Suspicion of celiac disease not confirmed with duodenal biopsies, now what?

MM Díaz Alcázar

doi:10.37352/2021444.7

Suspicion of celiac disease not confirmed with duodenal biopsies, now what?

Revista Andaluza de Patología Digestiva ◽

10.37352/2021444.7 ◽

2021 ◽

Vol 44 (4) ◽

pp. 153-154

Author(s):

MM Díaz Alcázar

Keyword(s):

Celiac Disease ◽

Endoscopia Digestiva ◽

Duodenal Biopsies ◽

Hla Dq2

Resumen Varón de 52 años en estudio por diarrea y anemia ferropénica. En endoscopia digestiva alta se observa mucosa pálida en segunda porción duodenal sin otros hallazgos de interés. Biopsias duodenales de bulbo y segunda porción muestran vellosidades sin atrofia con criptas hiperplásicas y linfocitosis intraepitelial, clasificación Marsh 2. Serología de celiaquía negativa y HLA-DQ2 positivo. Sugiere enfermedad celíaca. Se decide completar el estudio con cápsula endoscópica para confirmar el diagnóstico de sospecha. No se recomienda la videocápsula de forma rutinaria para el diagnóstico de celiaquía, pero puede ser utilizada en pacientes que rechacen endoscopia digestiva alta, con duda diagnóstica con el algoritmo habitual, como en el caso presentado, o en celiaquía refractaria a dieta estricta sin gluten. Los hallazgos más comunes compatibles con celiaquía son la reducción o ausencia de pliegues de Kerckring, fisuras de los pliegues y un patrón en mosaico con nodularidad.

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SERONEGATIVE CELIAC DISEASE IN BRAZILIAN PATIENTS: A SERIES OF CASES

Arquivos de Gastroenterologia ◽

10.1590/s0004-2803.202100000-39 ◽

2021 ◽

Author(s):

Lorete M S KOTZE ◽

Shirley R R UTIYAMA ◽

Luiz Roberto KOTZE ◽

Renato NISIHARA

Keyword(s):

Celiac Disease ◽

Clinical Symptoms ◽

Correct Diagnosis ◽

Wheat Gluten ◽

Serum Levels ◽

Duodenal Mucosa ◽

Clinical Profile ◽

Histological Findings ◽

Duodenal Biopsies ◽

Hla Dq2

ABSTRACT BACKGROUND: Celiac disease (CD) is an autoimmune disease characterized by immune reaction mostly to wheat gluten. The diagnosis is based on clinical, serological and histological findings in patients ingesting gluten. Cases that the clinical profile indicates CD and the autoantibodies are negative bring so a dilemma for the professional, as the risk of missed the diagnosis or a delay at the same. OBJECTIVE: To show the importance of correct diagnosis of cases with seronegative celiac disease (SNCD). METHODS: Ten cases of SNCD Brazilian patients were retrospectively studied (2013 to 2019). Data of clinical complaints, autoantibodies, IgA serum levels, histological findings and HLA-DQ2/DQ-8 were compiled. Dual-X densitometry, delay at diagnosis, previous autoimmune diseases and family history of CD were also checked. RESULTS: All SNCD patients presented clinical symptoms of CD, with confirmed diagnosis by histological findings of the duodenal mucosa and HLA-DQ2 and/or HLA-DQ8 positivity. All patients had normal IgA levels and negative autoantibodies (IgA-anti-transglutaminase and anti-endomysial). Dual-X densitometry detected osteopenia in two women and osteoporosis in two males, all with low levels of vitamin D. Delay diagnostic ranged from 1 to 19 years. Familiar occurrence of CD was reported in 40% of the cases. After one year of gluten-free diet, eight patients refer improve of symptoms, while duodenal biopsies, done in five cases, showed histological improvement. CONCLUSION: Patients who demonstrate the clinical profile of celiac disease with negative serology and normal levels of IgA, especially those who have family members with celiac disease, should be submitted to duodenal biopsies to look for histological findings.

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PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES HLA-DQ2 AND DQ8, INCLUDING HLA-DQ2.2 VARIANT, IN CELIAC AND NON-CELIAC CHILDREN FROM BRAZIL

10.26226/morressier.56e174d0d462b8028d88a3ef ◽

2016 ◽

Author(s):

Nicole Selleski

Keyword(s):

Celiac Disease ◽

Hla Dq2

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Dietary Nanoparticles Interact with Gluten Peptides and Alter the Intestinal Homeostasis Increasing the Risk of Celiac Disease

International Journal of Molecular Sciences ◽

10.3390/ijms22116102 ◽

2021 ◽

Vol 22 (11) ◽

pp. 6102

Author(s):

Clara Mancuso ◽

Francesca Re ◽

Ilaria Rivolta ◽

Luca Elli ◽

Elisa Gnodi ◽

...

