

Clinical and demographic comparison of celiac disease diagnosed during adulthood versus childhood and adolescence: A single-center experience.

Celiac disease (CeD) is mainly reported from the northern and western parts of India. In central India, it is believed to be a disease of children, with limited data among adults diagnosed for the first time after the age of 18 years. Hence, we aimed to describe CeD's clinical and demographic features among adults and children/adolescents in central India. This is a retrospective analysis of a prospectively maintained database of all patients diagnosed for CeD from 2010 to 2019. The disease in adults was confirmed when symptoms developed for the first time after 18 years and had positive anti-transglutaminase antibodies with villous atrophy on duodenal biopsy. It was compared with pediatric patients with CeD diagnosed during the same time period. Of the 170 patients diagnosed with CeD, 118 were adults and 52 were children or adolescents. The mean age of presentation of adult CeD was 37.3 ± 11.93 years, while in the pediatric and adolescent group it was 9.19 ± 5.4 years. Classical presentation with chronic, painless, small-bowel-type diarrhea was seen in 44.1% of adults compared to 57.7% in the pediatric age group. Among the adult patients, 55.9% presented with nonclassical symptoms, which included abdominal pain (40.7%) and weight loss (36.4%). The common presenting symptom in children other than diarrhea was weight loss (50%) and abdominal pain (34.6%). CeD is common in central India, with an increasing number of patients being diagnosed for the first time after 18 years of age and presenting more often with nonclassical symptoms.

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disorders associated with TS. This work aimed to study the prevalence of autoimmune diseases in TS. A cross-sectional, longitudinal, 25-year follow-up study was conducted of patients from adult Turner centers at the University Hospitals, Sweden. During 1994 to 2020, a total of 503 women aged 16 to 71 years with TS were evaluated consecutively every fifth year according to national guidelines. A random population sample of women, n = 401, aged 25 to 44 years, from the World Health Organization Monitoring of Trends and Determinants for Cardiovascular Disease (MONICA) project served as controls. Serum thyrotropin, free thyroxine, vitamin B12, antithyroid peroxidase (anti-TPO), and antitransglutaminase antibodies were measured. Mean follow-up time (years) was 16 ± 7 for patients and 13 ± 1 for controls. From study start, the prevalence increased in TS for hypothyroidism 40% to 58%, vitamin B12 deficiency 5% to 12%, celiac disease 4% to 7%, positive anti-TPO 26% to 41%, and antitransglutaminase antibodies 6% to 8% (P < .0001 vs controls). Type 1 diabetes and Addison disease were rare. The only interrelationship was between hypothyroidism and vitamin B12 deficiency, both in TS and controls. No association between autoimmune disease and karyotype, antecedent growth hormone treatment, or ongoing estrogen hormone replacement, was seen in TS. In women with TS up to older than 80 years, more than half developed hypothyroidism, mainly autoimmune, during follow-up. Awareness of vitamin B12 deficiency and celiac disease throughout life is also recommended in women with TS.

Epidemiology of Celiac Disease in Northern Morocco in 2018–2021: A Descriptive Cross-Sectional Study

Celiac disease is an autoimmune disease caused by gluten. This retrospective cross-sectional study with descriptive and analytical aims was conducted over three years, from 2018 to 2021. The participants were 280 patients diagnosed with celiac disease registered in the Gluten Intolerant and Allergic Association of the North in the Tangier-Tetouan-Al Hoceima region. The prevalence and incidence of celiac disease in this region were 1/135 and 1/253, respectively. The average age was 21.18 ± 1.13, and the first symptoms appeared between 10 and 25 years. The data showed a female predominance of 68% versus 32% for males, with a male/female sex ratio of 0.45. The clinical signs of celiac disease manifested more in gastrointestinal symptoms. This study obtained data on 22.6% of microcytic hypochromic anemia patients and 40.7% of Helicobacter pylori infections. In addition to celiac disease, the patients showed other pathologies with different rates: repeated spontaneous abortions (2.14%), type 1 diabetes mellitus (1.42%), autism (1.42%), dermatitis herpetiformis (0.72%), cancer(0.72%), and epilepsy (0.35%). Serologically, anti-transglutaminase antibodies were positive in 47.2% of patients. Analyses of histological data from intestinal biopsies from 141 patients were positive in 50.8% of patients. There was a minor correlation between the serological profile and the degree of atrophy.

