IgA Antiendomysial Antibodies Research Articles

Combined Iron Deficiency Anemia and Occult Seronegative Gluten Intolerance

A 66-year old man with new symptomatic iron deficiency anemia was investigated with gastroscopy, which revealed adenomatous large inflammatory erosive polyp, which was removed. Iron reach diet and iron replacement therapy was only partially helpful but serum iron indicators were still reduced. Abnormal iron absorption was proposed. Celiac transaminase tTG- IGA and anti-gliadin and anti-endomysial antibodies were negative. Due to suspicion of seronegative gluten intolerance gluten free diet was initiated. Hemoglobin and serum iron characteristics became normal two months later. We conclude: occult iron deficiency reasons should not be missed including seronegative gluten intolerance.

Serological screening for celiac disease, by endomysial antibodies, in patients with rheumatoid arthritis.

Celiac disease (CD) and rheumathoid arthritis (RA) are both multi-factorial chronicinflammatory auto-immune diseases. In this retrospective study, we determined the frequency of CD in patients with RA using IgA anti-endomysial antibodies (EmA) and tried to explain this association. Indirect immunofluorescence on human umbilical cord was used to detectEmA in 215 patients withseropositive RA collected over a 4-year-period. Two thousand and five hundred healthy blood donors (HBD) served as control group. Among the 215 patients with RA, 12 (9 females) were found positive for EmA while only 7 were positive for EmA in control group, EmA are significantly more frequent in RA patients than in HBD (5.58% vs. 0.28%, p <10-6; 95% CI [8.21-54.01]; odds ratio: 21.05). In RA patients, the frequency of EmA was not statistically different between males and females. The frequency of EmA was significantly higher in female patients than in healthy females (5.32% vs. 0.40%, p <10-3). Patients with RA can be considered as a high-risk group for CD based on the high frequency of EmA positivity observed in our study.

Популяционное исследование распространенности целиакии среди школьников г. Москвы

Objective. Examination of schoolchildren in Moscow using a specially designed questionnaire to identify children at risk of developing celiac disease. Patients and methods. The study enrolled 3070 Moscow schoolchildren aged 7–18 years old. Serological and genetic examinations were performed in 42 children at risk for celiac disease, including determination of IgA and IgE to wheat, IgA and IgG to tissue transglutaminase, and IgA to endomysium. Molecular HLA testing for alleles that predispose to celiac disease was conducted. Endoscopic and morphological diagnostics were performed when indicated. Results. The risk group for celiac disease amounted to 10.2% of all schoolchildren surveyed. According to the results of the questionnaire, children in the risk group significantly more often had abdominal pain, excess gas, bloating, flatulence, dyspeptic complaints (diarrhea, constipation, vomiting), asthma attacks or other forms of allergies, headache, joint or body pain, fatigue and weakness, mood swings, depression, anxiety, or episodes of emotional arousal. Changes in height, weight, delayed physical or sexual development, dental enamel defects, and skin rashes were also noted. Of the 42 children in the risk group, the DQ2 heterodimer was detected in 13 (31%) children, the DQ8 heterodimer – in 2 (4.8%), and a combination of DQ2 and DQ8 heterodimers – in 1 (2.4%). Thus, characteristic HLA haplotypes were identified in 38% of the examined children. Three children had IgA antibodies to tissue transglutaminase (at &gt;10 norm) and IgA anti-endomysium antibody titers. Conclusion. The method of questioning by means of a specially designed questionnaire for school-age children allows to identify individuals at risk of developing celiac disease. According to serological, genetic, endoscopic, and morphological investigations, the incidence of celiac disease among children at risk was 7.1%. The prevalence of celiac disease among school-age children in Moscow corresponds to global trends, amounting to 0.7%. Key words: questionnaire, gluten-free diet, cereals, gluten intolerance, celiac disease, children

S3456 Olmesartan-Induced Enteritis: When Symptoms Do Not Improve With Drug Discontinuation