Keyword(s):

Celiac Disease ◽

Metallic Nanoparticles ◽

Synergistic Effects ◽

Food Sector ◽

Intestinal Homeostasis ◽

Gluten Peptides ◽

Transmission Electron ◽

Duodenal Biopsies ◽

Junction Proteins

The introduction of metallic nanoparticles (mNPs) into the diet is a matter of concern for human health. In particular, their effect on the gastrointestinal tract may potentially lead to the increased passage of gluten peptides and the activation of the immune response. In consequence, dietary mNPs could play a role in the increasing worldwide celiac disease (CeD) incidence. We evaluated the potential synergistic effects that peptic-tryptic-digested gliadin (PT) and the most-used food mNPs may induce on the intestinal mucosa. PT interaction with mNPs and their consequent aggregation was detected by transmission electron microscopy (TEM) analyses and UV–Vis spectra. In vitro experiments on Caco-2 cells proved the synergistic cytotoxic effect of PT and mNPs, as well as alterations in the monolayer integrity and tight junction proteins. Exposure of duodenal biopsies to gliadin plus mNPs triggered cytokine production, but only in CeD biopsies. These results suggest that mNPs used in the food sector may alter intestinal homeostasis, thus representing an additional environmental risk factor for the development of CeD.

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

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0076 ◽

2020 ◽

Vol 33 (8) ◽

pp. 995-1002

Author(s):

Valeria Calcaterra ◽

Corrado Regalbuto ◽

Matteo Manuelli ◽

Catherine Klersy ◽

Gloria Pelizzo ◽

...

Keyword(s):

Celiac Disease ◽

Weight Gain ◽

Autoimmune Diseases ◽

Medical History ◽

Unknown Origin ◽

Overweight And Obesity ◽

Excessive Weight Gain ◽

Familial Predisposition ◽

Excessive Weight ◽

Hla Dq2

AbstractObjectivesThe coexistence of celiac disease (CD) and obesity/overweight is not unusual. We investigate the prevalence and clinical presentation of CD, detected by screening, among children with excessive weight gain.MethodsWe 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.ResultsCD 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).ConclusionCD 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.

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Letter to the paper “Clinical value of duodenal biopsies – Beyond the diagnosis of celiac disease”

Pathology - Research and Practice ◽

10.1016/j.prp.2012.01.001 ◽

2012 ◽

Vol 208 (3) ◽

pp. 195

Author(s):

Vincenzo Villanacci ◽

Gabrio Bassotti

Keyword(s):

Celiac Disease ◽

Clinical Value ◽

Duodenal Biopsies

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Descriptive Study of the Different Tools Used to Evaluate the Adherence to a Gluten-Free Diet in Celiac Disease Patients

Nutrients ◽

10.3390/nu10111777 ◽

2018 ◽

Vol 10 (11) ◽

pp. 1777 ◽

Cited By ~ 5

Author(s):

Luis Rodrigo ◽

Isabel Pérez-Martinez ◽

Eugenia Lauret-Braña ◽

Adolfo Suárez-González

Keyword(s):

Celiac Disease ◽

Multidisciplinary Approach ◽

Descriptive Study ◽

Duodenal Mucosa ◽

Gluten Free Diet ◽

Gluten Free ◽

Autoimmune Process ◽

Duodenal Biopsies

Celiac disease (CD) is a genetically conditioned autoimmune process that appears in susceptible people. It can affect people of any age, and slightly predominates in females. It has a fairly homogenous global distribution, with an average prevalence of 1–2%, the frequency having increased in recent decades. The only effective treatment is a strict and permanent gluten-free diet (GFD), although the level of compliance is poor, at about 50% of cases. To monitor the effectiveness of the GFD, several procedures involving various approaches are employed: (a) Periodic visits by expert Nutritionists; (b) Clinical follow-up; (c) Serological time controls of specific antibodies; (d) Serial endoscopies with collection of duodenal biopsies; (e) Use of structured questionnaires; and (f) Determination of gluten peptides derived from gluten in faeces and/or urine. All of these procedures are useful when applied, alone or in combination, depending on the cases. Some patients will only need to consult to their doctors, while others will require a multidisciplinary approach to assess their compliance with the GFD. In children, normalization of duodenal mucosa was achieved in 95% of cases within two years, while it is more delayed in adults, whose mucosa take longer time (3–5 years) to heal completely.