Epidemiology of Celiac Disease in Northern Morocco in 2018–2021: A Descriptive Cross-Sectional Study

Celiac disease is an autoimmune disease caused by gluten. This retrospective cross-sectional study with descriptive and analytical aims was conducted over three years, from 2018 to 2021. The participants were 280 patients diagnosed with celiac disease registered in the Gluten Intolerant and Allergic Association of the North in the Tangier-Tetouan-Al Hoceima region. The prevalence and incidence of celiac disease in this region were 1/135 and 1/253, respectively. The average age was 21.18 ± 1.13, and the first symptoms appeared between 10 and 25 years. The data showed a female predominance of 68% versus 32% for males, with a male/female sex ratio of 0.45. The clinical signs of celiac disease manifested more in gastrointestinal symptoms. This study obtained data on 22.6% of microcytic hypochromic anemia patients and 40.7% of Helicobacter pylori infections. In addition to celiac disease, the patients showed other pathologies with different rates: repeated spontaneous abortions (2.14%), type 1 diabetes mellitus (1.42%), autism (1.42%), dermatitis herpetiformis (0.72%), cancer(0.72%), and epilepsy (0.35%). Serologically, anti-transglutaminase antibodies were positive in 47.2% of patients. Analyses of histological data from intestinal biopsies from 141 patients were positive in 50.8% of patients. There was a minor correlation between the serological profile and the degree of atrophy.

Hip Fracture Due to Osteomalacia Secondary to Celiac Disease

Background: Hip fracture is uncommon among younger patients but can have devastating consequences. Therefore, hip fracture caused by minimal trauma requires examinations on calcium metabolism to identify the primary cause. Methods: We present a clinical case of an 18-year-old male patient who suffered a subcapital fracture of the left hip due to minimal trauma while playing soccer. The patient immediately underwent surgery, which is closed reduction and internal fixation with two cancellous screws installed. Subsequently, metabolic tests showed severe vitamin D deficiency (27.1 nmol/L - normal above 75 nmol/L) and high levels of IgA anti-transglutaminase antibodies (2502.40 U/mL). Digestive biopsy confirmed the diagnosis of celiac disease, and he was treated with a gluten-free diet and calcium and vitamin D supplements. Results: After two years of follow-up, the patient is pain-free, with full hip mobility. There were no complications (osteosynthesis failure, avascular necrosis or pseudarthrosis) and serum levels of vitamin D, and IgA anti-transglutaminase antibodies had normalized. Conclusion: In young patients presenting with low energy trauma fractures, vitamin D deficiency should be considered as a possible etiology, and the reason for such osteomalacia, such as celiac disease, should be identified.

MAFLD and Celiac Disease in Children.

Celiac disease (CD) is an immune-mediated systemic disorder elicited by the ingestion of gluten whose clinical presentation ranges from the asymptomatic form to clinical patterns characterized by multiple systemic involvement. Although CD is a disease more frequently diagnosed in patients with symptoms of malabsorption such as diarrhea, steatorrhea, weight loss, or failure to thrive, the raised rate of overweight and obesity among general pediatric and adult populations has increased the possibility to diagnose celiac disease in obese patients as well. Consequently, it is not difficult to also find obesity-related disorders in patients with CD, including "metabolic associated fatty liver disease" (MAFLD). The exact mechanisms linking these two conditions are not yet known. The going assumption is that a gluten-free diet (GFD) plays a pivotal role in determining an altered metabolic profile because of the elevated content of sugars, proteins, saturated fats, and complex carbohydrates, and the higher glycemic index of gluten-free products than gluten-contained foods, predisposing individuals to the development of insulin resistance. However, recent evidence supports the hypothesis that alterations in one of the components of the so-called "gut-liver axis" might contribute to the increased afflux of toxic substances to the liver triggering the liver fat accumulation and to the subsequent hepatocellular damage. The aim of this paper was to describe the actual knowledge about the factors implicated in the pathogenesis of hepatic steatosis in pediatric patients with CD. The presented review allows us to conclude that the serological evaluations for CD with anti-transglutaminase antibodies, should be a part of the general workup in the asymptomatic patients with "non-alcoholic fatty liver disease" (NAFLD) when metabolic risk factors are not evident, and in the patients with steatohepatitis when other causes of liver disease are excluded.

