SERONEGATIVE CELIAC DISEASE IN BRAZILIAN PATIENTS: A SERIES OF CASES

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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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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Celiac disease and its histopathology

Journal of Pathology of Nepal ◽

10.3126/jpn.v7i1.16948 ◽

2017 ◽

Vol 7 (1) ◽

pp. 1118-1123 ◽

Cited By ~ 1

Author(s):

S Pudasaini

Keyword(s):

Celiac Disease ◽

Wheat Gluten ◽

Duodenal Biopsy ◽

Inflammatory Disorder ◽

Small Intestinal Mucosa ◽

Positive Serology ◽

Chronic Inflammatory Disorder ◽

Immune Mediated ◽

Systemic Manifestations ◽

Hla Dq2

Celiac disease is gluten induced enteropathy and is a chronic inflammatory disorder of the small intestine characterized by malabsorption. It is a common immune mediated disorder which is triggered by consumption of wheat (gluten). It occurs in genetically predisposed individuals (carriers of HLA-DQ2 and DQ8 haplotypes). It is characterized by inflammation of the small-intestinal mucosa and myriad gastrointestinal and systemic manifestations. A duodenal biopsy with positive serology is the gold standard for the diagnosis of Celiac disease. As there are changing presentation for Celiac disease, communication of pathologist and gastroenterologists is essential for appropriate interpretation of duodenal biopsy.

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Evaluation of Efficacy and Adherence to Gluten-Free Diet in Patients with Celiac Disease

10.20944/preprints201810.0324.v1 ◽

2018 ◽

Author(s):

Luis Rodrigo ◽

Isabel Perez-Martinez ◽

Eugenia Lauret-Braña ◽

Adolfo Suarez-Gonzalez

Keyword(s):

Celiac Disease ◽

Multidisciplinary Approach ◽

Duodenal Mucosa ◽

Gluten Free Diet ◽

Gluten Free ◽

Autoimmune Process ◽

Specific Antibodies ◽

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 with it is poor, at about 50% of cases. To monitor the effectiveness of the GFD, several procedures involving various approaches are employed: a) periodic interviews by nutritionists; b) clinical follow-up; c) serological controls of specific antibodies; d) endoscopies with collection of duodenal biopsies; e) structured questionnaires; f) determination of gluten peptides derived from gluten in feces 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 2 years, while it is more delayed in adults, whose mucosa take longer to heal completely.

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Clinical profile of patients with Seronegative celiac disease

10.21203/rs.3.rs-1202616/v1 ◽

2022 ◽

Author(s):

Elham Rahmanipour ◽

fahimeh attarian ◽

Mohammad Ghorbani ◽

Bijan Shahbazkhani ◽

Vahid Ghavami ◽

...

Keyword(s):

Celiac Disease ◽

Poor Prognosis ◽

Clinical Symptoms ◽

Challenge Test ◽

Iga Deficiency ◽

Clinical Profile ◽

Positive Serology ◽

Mucosal Atrophy ◽

Delay In Diagnosis ◽

The Mean

Abstract Background Celiac disease (1) mostly diagnosed base on positive serology and duodenal mucosal atrophy, but some patients have negative serology and their diagnosis have some limitation, it delay in diagnosis likely accompanied a poor prognosis and high risk of developing complications of CD. The aim of this study was determent clinical profile of patients with Seronegative CD (SNCD). Methods in this retrospective study, 1115+8 patients, that evaluated for CD with mucosal atrophy included between 2010 to2020. All patients with IgA deficiency other IgG based serology for diagnosis of celiac was done and if these antibodies were negative consider as possible SNCD. If they had positive DQ2-DQ8, and clinical symptoms or had positive challenge test after12 months of GFD were considered as SNCD. Results of total 1115 patients 27 (2.4%) had seronegative mucosal atrophy of duodenum and diagnosed as a SNCD (96.2% marsh3), the mean age and BMI in SNCD patients were significantly higher than other CD patients (p<0.05). Conclusion The prevalence of SNCD was 2.4% that likely related to over weighting, so clinicians should be considered high possible of seronegative CD in patients with over weighting and mucosal atrophy of duodenum.

