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Diagnóstico de la enfermedad celíaca

Dr. Schär Institute Diagnóstico Enfermedad celíaca Intolerancia al gluten
Diagnóstico de la enfermedad celíaca
El diagnóstico de la enfermedad celíaca se basa en cuatro pilares. Es importante que el paciente no inicie la dieta sin gluten hasta haber confirmado el diagnóstico.
Para llegar a un diagnóstico fiable de la enfermedad celíaca, hay que seguir cuatro pasos. Se comienza con la anamnesis cuando existen molestias pertinentes y posteriormente, se llevan a cabo exámenes serológicos e histológicos. Por último, una fase de prueba siguiendo una alimentación sin gluten que confirmaría el diagnóstico.

I. Anamnesis

La anamnesis comprende tanto una anamnesis familiar clásica, como una anamnesis alimentaria que está especialmente dirigida a los alimentos con gluten. Además, en este paso se pregunta por el cuadro clínico y se relacionan las tomas con síntomas como diarrea, pérdida de peso y fuerza, distensión abdominal, dolor de barriga, náuseas y, en el caso de los niños problemas de crecimiento.

II. Serología

El estándar de referencia en el examen serológico es la determinación de los anticuerpos antitransglutaminasa lgA (tTg-IgA). Si el resultado es negativo, también se determina la presencia de los anticuerpos antitransglutaminasa IgG (tTg-IgG). Por último, se puede determinar serológicamente la presencia de los anticuerpos antiendomisio IgA (EMA). Rutinariamente también se deberían determinar siempre los lgA totales, ya que en los pacientes celíacos a menudo se observa una falta de lgA (del 3 al 11 %). Si se detecta una falta de lgA, el diagnóstico serológico de los anticuerpos lgA no es válido.

Pruebas no recomendadas para el diagnostico

  • Anticuerpos antigliadina negativa
  • Análisis de saliva y heces
  • Análisis rápidos de sangre

III. Histología

El examen histológico comprende una esofagogastroduodenoscopia inicial con toma de biopsias del duodeno. Para ello, se toman como mínimo tres muestras de la parte baja del duodeno y una muestra del paso hacia el yeyuno. En estas muestras las alteraciones histológicas se clasifican según la clasificación de Marsh. Es típico de la enfermedad celíaca encontrar una cantidad elevada de linfocitos intraepiteliales (IEL), así como una hipertrofia/hiperplasia y alargamiento de las criptas. En los pacientes celíacos las vellosidades del intestino delgado pueden ser más cortas, reducidas o inexistentes, dependiendo del grado de atrofia según la clasificación de Marsh.

La clasificación de Marsh

  • Marsh 0: mucosa del intestino delgado y vellosidades intestinales sanas
  • Marsh I: aumento de los linfocitos intraepiteliales (LIE) >30/100 células epiteliales
  • Marsh II: aumento de los LIE e hiperplasia de las criptas
  • Marsh IIIa-IIIc: aumento de los LIE e hiperplasia de las criptas, mucosa del intestino delgado con vellosidades intestinales atrofiadas (parcialmente o por completo)
Dr. Schär Institute Diagnóstico enfermedad celíaca Intolerancia al gluten Clasificación de Marsh

IV. Fase de prueba siguiendo una alimentación sin gluten

Tras el examen serológico e histológico, debe eliminarse de forma estricta los alimentos con gluten de la dieta. El diagnóstico de enfermedad celíaca puede darse por confirmado si los síntomas mejoran y si al volver a realizar la serología se corrobora que los anticuerpos disminuyen al reaccionar a la alimentación sin gluten. En el caso de los pacientes recién diagnosticados es de vital importancia recibir apoyo nutricional de la mano de un experto para realizar una correcta modificación de la alimentación.

Estudios de control periódicos

Se recomienda que los pacientes celíacos pasen un reconocimiento médico cada año para descartar la aparición de deficiencias y complicaciones ligadas a la enfermedad celíaca. Para ello, se debería realizar una vez al año la prueba tTg-IgA para controlar el seguimiento de la alimentación sin gluten. Los anticuerpos negativos indican un buen cumplimiento de la dieta por parte del paciente. Si la reacción a la alimentación sin gluten es buena, no se recomienda repetir la biopsia del intestino delgado para el seguimiento del paciente, salvo en casos excepcionales.

Se recomienda realizar visitas de seguimiento:
  • Tres meses después del diagnóstico
  • Un año después del diagnóstico
  • Una vez al año durante toda la vida

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Algoritmo diagnóstico para la enfermedad celíaca

Es la herramienta perfecta para tener a mano en la consulta. El algoritmo facilita las claves para asegurar un correcto diagnóstico de Enfermedad Celíaca tanto en la edad pediátrica como en la edad adulta. Descubra los síntomas más frecuentes, pruebas recomendadas, situaciones de sospecha… el algoritmo resolverá sus dudas sobre el diagnóstico.

Implicación de la IL-33/ST2 en el proceso inflamatorio de los celíacos

Investigadores del grupo Genética molecular humana y animal de la Universidad de Jaén (España) han analizado los mecanismos del sistema inmune implicados en la enfermedad celiaca y han descubierto la implicación de una molécula, la interleukina 33, en el proceso inflamatorio que se produce en los celiacos al ingerir gluten. Se trata de la primera vez que se asocia esta proteína propia del sistema de defensa del organismo con la enfermedad celíaca. De esta forma, podría convertirse en un nuevo marcador para el diagnóstico más preciso de la enfermedad, según los expertos.