Prevalência de outras doenças autoimunes em crianças e adolescentes com diabetes mellitus tipo 1

OBJECTIVE: To evaluate the prevalence of autoimmune markers associated with beta-pancreatic cells, autoimmune thyroid diseases and celiac disease through research of anti-glutamic acid decarboxylase antibodies (GADA), antiislet cell antibodies (ICA), anti-insulin antibodies (IAA), anti-tyrosine phosphatase (IA-2A), anti-transglutaminase antibodies (anti-tTG), anti-endomysium anti-transglutaminase antibodies (EMA ), immunoglobulin A (IgA), thyroperoxidase antibodies (anti-TPO) and thyroglobulin antibodies (anti-TG), in addition to related hormonal measurements in children and adolescents with type 1 diabetes mellitus. METHODS: Observational, longitudinal study, with retrospective data collection by reviewing the medical records of 92 children and adolescents, diagnosed with DM1 between January 2014 and December 2016, seen at a Pediatric Endocrinology service of a tertiary hospital in Curitiba- PR. RESULTS: At the diagnosis of DM1, the prevalence of anti-GAD antibody positivity was 69.6% (n = 79), ICA 42.9% (n = 70), IAA 32.8% (n = 64), IA2 of 60.6% (n = 33). Positivity for markers of other associated autoimmune diseases was 27.4%, EMA 6.0% (n = 50), anti t-TG IgA 12.5% (n = 8), anti-TPO 13, 1% (n = 84) and 22.9% anti-TG (n = 83). Autoimmune thyroid diseases were the most frequently found comorbidity at diagnosis (22.1%). Among patients with positivity for antithyroid antibodies, 19% developed clinical hypothyroidism. CONCLUSIONS: Patients with DM1 have a high prevalence of autoimmunity. The importance of screening for such diseases to diagnosis and clinical follow-up is reinforced, in order to assist in predicting the development of associated diseases and their complications, as well as providing adequate treatment.

Celiac disease in children (Clinical Case)

11-year-old female child. Sent to the Nutrition Consultation due to suspicion of celiac disease and to start a gluten-free diet, after analytical values with positive IgA anti-gliadin and IgA anti-transglutaminase antibodies and associated symptoms: asthenia, anorexia, abdominal pain, abdominal distension and diarrhea. Subsequently, for further analytical research and to perform an upper digestive endoscopy with biopsy, a gluten diet was reintroduced. The child is followed in pedopsychiatry for attention deficit hyperactivity disorder and challenging personality.

Rapid Immunochromatography on Fresh Intestinal Biopsy Is Highly Accurate in Detecting Intestinal Antitransglutaminase Antibodies.

Intestinal antitransglutaminase antibodies (I-anti-TG2) are a specific marker of celiac disease (CeD). The aim of this study was to evaluate the diagnostic accuracy of a novel application of an immunochromatographic assay referred to as Rapid_AntiTG2 to detect I-anti-TG2 on intestinal biopsy lysate. Consecutive pediatric patients referred to a single center for elective upper endoscopy were enrolled. Biopsies were taken from duodenal bulb and distal duodenum. For each sampling site, 2 biopsies were analyzed for standard histology, 1 biopsy was cultured to perform the reference standard assay for I-anti-TG2 detection (endomysium [EMA] biopsy), and 1 biopsy was mechanically lysed to perform Rapid_AntiTG2. The primary outcome was the diagnostic accuracy of Rapid_AntiTG2 on biopsy lysate compared with that of the gold standard (serology + histopathology) for CeD diagnosis. The secondary outcome was the agreement of Rapid_AntiTG2 with EMA biopsy. One hundred forty-eight patients were included. Of them, 79 were those with CeD (64 classical CeD, 2 seronegative CeD, and 13 potential CeD) and 69 were controls. Rapid_AntiTG2 on biopsy lysate had very high diagnostic accuracy (sensitivity 100%, specificity 97%, LR+ 34.1, LR- 0.01) in separating patients with CeD from controls. Diagnostic accuracy was unchanged in patients with potential and seronegative CeD. Rapid_AntiTG2 on biopsy lysate had almost perfect agreement with the EMA biopsy reference test (99% agreement, Cohen K 0.97). I-anti-TG2 can be detected with an immunochromatographic assay after simple mechanical lysis of fresh intestinal biopsy with very high diagnostic accuracy. The test is quick and easy to perform and can be widely available in any endoscopy unit. Its implementation would allow a better understanding of the prognostic value of I-anti-TG2 and help clinicians in cases of suspected CeD that are difficult to classify.