Introduction: Severe diarrhea is a well-known, but rare, complication of Olmesartan. The enteropathy caused by Olmesartan is histologically similar to Celiac disease, however celiac serologies are negative and it lacks a response to a gluten free diet. In most cases, symptoms resolve with the discontinuation of the medication. We present a case of Olmesartan induced enteropathy that only improved after the initiation of budesonide. Case Description/Methods: A 73-year-old female with a history of hypertension presented with complaints of nausea, vomiting and watery diarrhea. Initial workup with bloodwork, stool studies and imaging were all unremarkable. Recent outpatient colonoscopy was unremarkable. Review of her medications did not reveal any typical culprits of microscopic colitis. Given persistent nausea and vomiting, an upper endoscopy was pursued. Celiac serologic testing, including issue transglutaminase (tTg) IgA and IgG, anti-gliadin IgA and anti-endomysial IgA antibodies were all normal. Qualitative IgA levels were within normal limits. Upper endoscopy was performed with duodenal biopsies revealing moderate active chronic duodenitis with blunting of villous architecture and increased intraepithelial lymphocytic infiltrate, suspicious for celiac sprue. At this point, a closer review of her medications revealed a prescription for Olmesartan. Olmesartan was discontinued, however she continued to have significant diarrhea, up to 2.5L daily, for over a week after discontinuation. Given persistent diarrhea, nausea and vomiting, resulting in significant electrolyte abnormalities, the decision was made to initiate Budesonide. She experienced rapid improvement in symptoms after the initiation of Budesonide and only reported two loose stools per day on discharge. (Figure) Discussion: The initial workup for chronic diarrhea involves a thorough medication review. Physicians who prescribe Olmesartan should be aware of the enteropathy it can cause, as it is likely more common than expected. Other drugs such as azathioprine, colchicine, mycophenolate, methotrexate and neomycin have also been implicated in a similar enteropathy. Timely diagnosis can help decrease healthcare utilization and patient discomfort. In cases such as ours, the enteropathy can be severe enough to result in hospital admission. Immunosuppressant’s such as steroids or azathioprine have shown great efficacy in treatment of these refractory cases.Figure 1.: Histology of duodenal biopsy showing (A) Moderate active chronic duodenitis with blunting of villous architecture and (B) Increased intraepithelial lymphocytic infiltrate.

Who to screen and how to screen for celiac disease

Celiac disease (CeD) is a chronic gluten-induced enteropathy with plethoric manifestations. The typical manifestations of CeD such as chronic diarrhea and malabsorption are widely recognized, however, many patients have atypical manifestations like iron deficiency anemia, idiopathic short stature, hypertransaminesemia or infertility, etc. These patients often present to the primary care physicians and/or non-gastrointestinal specialties. However, due to a lack of awareness among the healthcare professionals about the various atypical manifestations, many patients are not screened for CeD. In this review, we have summarized the available literature about the prevalence of CeD in various gastrointestinal (chronic diarrhea) and non-gastrointestinal conditions (iron deficiency anemia, short stature, cryptogenic hypertransaminesemia, cryptogenic cirrhosis or idiopathic ataxia etc.) where the diagnosis of CeD should be con-sidered. In addition, we also discuss special scenarios where screening for CeD should be considered even in absence of symptoms such as patients with type 1 diabetes, Down’s syndrome, and first-degree relatives of patients with CeD. Further, we discuss the diagnostic performance and limitations of various screening tests for CeD such as IgA anti-tissue transglutaminase antibodies, anti-endomysial antibodies and anti-deamidated gliadin antibodies. Based on the current recommendations, we propose a diagnostic algorithm for patients with suspected CeD.

English

Celiac disease is also called as non-tropical sprue, celiac sprue, adult celiac disease and gluten sensitive enteropathy. Environmental, immunologic and genetic factors play an important role in the aetiology.1 Symptoms of celiac disease can manifest at any age throughout adulthood. Symptoms range from significant malabsorption of multiple nutrients with diarrhoea, steatorrhea, weight loss and consequences of nutrient depletion (like anaemia and metabolic bone disease). Atypical celiac disease can present with symptoms not related to intestinal malabsorption like neurologic symptoms. Large number of patients with celiac disease can even be asymptomatic. The gold standard in diagnosis of celiac disease is an abnormal small intestinal biopsy and the response of the condition to the elimination of gluten from the diet. Classic changes seen on duodenal /jejunal biopsy 1. An increase in number of intraepithelial lymphocytes 2. Absence or a reduced height of villi 3. A cuboidal appearance and nuclei that are no longer oriented basally in surface epithelial cells 4. Increased numbers of lymphocytes and plasma cells in lamina propria Serology tests for celiac disease: IgA antiendomysial antibody and tissue transglutaminase TG antibodies which when positive is supportive in diagnosis. Acute presentation of celiac disease with severe metabolic derangement in adults is rare and called as “celiac crisis.” 2 In crisis the patient may present with profuse diarrhoea, severe dehydration and metabolic abnormalities, hypokalaemia, hypoalbuminemia, neurologic symptoms and azotaemia. We describe one such case in an elderly female patient.