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BETA-GALACTOSIDASE AND BETA-GLUCURONIDASE ACTIVITIES IN INTESTINAL MUCOSA OF INFANTS AND CHILDREN

PEDIATRICS ◽

10.1542/peds.47.4.737 ◽

1971 ◽

Vol 47 (4) ◽

pp. 737-744

Author(s):

Irena Antonowicz ◽

Harry Shwachman ◽

Ishida Sotoo

Keyword(s):

Celiac Disease ◽

Intestinal Mucosa ◽

Lysosomal Enzymes ◽

Normal Activity ◽

Acute Stage ◽

Infants And Children ◽

Protein Losing Enteropathy ◽

Per Oral ◽

Beta Galactosidase ◽

Duodenal Biopsies

The activity of two galactosidases (lactase and hetero-β-galactosidase) and β-glucuronidase were studied in per oral duodenal biopsies in 50 infants and children. Ten patients served as controls and 40 had nutritional disorders including celiac disease (acute, and in remission), cystic fibrosis (CF), protein losing enteropathy, and some miscellaneous conditions. The values for the 10 control patients expressed in units/gm protein/minute ± S.D. follows: lactase 38.0 ± 13.4, H-β-gal-ase 1.42 ± 0.35., and β-glucuronidase 1.90 ± 0.45. In the acute stage of celiac disease the lactase values were markedly reduced, the H-β-gal-ase normal or slightly reduced, with normal activity for β-glucuronidase. In clinical remission and while still on a gluten-free diet the activity of lactase remained significantly reduced in seven of nine patients even after 2 to 10 years. The lysosomal enzymes H-β-gal-ase and β-glucuronidase were not strikingly affected in patients with CF although four of six patients showed low values for H-β-galactosidase. β-glucuronidase was not affected in a variety of intestinal disorders including those that severely affect the integrity of the intestinal mucosa. In the conditions studied there was no correlation between the activity of the two galactosidases, nor between the two lysosomal enzymes.

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The Prevalence of Celiac Disease-Specific Auto-Antibodies in Type 1 Diabetes in a Moroccan Population

International Journal of Endocrinology ◽

10.1155/2019/7895207 ◽

2019 ◽

Vol 2019 ◽

pp. 1-9

Author(s):

Ider Oujamaa ◽

Majda Sebbani ◽

Lahcen Elmoumou ◽

Aïcha Bourrahouate ◽

Rabiy El Qadiry ◽

...

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Iga Deficiency ◽

Cross Sectional Study ◽

Biological Data ◽

Cross Sectional ◽

Systematic Screening ◽

Lower Height ◽

Hla Dq2

Objective. We aimed to determine the prevalence of specific auto-antibodies to celiac disease (CD) in Moroccan type 1 diabetic (T1D) patients and compare the clinical and biological characteristics of seropositive and seronegative cases. Patients and Methods. A cross-sectional study was carried out on 276 T1D patients including 109 adults and 167 pediatric cases. The screening for CD was performed by an Elisa IgA anti-tissue transglutaminase antibody (tTGA) testing, combined with IgA quantification by nephelometry. Positive-IgA-tTGA cases were secondly tested for anti-endomysial antibodies (EMA) using an immunofluorescence technique, and the IgA deficiency cases were screened for IgG-tTGA. Patients with low positive tTGA titers underwent HLA-DQ2/DQ8 typing. Sociodemographic and clinical data of the patients were collected using a hetero-administered questionnaire. The comparison of clinical and biological data between seropositive and seronegative diabetics was done using independent T, Mann–Whitney U, chi-squared, and Fisher tests, which were considered significant if p value <0.05. Results. The prevalence of CD-specific auto-antibodies was estimated to be 9.1% (IC = 95%), with 25 positive cases in tTGA and EMA testing. Eight cases displayed low titers of IgA-tTGA, among which 4 were positive for HLA-DQ2, 1 for HLA-DQ8, and 1 for both DQ2 and DQ8. The other 2 cases had a biopsy-proven CD. Compared to seronegative patients, seropositive cases had a higher percentage of associated autoimmune disorders (16% vs. 2.4%, p=0.008), with a significant lower height Z-scores (median: −0.90 (−3.93 to 0.95) vs. −0.51 (−4.54 to 2.18), p=0.029) and a higher HbA1c level (median: 11.30% (7.31 to 16.00) vs. 9.30% (4.40 to17.31), p=0.022). Conclusion. The current study gave evidence of a high prevalence of CD specific auto-antibodies in T1D population. The co-existence of these two conditions was associated with a poor glycemic control, a lower height, and other autoimmune diseases. These findings may suggest the necessity of a systematic screening of CD in T1D patients.

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