Behaviour of Anti-transglutaminase Antibodies in Pediatric Population with Type 1 Diabetes: Is It Possible to Save the Biopsy?

Behaviour of Anti-transglutaminase Antibodies in Pediatric Population with Type 1 Diabetes: Is It Possible to Save the Biopsy?

Systematic review: early feeding practices and the risk of coeliac disease. A 2022 update and revision.

The effects of early feeding practices on the risk of coeliac disease (CD) remain debated. To update evidence on these practices on the risk of CD and/or CD-related autoimmunity (CDA), defined as anti-transglutaminase or anti-endomysial antibody positivity METHODS: We searched MEDLINE, EMBASE and the Cochrane Library to May 2022 for randomised controlled trials (RCTs) and observational studies. We included 36 publications (30 studies). In the population at genetic risk of developing CD (HLA DQ2/DQ8-positive), exclusive or any breastfeeding and longer breastfeeding duration did not reduce the risk of developing CD/CDA during childhood. While a meta-analysis of four case-control studies showed a decreased risk for CD when gluten was introduced during breastfeeding, this was not shown in RCTs and cohort studies. Age at gluten introduction was not associated with cumulative CD/CDA risk, although two RCTs suggested that earlier gluten introduction was associated with earlier CDA appearance. Evidence from six observational studies suggests that consumption of a higher amount of gluten at weaning and/or thereafter may increase CD risk. There is insufficient evidence to determine the amount of gluten associated with an increased CD/CDA risk. Regarding whether infant feeding practices modulate the risk conferred by different HLA genotypes results were inconsistent. For the population at genetic risk of CD, breastfeeding and age at gluten introduction have no effect on its cumulative incidence during childhood. There is some evidence for an effect of the amount of gluten consumed at weaning and/or thereafter on CD/CDA risk.

S3365 Autoimmune Enteropathy: A Rare Cause of Small Intestinal Villous Atrophy in Adults

Introduction: Autoimmune enteropathy (AIE) is a rare cause of small intestinal villous atrophy. This condition is more frequently diagnosed in children, with only a handful of case series describing its presentation in adults. We present a case of adult-onset AIE in which diagnosis was made based on its unique endoscopic and histologic findings. Case Description/Methods: A 54 year-old previously healthy woman was hospitalized with profuse watery diarrhea, abdominal pain, and weight loss of six months duration. Stool testing was negative for infection. Inflammatory markers were mildly elevated. Computer tomography imaging showed hyperenhancement of the small bowel consistent with enteritis, without evidence of stricture or abscess. She underwent esophagogastroduodenoscopy which revealed diffuse edema of the duodenal mucosa with villous blunting and cracked-earth appearance (Figure A, B). She had normal appearing mucosa of the distal small bowel and colon on video capsule endoscopy and colonoscopy, respectively. Pathology from duodenal biopsies showed chronic active duodenitis characterized by marked villous blunting, reduced goblet and Paneth cells, neutrophilic and lymphocytic infiltration of deep crypts, and basal layer apoptosis (Figure C). Similar findings were seen in random ileal biopsies, while random colon biopsies were normal. Anti-enterocyte antibodies and anti-transglutaminase antibodies were negative. Patient was treated for AIE with intravenous methylprednisolone and she required supplemental parental nutrition. Within days of initiating steroids, her diarrhea had improved and she was transitioned to oral prednisone. Several days later she was weaned off parenteral nutrition and stable for discharge with plans to introduce a thiopurine at follow-up. Discussion: AIE should be suspected in a patient with chronic diarrhea, signs of severe malabsorption, and characteristic histologic features in absence of other causes of villous atrophy such as Celiac disease. Specific histologic features of AIE include absence of goblet cells and Paneth cells and presence of crypt apoptotic bodies in intestinal biopsies. Development of autoantibodies against enterocytes are associated with this condition, but not required for diagnosis. Steroids are the mainstay of therapy and have variable effect. We aim to raise awareness of AIE, as the rarity of this condition can make its diagnosis elusive.Figure 1.: 1A. EGD shows villous blunting and edema of duodenal mucosa. Figure 1B. EGD shows cracked-earth appearance of duodenal mucosa. Figure 1C. Duodenal biopsy reveals chronic active duodenitis characterized by marked villous blunting, reduced goblet and Paneth cells, neutrophilic and lymphocytic infiltration of deep crypts, and basal layer apoptosis.