Case Report: Cerebral venous thrombosis revealing celiac disease

Celiac disease (CD) is an autoimmune enteropathy resulting from intolerance of an individual genetically predisposed to gluten. It has a large clinical polymorphism ranging from a classic digestive clinical presentation due to the malabsorption syndrome to extra-intestinal symptoms. Among the hematologic abnormalities, venous thromboembolic disease (VTE) has been reported, and they are most often located in the abdomen or lower limbs, but the cerebral localization was exceptionally described. We report a case of CD revealed by cerebral thrombophlebitis. A 44-year-old patient with no medical history and no drug intake, presented with hemiplegia followed by a status epilepticus in a context of apyrexia, initially hospitalized in intensive care. Magnetic imaging resonance displayed a cerebral venous thrombosis of the sigmoid sinus requiring anticoagulant treatment, then transferred to our department for the etiological investigation. On questioning, the patient reported chronic diarrhea and weight loss with no other associated symptoms. The examination revealed an underweight patient with pale conjunctiva, improvement of her deficit symptoms, and no other abnormalities. Laboratory tests noted biological signs of malabsorption. The thrombophilia assessment revealed a protein C deficiency with a slight increase in anticardiolipin antibodies and anti-Beta 2 glycoprotein 1 antibodies. Immunological tests noted positives anti-transglutaminase and IgA anti-endomysium antibodies. Duodenal biopsy demonstrated villous atrophy. After ruling out the other causes of VTE, the diagnosis of cerebral venous thrombosis secondary to CD was retained. Early diagnosis and treatment of CD improves the quality-of-life for patients and may spare them various long-term or even fatal complications.

Diagnosis of celiac disease in clinical practice: Present and future

IntroductionEuropean guidelines for the diagnosis of celiac disease (CD) have been updated in 2020. The primary objective was to review the compliance with the diagnostic criteria for CD, according to ESPGHAN 2012. Secondarily, to describe the clinical characteristics of the patients and to assess the changes that would be implied by the application of the new 2020 criteria. Patients and methodsRetrospective multicenter study in which 10 centers participated. Patients from 0 to 16 years old with a new diagnosis of CD in 2018–2019 were included. Clinical, serological variables and the performance of intestinal biopsy (IB) were collected. Results163 patients were included (57% female) with a median age of 7.6 years (SD 4.4). The form of presentation was: 47.8% classical, 30.7% no classical and 21.5% asymptomatic, with differences depending on age. Total IgA and anti-transglutaminase IgA antibodies were performed in all centers as the first diagnostic step. IgA anti-endomysial antibodies (EMA) were performed in 80%, and HLA haplotype in 95%. Of the total, 78 cases (47.9%) met criteria for not performing intestinal biopsy (IB). IB was indicated in the remaining 85 patients, but was not performed in 29 cases (17.8%). The performance of IB was lower in the secondary hospitals than in the tertiary ones (p < 0.05).If we applied the ESPGHAN 2020 criteria, we would disregard the HLA study, and 21 more patients would not have required IB (going from 47.9% to 60.7% of the total). ConclusionsDiscrepancies are observed in the application of the ESPGHAN 2012 diagnostic criteria due to the different accessibility to EMA and endoscopic IB in secondary centers. With the ESPGHAN-2020 criteria, around 60% of patients will be able to be diagnosed without IB, provided that the determination of EMA is ensured.