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Celiac Disease—The Relative Importance of Wheat Gluten

PEDIATRICS ◽

10.1542/peds.16.4.503 ◽

1955 ◽

Vol 16 (4) ◽

pp. 503-503

Keyword(s):

Celiac Disease ◽

Bile Salts ◽

Clinical Symptoms ◽

Wheat Gluten ◽

Significant Advance ◽

Fat Absorption ◽

Digestive Disorders ◽

The University ◽

Harmful Effects

This report is a continuation of an exploration by the group at the University of Birmingham of the suggestions proposed by the Dutch workers, Dicke, Weijers, and van de Kamer, reported in 1950 that children with celiac disease recover when wheat and rye flours are excluded from the diet. The gluten fraction of wheat and of rye appears to contain the harmful substance. The present study reports on the proportion of children with active celiac disease responding to a diet free from wheat or rye gluten. All but 2 of 30 children with celiac disease responded to diets free from wheat gluten. Improvement was manifested by elimination of clinical symptoms and coincident improvement of the indices of fat absorption. One of the children who did not respond to the diet was found to improve by the administration of bile salts; and a deficiency of bile salts was demonstrated in the duodenal contents. The other child who failed to improve was considered an example of fat intolerance which persisted after an attack of diarrhea. The series of observations concerning the role of gluten in the pathogenesis of celiac is the most significant advance in the understanding of this disorder which has been made for many years. The references provided will enable one to trace the development of this intersting concept. Further elucidation of the mechanism involved in the harmful effects produced by gluten should provide interesting chapters in the long search for understanding and treatment of one of the most troublesome and intriguing digestive disorders affecting infants and children.

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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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Rickets guidance: part I—diagnostic workup

Pediatric Nephrology ◽

10.1007/s00467-021-05328-w ◽

2021 ◽

Author(s):

Dieter Haffner ◽

Maren Leifheit-Nestler ◽

Andrea Grund ◽

Dirk Schnabel

Keyword(s):

Vitamin D ◽

Clinical Symptoms ◽

Fibroblast Growth Factor 23 ◽

Correct Diagnosis ◽

Elevated Serum ◽

Growth Failure ◽

Serum Levels ◽

Calcium Deficiency ◽

X Rays ◽

Vitamin D Metabolism

AbstractRickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. Its symptoms depend on the patients’ age, duration of disease, and underlying disorder. Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling gait, and leg bowing. Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. The diagnosis of rickets is based on the presence of these typical clinical symptoms and radiological findings on X-rays of the wrist or knee, showing metaphyseal fraying and widening of growth plates, in conjunction with elevated serum levels of alkaline phosphatase. Nutritional rickets due to vitamin D deficiency and/or dietary calcium deficiency is the most common cause of rickets. Currently, more than 20 acquired or hereditary causes of rickets are known. The latter are due to mutations in genes involved in vitamin D metabolism or action, renal phosphate reabsorption, or synthesis, or degradation of the phosphaturic hormone fibroblast growth factor 23 (FGF23). There is a substantial overlap in the clinical features between the various entities, requiring a thorough workup using biochemical analyses and, if necessary, genetic tests. Part I of this review focuses on the etiology, pathophysiology and clinical findings of rickets followed by the presentation of a diagnostic approach for correct diagnosis. Part II focuses on the management of rickets, including new therapeutic approaches based on recent clinical practice guidelines.

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Celiac Disease or Gluten Sensitivity? A Mini Update Review

Arab Journal of Nutrition and Exercise (AJNE) ◽

10.18502/ajne.v2i2.1245 ◽

2017 ◽

Vol 2 (2) ◽

pp. 58

Author(s):

Dimitrios Papandreou

Keyword(s):

Immune Response ◽

Celiac Disease ◽

Similar Condition ◽

Clinical Symptoms ◽

Correct Diagnosis ◽

The Other ◽

Diagnosis And Treatment ◽

Gluten Sensitivity ◽

Food Items ◽

Antigenic Properties

Celiac disease is described when some people have with foods that contain gluten. Gluten is a type of protein. It's found in the grains wheat, barley and rye. It has antigenic properties and usually triggers an immune response. On the other hand, gluten sensitivity or intolerance is a similar condition that causes a person to react to gluten found in the above food items described.Even though the clinical symptoms are similar to both conditions, the pathology, diagnosis and treatment is different, thus it is very important to get the correct diagnosis. The purpose of this mini review is to compare the main aspects of these two conditions.

