A difficult diagnosis of coeliac disease: Repeat duodenal histology increases diagnostic yield in patients with concomitant causes of villous atrophy

Antonio Carroccio, Gaetano Cristian Morreale, Luigi Maria Montalbano, Aroldo Rizzo, Emanuele Sinagra

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2 Citazioni (Scopus)

Abstract

Villous atrophy in absence of coeliac disease (CD)-specific antibodies represents a diagnostic dilemma. We report a case of a woman with anaemia, weight loss and diarrhoea with an initial diagnosis of seronegative CD and a histological documented villous atrophy who did not improve on gluten-free diet due to the concomitant presence of common variable immunodeficiency (CVID) and Giardia lamblia infection. This case report confirms that CD diagnosis in CVID patients is difficult; the combination of anti-endomysial antibodies (EmA-IgA), anti-tissue transglutaminase antibodies (tTG-IgAb) antibodies and total IgA is obligatory in basic diagnostic of CD but in CVID are negative. Furthermore, the typical histological aspects of the intestinal mucosa in CVID (absence of plasma cells and switch to the IgD immunoglobulins), cannot rule out a concomitant CD diagnosis. HLA typing in this setting has a low positive predictive value but should be considered. Histological response to a gluten-free diet on repeat biopsy and the concomitant treatment of other causes of villous atrophy leads to a definite diagnosis of CD.
Lingua originaleEnglish
pagine (da-a)241-244
Numero di pagine4
RivistaArab Journal of Gastroenterology
Volume18
Stato di pubblicazionePublished - 2018

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Celiac Disease
Common Variable Immunodeficiency
Atrophy
Histology
Gluten-Free Diet
Antibodies
Immunoglobulin D
Giardia lamblia
Histocompatibility Testing
Intestinal Mucosa
Plasma Cells
Immunoglobulin A
Immunoglobulins
Anemia
Weight Loss
Anti-Idiotypic Antibodies
Diarrhea
Biopsy
Infection

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cita questo

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title = "A difficult diagnosis of coeliac disease: Repeat duodenal histology increases diagnostic yield in patients with concomitant causes of villous atrophy",
abstract = "Villous atrophy in absence of coeliac disease (CD)-specific antibodies represents a diagnostic dilemma. We report a case of a woman with anaemia, weight loss and diarrhoea with an initial diagnosis of seronegative CD and a histological documented villous atrophy who did not improve on gluten-free diet due to the concomitant presence of common variable immunodeficiency (CVID) and Giardia lamblia infection. This case report confirms that CD diagnosis in CVID patients is difficult; the combination of anti-endomysial antibodies (EmA-IgA), anti-tissue transglutaminase antibodies (tTG-IgAb) antibodies and total IgA is obligatory in basic diagnostic of CD but in CVID are negative. Furthermore, the typical histological aspects of the intestinal mucosa in CVID (absence of plasma cells and switch to the IgD immunoglobulins), cannot rule out a concomitant CD diagnosis. HLA typing in this setting has a low positive predictive value but should be considered. Histological response to a gluten-free diet on repeat biopsy and the concomitant treatment of other causes of villous atrophy leads to a definite diagnosis of CD.",
author = "Antonio Carroccio and Morreale, {Gaetano Cristian} and Montalbano, {Luigi Maria} and Aroldo Rizzo and Emanuele Sinagra",
year = "2018",
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T1 - A difficult diagnosis of coeliac disease: Repeat duodenal histology increases diagnostic yield in patients with concomitant causes of villous atrophy

AU - Carroccio, Antonio

AU - Morreale, Gaetano Cristian

AU - Montalbano, Luigi Maria

AU - Rizzo, Aroldo

AU - Sinagra, Emanuele

PY - 2018

Y1 - 2018

N2 - Villous atrophy in absence of coeliac disease (CD)-specific antibodies represents a diagnostic dilemma. We report a case of a woman with anaemia, weight loss and diarrhoea with an initial diagnosis of seronegative CD and a histological documented villous atrophy who did not improve on gluten-free diet due to the concomitant presence of common variable immunodeficiency (CVID) and Giardia lamblia infection. This case report confirms that CD diagnosis in CVID patients is difficult; the combination of anti-endomysial antibodies (EmA-IgA), anti-tissue transglutaminase antibodies (tTG-IgAb) antibodies and total IgA is obligatory in basic diagnostic of CD but in CVID are negative. Furthermore, the typical histological aspects of the intestinal mucosa in CVID (absence of plasma cells and switch to the IgD immunoglobulins), cannot rule out a concomitant CD diagnosis. HLA typing in this setting has a low positive predictive value but should be considered. Histological response to a gluten-free diet on repeat biopsy and the concomitant treatment of other causes of villous atrophy leads to a definite diagnosis of CD.

AB - Villous atrophy in absence of coeliac disease (CD)-specific antibodies represents a diagnostic dilemma. We report a case of a woman with anaemia, weight loss and diarrhoea with an initial diagnosis of seronegative CD and a histological documented villous atrophy who did not improve on gluten-free diet due to the concomitant presence of common variable immunodeficiency (CVID) and Giardia lamblia infection. This case report confirms that CD diagnosis in CVID patients is difficult; the combination of anti-endomysial antibodies (EmA-IgA), anti-tissue transglutaminase antibodies (tTG-IgAb) antibodies and total IgA is obligatory in basic diagnostic of CD but in CVID are negative. Furthermore, the typical histological aspects of the intestinal mucosa in CVID (absence of plasma cells and switch to the IgD immunoglobulins), cannot rule out a concomitant CD diagnosis. HLA typing in this setting has a low positive predictive value but should be considered. Histological response to a gluten-free diet on repeat biopsy and the concomitant treatment of other causes of villous atrophy leads to a definite diagnosis of CD.

UR - http://hdl.handle.net/10447/262649

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EP - 244

JO - Arab Journal of Gastroenterology

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SN - 1687-1979

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