OTHR-14. DIENCEPHALIC SYNDROME SECONDARY TO PITUITARY STALK THICKENING

BACKGROUNDDiencephalic syndrome (DS) is a rare condition associated with neoplastic lesions of the sellar-suprasellar region, whose pathophysiological mechanisms are still unclear. DS occurs in <10% of hypothalamic gliomas and has also been described in suprasellar germinomas, craniopharyngiomas, epidermoid cysts, rarely with non-suprasellar lesions such as brainstem gliomas. DS has not been associated with isolated pituitary stalk thickening. Isolated pituitary stalk thickening (IPST) presents a diagnostic challenge, ranging from benign (craniopharyngioma) to malignant lesions (germinoma, metastasis, histiocytoses of the Langerhans group). The coexistence of diabetes insipidus (DI) with anterior pituitary dysfunction and IPST implies more risk to harbor neoplasia. CASE REPORT: A 6-year old girl presented with DI and inadequate weight gain (despite regular caloric intake) and preservation of linear growth. Neurological examination showed no abnormalities. However, physical examination revealed a malnourished patient (both weight-for-age value and body-mass-index below the third percentile). Blood tests and negative IgA anti-endomysial antibodies excluded malabsorption as a cause of her malnutrition; endocrine work-up excluded thyroid dysfunction, growth hormone deficiency, and adrenal insufficiency. Magnetic resonance imaging (MRI) showed thickening of the pituitary stalk with a transverse diameter of 7 mm. The patient underwent a biopsy through a supraorbital eyebrow approach. Histopathological examination revealed lymphocytic hypophysitis, with tissue markers all negative for germinoma. The girl is currently under follow up with serial MRI every three months.CONCLUSIONDS should be considered as a differential diagnosis in any child with failure to thrive, and imaging studies should be performed even if there are no additional neurological symptoms.

Diagnosis of celiac disease in clinical practice: present and future

European guidelines for the diagnosis of celiac disease (CD) have been updated in 2020. The primary objective was to review the compliance with the diagnostic criteria for CD, according to ESPGHAN 2012. Secondarily, to describe the clinical characteristics of the patients and to assess the changes that would be implied by the application of the new 2020 criteria. Retrospective multicenter study in which 10 centers participated. Patients from 0 to 16 years old with a new diagnosis of CD in 2018-2019 were included. Clinical, serological variables and the performance of intestinal biopsy (IB) were collected. 163 patients were included (57% female) with a median age of 7.6 years (SD 4.4). The form of presentation was: 47.8% classical, 30.7% no classical and 21.5% asymptomatic, with differences depending on age. Total IgA and anti-transglutaminase IgA antibodies were performed in all centers as the first diagnostic step. IgA anti-endomysial antibodies (EMA) were performed in 80%, and HLA haplotype in 95%. Of the total, 78 cases (47.9%) met criteria for not performing intestinal biopsy (IB). IB was indicated in the remaining 85 patients, but was not performed in 29 cases (17.8%). The performance of IB was lower in the secondary hospitals than in the tertiary ones (p < 0.05). If we applied the ESPGHAN 2020 criteria, we would disregard the HLA study, and 21 more patients would not have required IB (going from 47.9% to 60.7% of the total). Discrepancies are observed in the application of the ESPGHAN 2012 diagnostic criteria due to the different accessibility to EMA and endoscopic IB in secondary centers. With the ESPGHAN-2020 criteria, around 60% of patients will be able to be diagnosed without IB, provided that the determination of EMA is ensured.

Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg.

Background The coexistence of celiac disease (CD) and obesity/overweight is not unusual. Objective We investigate the prevalence and clinical presentation of CD, detected by screening, among children with excessive weight gain. Methods We enrolled 200 children referred for overweight/obesity to our outpatient clinic. Medical history during pregnancy and childhood and lifestyle variables were recorded. Patients were screened for CD with total immunoglobulin A (IgA), IgA anti-transglutaminase (tTG-IgA) and IgA anti-endomysial antibodies (EMA-IgA). In subjects with positive autoantibodies, esophagogastroduodenoscopy (EGDS) was performed and genetic testing for HLA DQ2 and/or DQ8 haplotypes was tested. Results CD positive antibodies (tTg-IgA and EMA-IgA) were detected in eight patients (4%); in all subjects CD diagnosis was confirmed by HLA-DQ2 and/or DQ8 compatibility and EGDS. No association between CD and medical history during pregnancy and childhood or lifestyle variables was noted; however, a dietary difference was identified with those testing positive for CD also reporting a lower weekly consumption of fruits and vegetables (p=0.04). Headache was reported more frequently in patients with than without CD (p=0.04). Familiar positivity for autoimmune diseases was revealed in CD patients (p=0.01). Conclusion CD should be considered in children with excessive weight gain. Familial predisposition to other autoimmune diseases may represent a risk factor for development of CD. Even though the relationship between headache and CD is not well defined, the patients with headache of unknown origin should be screened for CD.

Antibodies against neo-epitope of microbial and human transglutaminase complexes as biomarkers of childhood celiac disease.