A No-Biopsy Approach for the Diagnosis of Celiac Disease in Adults: Can It Be Real?

Background and objectivePediatric guidelines on the diagnosis of celiac disease (CD) have reported that the positivity of anti-endomysium antibodies in the presence of anti-transglutaminase antibodies (TGA) 10 times higher than normal is sufficient for the diagnosis. In this study, we aimed to evaluate whether this diagnostic process for children can also be applied to adult patients.Materials and methodsWe retrospectively examined patients aged >18 years who were diagnosed with CD. The results of serological tests and endoscopic biopsy were evaluated. Patients with more than one month of duration between celiac serology and endoscopy, those diagnosed with CD before admission, those on a gluten-free diet, and those with selective IgA deficiency were excluded from the study.ResultsA total of 269 patients were included in the study. TGA value was significantly higher in patients with villous atrophy (p<0.001) and positively correlated with mucosal damage (r=0.60, p<0.01). Considering the cut-off value of 100 U/mL (>10 ULN) for the TGA antibodies, in line with the criteria regulated by the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) for the diagnosis of CD, the sensitivity was 71.64%, the specificity was 100%, and the positive predictive value (PPV) was 100%. When the cut-off value was taken as 29.42 U/mL, the sensitivity was 100% and the specificity was 99.5%. For a TGA cut-off value of 52.7 U/mL (5.27 ULN), which determines the presence of partial or complete villous atrophy in the evaluation made considering mucosal damage, the sensitivity was 90%, the specificity was 100%, and the PPV was 100%.ConclusionBased on our findings, TGA titers were highly effective in demonstrating CD-related mucosal damage. This study endorses a biopsy-free strategy in adult patients in line with the ESPGHAN criteria. Local validation of test-specific thresholds will ensure that this approach has a significant impact on adult patients.

Recognizing the Emergent and Submerged Iceberg of the Celiac Disease: ITAMA Project-Global Strategy Protocol.

Coeliac disease (CD) is frequently underdiagnosed with a consequent heavy burden in terms of morbidity and health care costs. Diagnosis of CD is based on the evaluation of symptoms and anti-transglutaminase antibodies IgA (TGA-IgA) levels, with values above a tenfold increase being the basis of the biopsy-free diagnostic approach suggested by present guidelines. This study showcased the largest screening project for CD carried out to date in school children (n=20,000) aimed at assessing the diagnostic accuracy of minimally invasive finger prick point-of-care tests (POCT) which, combined with conventional celiac serology and the aid of an artificial intelligence-based system, may eliminate the need for intestinal biopsy. Moreover, this study delves deeper into the “coeliac iceberg” in an attempt to identify people with disorders who may benefit from a gluten-free diet, even in the absence of gastrointestinal symptoms, abnormal serology and histology. This was achieved by looking for TGA-IgA mucosal deposits in duodenal biopsy. This large European multidisciplinary health project paves the way to an improved quality of life for patients by reducing the costs for diagnosis due to delayed findings of CD and to offer business opportunities in terms of diagnostic tools and support.