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Celiac Disease and Other Causes of Duodenitis

Archives of Pathology & Laboratory Medicine ◽

10.5858/arpa.2016-0608-ra ◽

2017 ◽

Vol 142 (1) ◽

pp. 35-43 ◽

Cited By ~ 14

Author(s):

Daniel R. Owen ◽

David A. Owen

Keyword(s):

Celiac Disease ◽

Laboratory Testing ◽

Villous Atrophy ◽

Duodenal Mucosa ◽

Endoscopic Examination ◽

Duodenal Biopsy ◽

Patient History ◽

Careful Patient ◽

Upper Gastrointestinal ◽

Duodenal Biopsies

Context.— Patients who receive an upper gastrointestinal endoscopic examination frequently have biopsies taken from the duodenum. Accurate interpretation of duodenal biopsies is essential for patient care. Celiac disease is a common clinical concern, but pathologists need to be aware of other conditions of the duodenum that mimic celiac disease. Objective.— To review the normal histologic features of duodenal mucosa and describe the clinical and histologic findings in celiac disease and its mimics, listing the differentiating features of biopsies with villous atrophy and epithelial lymphocytosis. Data Sources.— The study comprises a literature review of pertinent publications as of November 30, 2016. Conclusions.— Celiac disease is a common cause of abnormal duodenal histology. However, many of the histologic features found in the duodenal biopsy of patients with celiac disease are also present in other conditions that affect the small bowel. Diagnostic precision may be enhanced by obtaining a careful patient history and by ancillary laboratory testing, particularly for the presence of antitissue transglutaminase antibodies.

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Serum Cytokines Profile in Treated Celiac Disease Compared with Non-celiac Gluten Sensitivity and Control: a Marker for Differentiation

Journal of Gastrointestinal and Liver Diseases ◽

10.15403/jgld.2014.1121.273.hey ◽

2018 ◽

Vol 27 (3) ◽

pp. 241-247 ◽

Cited By ~ 5

Author(s):

Fatemeh Heydari ◽

Mohammad Rostami-Nejad ◽

Ali Moheb-Alian ◽

Mostafa Haji Mollahoseini ◽

Kamran Rostami ◽

...

Keyword(s):

Celiac Disease ◽

Inflammatory Cytokines ◽

Clinical Symptoms ◽

Elevated Serum ◽

Serum Levels ◽

Mucosal Damage ◽

Gluten Sensitivity ◽

Ifn Γ ◽

The Mean ◽

And Control

Background & Aims: There is increasing evidence regarding elevated serum levels of inflammatory cytokines in patients with celiac disease (CD), but little is known about their levels in patients with non-celiac gluten sensitivity (NCGS). The aim of this study was to evaluate the serum levels of inflammatory cytokines in Iranian patients with CD and NCGS and to compare them with those of healthy individuals. Methods: A total of 110 treated CD, 15 with NCGS, and 46 healthy subjects were enrolled during 2016. Serum levels of IL-1, IL-6, IL-8, IL-15 and IFN-γ were measured using ELISA, and compared between groups. The correlation of the severity of mucosal damage and clinical symptoms with serum levels of cytokines was also assessed. Results: The mean serum levels of IFN-γ (p = 0.04) and IL-6 (p = 0.007) were significantly different between the patients in the CD and control groups, and IL-8 was significantly higher in the CD group compared with patients in the NCGS group (p = 0.04). Statistically significant correlations were observed between the serum levels of IFN-γ and abortion (p = 0.01), IL-1 and weight loss (p = 0.043) and infertility (p = 0.0001) in CD patients, and between IFN-γ and abortion (p = 0.01) and infertility (p = 0.01) in the NCGS patients. Moreover, no significant relationship was observed between the severity of mucosal damage and the serum level of the studied cytokines. Conclusions: Inflammatory cytokines are implicated in the pathogenesis of CD, and their serum levels might help to identify a diagnostic marker to differentiate CD from NCGS. However, further studies with a larger sample size are recommended.

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