Tissue transglutaminase (tTG) and microbial transglutaminase (mTG) cross-link gliadins to form complexes that expose immunogenic neo-epitopes to produce tTG and mTG-neo-epitope antibodies. The aim of this study was to test the diagnostic performance of antibodies against non-complexed and complexed forms of transglutaminases, to correlate their activities to the intestinal damage and to explore age group dependency in celiac disease (CD). A total of 296 children with untreated CD and 215 non-celiac disease controls were checked by in-house enzyme-linked immunosorbent assays detecting immunoglobulin (Ig)A, IgG or combined detection of IgA and IgG (check) against tTG, AESKULISA® tTG New Generation (tTG-neo) and mTG-neo (RUO), IgA and IgG antibodies against deamidated gliadin peptide (DGP) and human IgA anti-endomysium antibodies (EMA) using AESKUSLIDES® EMA. Intestinal pathology was graded according the revised Marsh criteria, and age dependencies of the antibody activities were analysed. Using cut-offs estimated from receiver operating characteristic (ROC) curves, the highest area under curve (AUC) of the TG assays was 0·963 for tTG-neo check, followed by tTG check (0·962) when the diagnosis was based on enteric mucosal histology. tTG-neo check was the most effective to reflect the intestinal abnormalities in CD (r=0·795, P<0·0001). High levels of anti-mTG-neo IgG and anti-tTG-neo IgG appeared in the earlier age groups, as compared to anti-tTG IgG (P<0·001). Considering antibody diagnostic performance based on AUC, enteric damage reflection and predictability at an early age, the anti-neo tTG check was the most effective diagnostic biomarker for pediatric CD. The mTG neo check might represent a new marker for CD screening, diagnosis and predictability.

Misuse of serological screening tests for celiac disease in children: A prospective study in Italy

BackgroundDespite a well-established diagnostic algorithm for celiac disease, it remains unclear whether prescriptions for celiac serological tests comply with the current pediatric guidelines. AimTo analyze the appropriateness of test prescription in children investigated for celiac disease in Italy, compared to the current European pediatric guidelines. MethodsAll children who had performed a first evaluation for celiac disease were prospectively enrolled. Prescribed tests and related indications for testing were recorded, and compared to the European pediatric guidelines. ResultsOverall, 202 children were enrolled (females 59%, mean age 7.1 years ±4.1) in two centers. The reasons for celiac disease testing were typical, atypical symptoms or celiac disease-associated conditions in 46.5%, 49%, and 4.5% of cases, respectively. First-line tests were IgA and IgG anti-transglutaminase antibodies in 88.1% and 29.7% of children, IgA and IgG anti-deamidated gliadin peptide antibodies in 43% and 47%, IgA and IgG anti native gliadin in 15.8%, IgA anti-endomysium antibodies in 44.5%, HLA predisposing genes in 10% of patients. Test redundancy was very common, and the current diagnostic guidelines were correctly followed only in 23/202 patients (11.4%). ConclusionsDiagnostic European guidelines for celiac disease screening are often disregarded in Italy. Intervention to implement adherence to these guidelines is needed, with the aim of improving resource utilization, and quality of patient care.

Serological screening for coeliac disease in patients with juvenile idiopathic arthritis

Background and study aimsJuvenile idiopathic arthritis (JIA) is characterized by autoimmune aetiology. A gene locus 4q27 related to rheumatoid arthritis, psoriatic arthritis, and coeliac disease is associated with susceptibility to JIA. There are reports indicating several patients with JIA had been diagnosed with CD. We aimed to assess the frequency of coeliac disease (CD) in patients with juvenile idiopathic arthritis (JIA). Patients and methodsThis prospective study was carried out from October 2015 to August 2016 and included 96 patients with JIA. All patients were evaluated in terms of clinical and laboratory findings of CD. Levels of total IgA and tissue transglutaminase antibody (tTG) IgA were measured in all patients. Those with increased level of tTG IgA were further tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy were planned for a definite diagnosis of CD in patients with positive EMA. ResultsOf the 96 patients in our study, 34 (35.4%) had oligoarticular form of JIA, 29 (30.2%) had polyarticular form, 12 (12.5%) had ERA form, 11 (11.5%) had systemic form, and 10 (10.4%) had psoriatic form. Sixteen of our patients (16.6%) were not using any drugs during the study. Neither EMA IgA antibodies were analysed nor gastro-duodenoscopy was performed because no patients were positive for tTG IgA. There was no difference in terms of tTG levels between the patients using NSAIDs or other drugs. ConclusionWe did not find CD in children with JIA. Long term studies with more JIA patients are needed to provide more precise interpretation.

Prevalence and Clinical Features of Celiac Disease in Healthy School-Aged Children.

The aim of this study was to determine the prevalence of celiac disease (CD) in healthy school-aged children in the northern region of Cyprus and to investigate the existence of potential markers that may accompany CD. This is the first study to measure the prevalence of CD in the northern region of Cyprus. This study included 3792 school-aged children who were between the ages of 6 and 10years between January 2015 and October 2016. CD was screened using total serum IgA, IgA anti-tissue transglutaminase (tTG), and IgA antiendomysial (EMA) antibodies. Subjects with selective IgA deficiency were further tested for IgG-tTG. Small intestinal biopsies were performed on all subjects with tTG antibody positivity. Risk factors and symptoms related to CD were evaluated using questionnaires in both the CD and control groups. Of the 3792 subjects, 39 were antibody positive (IgA-tTG was positive only in 14 subjects, IgA-tTG plus IgA-EMA in 21 subjects, and IgG-tTG in 4 subjects). IgA deficiency was detected in 11 subjects (0.29%). IgG-tTG was positive in 4 subjects with IgA deficiency (36.3%). Intestinal biopsies were performed on 28 of the 39 seropositive subjects. The biopsy findings of 15 children were consistent with CD (IgA-tTG positive in 3, IgA-tTG and IgA-EMA positive in 10, and IgG-tTG positive in 2). Thus, biopsies confirmed CD in 1:256 children (0.39%). Our study, which is the first study of school-aged children from the northern region of Cyprus, revealed that CD is a prevalent disease in this region.

Frequency of Celiac Disease in Children with Peptic Ulcers.

The aim of the present study is to investigate the frequency of celiac disease in children with peptic ulcers and to compare it with that of non-celiac peptic ulcers in terms of clinical and laboratory values. Upper gastrointestinal endoscopy was performed in 1769 patients at the Department of Pediatric Gastroenterology, The Faculty of Medicine, Cukurova University, Turkey, between January 2012 and January 2017. These cases consisted of subjects presenting with various GIS symptoms and indicated for endoscopy (with chronic diarrhea, delayed growth and development, abdominal pains, GIS bleeding, etc.). The levels of immunoglobulin A (IgA) serum anti-tissue transglutaminase antibodies, IgA anti-endomysial antibodies (EMA), and IgA serum were estimated in the patients with peptic ulcers. Celiac disease was diagnosed with serology, endoscopy, and histopathology in 250 (14%) of all cases undergoing endoscopy. Peptic ulcers were diagnosed in 74 patients (4.2%) of all cases undergoing endoscopy. tTGA and EMA (+) levels were determined in 22 (29%) of the 74 patients with peptic ulcers, and then the presence of peptic ulcers was investigated in the upper gastrointestinal system using gastrointestinal endoscopy, followed by histopathological confirmation of celiac disease. HP infection was present in 14 (63%) of the patients with celiac disease and in 23 (44%) of non-celiac peptic ulcers; the difference was not statistically significant (p = 0.12). In the total ulcer group, 10.8% (8/74) of patients with celiac peptic ulcers were negative for HP infection, whereas 21% (8/37) of HP-negative patients with ulcers had celiac disease. There exists a high risk of celiac disease in children with peptic ulcers. We thus recommend celiac disease to be investigated, particularly in HP-negative patients with peptic ulcers but with no history of NSAID use.

SEROLOGICAL SCREENING FOR CELIAC DISEASE IN CHILDREN WITH COLCHICINE-RESISTANT FAMILIAL MEDITERRANEAN FEVER

Familial Mediterranean fever and celiac disease share some common clinical features such as abdominal pain, diarrhea, arthralgia and arthritis. Also, both of the diseases are associated with many inflammatory and autoimmune diseases. Previous studies have shown the association between familial Mediterranean fever (FMF) and different clinical conditions. We aimed to investigate the relationship between celiac disease and colchicine-resistant familial Mediterranean fever (crFMF) disease. This prospective study was conducted at the Department of Pediatric Gastroenterology and Pediatric Rheumatology from October 2015 to August 2016. A total of 24 patients with crFMF were included in the study. We used 60 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in both groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Gastroduodenoscopy and intestinal biopsy were planned for a definite diagnosis of celiac disease in patients with positive EMA. Of the 24 patients in this study, 18 (75.0%) were female. Only 4 (16.6%) of 24 patients were positive for tTG IgA. Patients with positive tTG IgA were then tested for EMA IgA antibodies and none of them had a positive result. Only one (1.6%) subject from the control group was positive for tTG IgA but EMA positivity was not detected. We did not found celiac disease in 24 children with crFMF. Since crFMF disease is rarely seen in general population, further studies with more patients are needed to provide more precise interpretation.

Prevalence of Amebiasis among Histologically Confirmed Colitis Patients

AIM: Evaluate the prevalence of celiac disease in patients diagnosed with inflammatory bowel disease followed at the General Hospital - UFPE. Celiac disease represents an autoimmune enteropathy related to gluten intolerance, causing chronic inflammation, especially of the small intestine. The typical clinical presentation is marked by disabsorptive diarrhea, abdominal distension and malnutrition. Atypical forms, however, have been increasingly documented, demonstrating that the occurrence of the disease, previously considered rare, may reach 1% of the population in some series. Some recent case reports and more recent cross-sectional studies have suggested higher prevalence of celiac disease in patients with inflammatory bowel disease. MATERIALS AND METHODS: As screening test, anti-endomysial IgA antibodies were measured by indirect immunofluorescence in 83 patients with confirmed diagnosis of Crohn’s disease or idiopathic ulcerative colitis, in order to select those who would be referred for duodenal biopsy. RESULTS: No test was positive for anti-endomysial antibodies. CONCLUSION: Despite the small number of patients evaluated, it can be suggested that there is no higher prevalence of celiac disease in patients with inflammatory bowel disease.

Prevalence of celiac disease serological markers in a cohort of Italian rheumatological patients.

To assess the prevalence of celiac disease (CD) serological markers in a cohort of patients referred to an Italian rheumatological outpatient clinic. Current guidelines do not suggest CD screening in patients with rheumatological diseases and these subjects are not considered to be at high risk for CD. A total of 230 sera of rheumatological patients referred to the Division of Internal Medicine at the Department of Medical and Surgical Sciences between January 2005 and December 2013 were screened for CD by testing IgA antitransglutaminase (TTG IgA), IgG deamidated gliadin peptides (DGP IgG) and IgA antiendomysium (EMA) antibodies. Of the 230 patients tested, 67 had a diagnosis of rheumatoid arthritis (RA), 52 Sjögren's syndrome (SjS), 42 systemic sclerosis (SCL), 35 systemic lupus erythematosus (SLE), 15 mixed connective tissue disease, 11 polymyositis and 10 dermatomyositis. TTG IgA antibodies were identified in 7/230 cases (3%), 3 in SjS (3/42 - 5.8%), 2 in SCL (2/42 - 4.8%), 1 in RA (1/67 - 1.5%) and 1 in SLE sera (1/35 - 2.8%). All the seven sera were also positive for DGP IgG and EMA IgA. DGP IgG were the most frequent antibody detected, being found in 16 (7%) sera. This study identified a high prevalence of CD antibodies in adult patients referred to a rheumatology outpatient clinic. These results highlight the importance of CD screening in subjects presenting with rheumatological features.

Coeliac disease in infants: antibodies to deamidated gliadin peptide come first!

BackgroundThe onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD.Case presentationWe report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay. The symptoms started following gluten introduction in the diet. Laboratory tests showed high fecal elastase concentration, normal serum IgA levels with positive IgG and IgA anti-DGPs, whereas anti-tTG were not detected. The duodenal biopsy revealed a complete villous atrophy (Marsh-Oberhuber 3C). The culture of biopsy fragments in the presence of gliadin peptides did not stimulate the production of IgA anti-endomysial antibodies. Genetic testing proved the child was positive for HLA-DQ2 (DQA1*05; DQB1*02) and HLA-DQ8 (DQA1*03, DQB1*0302). Having initiated the gluten-free diet, the symptoms disappeared and the infant experienced rapid catch-up growth with normalization of psychomotor development.ConclusionsThis case report highlights the utility of anti-DGPs for screening infants with suspected CD. The pattern with positivity for IgG and IgA anti-DGPs only is rare in IgA-competent children with biopsy-proven CD. It could be explained in infancy as immaturity of the adaptive immune system.