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Autor:
Torres Mi; et al.;
Año:
2015 Noviembre
Idiomas:
English;

A Retrospective Application of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosis of Coeliac Disease in New Zealand Children.

In 2012 the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) published an updated guideline for the diagnosis of Coeliac disease, proposing a non-biopsy based diagnostic approach for a proportion of symptomatic children where appropriate serology (tTG IgA level at least 10 times upper limit of normal and positive EMA) and 'at risk' genotype (HLA DQ2 or DQ8) was evident. This retrospective study aimed to assess the applicability of this guideline to children in New Zealand. Children less than 16 years of age investigated for coeliac disease with small bowel biopsy in between January 2010 and December 2012 were identified. The results of those with tissue transglutaminase IgA (tTG) levels greater than 50 units (10 times upper limit of normal), positive endomysial antibodies and HLA DQ2/DQ8 were used to calculate sensitivity and specificity. Data from 160 children was available: 70 had biopsy-confirmed Coeliac disease, and 90 had negative biopsies. Limited data relating to HLA DQ2/DQ8 testing precluded application of the guidelines to all patients. However, the isolated use of the anti-tTG antibody cut off of 10 times the upper limit of normal generated a sensitivity of 67% and moderately high specificity of 92%. Specificity increased to 97% when limited EMA and HLA DQ2/DQ8 data was added. data, levels above 50 units  and a specificity of 92%. Specificity increased to 97% when limited EMA and HLA DQ2/DQ8 data was added. A potential 67% reduction in the number of diagnostic biopsies performed would significantly reduce the work load and cost to the health system along with inconvenience and stress to families. However, it is important to avoid incorrect diagnosis of coeliac disease - if this current study is representative of the local population, up to three children out of every hundred investigated for coeliac disease could be falsely diagnosed. The limited amount of data was a major limitation of this study, therefore the value of the 2012 ESPGHAN guideline for the diagnosis of coeliac disease should now be evaluated prospectively.

Resource: International Journal of Coeliac Disease, Dec 2014 (vol 2; no. 4)
 
Autor:
Miller, W; Day, A;
Año:
2015 Enero
Idiomas:
English;

Coeliac disease: The debate on coeliac disease screening - are we there yet?

The majority of patients with coeliac disease are undiagnosed, leading to debate about the utility of screening. The heterogeneous clinical presentation, which includes asymptomatic forms, can partially explain the difficulties faced when identifying coeliac disease. Now, Kurppa and colleagues add another element to the debate by strengthening the arguments for general screening.

Resource: Nature Reviews Gastroenterology & Hepatology Volume: 11, Pages: 457–458 201
 
Autor:
Catassi, C; Fasano, A;
Año:
2014 Julio
Idiomas:
English;

Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology

ABSTRACT

A multidisciplinary panel of 18 physicians and 3 non-physicians from eight countries (Sweden, UK, Argentina, Australia, Italy, Finland, Norway and the USA) reviewed the literature on diagnosis and management of adult coeliac disease (CD).
This paper presents the recommendations of the British Society of Gastroenterology. Areas of controversies were explored through phone meetings and web surveys. Nine working groups examined the following areas of CD diagnosis and management: classification of CD; genetics and immunology; diagnostics; serology and endoscopy; follow-up; gluten-free diet; refractory CD and malignancies; quality of life; novel treatments; patient support; and screening for CD.

Resource: Gut doi:10.1136/gutjnl-2013-306578

Jonas F Ludvigsson, Julio C Bai, Federico Biagi, Timothy R Card, Carolina Ciacci, Paul J Ciclitira, Peter H R Green, Marios Hadjivassiliou, Anne Holdoway, David A van Heel, Katri Kaukinen, Daniel A Leffler, Jonathan N Leonard, Knut E A Lundin, Norma McGough, Mike Davidson, Joseph A Murray, Gillian L Swift, Marjorie M Walker, Fabiana Zingone, David S Sanders, Authors of the BSG Coeliac Disease Guidelines Development Group
 
Año:
2014 Junio
Idiomas:
English;

Serological Assessment for Celiac Disease in IgA Deficient Adults

Abstract

Purpose: Selective immunoglobulin A deficiency is the most common primary immunodeficiency disorder that is strongly overrepresented among patients with celiac disease (CD). IgG antibodies against tissue transglutaminase (tTG) and deamidated gliadin peptides (DGP) serve as serological markers for CD in IgA deficient individuals, although the diagnostic value remains uncertain. The aim of this study was to investigate the prevalence of these markers in a large cohort of IgA deficient adults with confirmed or suspected CD and relate the findings to gluten free diet.

Methods: Sera from 488,156 individuals were screened for CD in seven Swedish clinical immunology laboratories between 1998 and 2012. In total, 356 out of 1,414 identified IgA deficient adults agreed to participate in this study and were resampled. Forty-seven IgA deficient blood donors served as controls. Analyses of IgG antibodies against tTG and DGP as well as HLA typing were performed and a questionnaire was used to investigate adherence to gluten free diet. Available biopsy results were collected.

Results: Out of the 356 IgA deficient resampled adults, 67 (18.8%) were positive for IgG anti-tTG and 79 (22.2%) for IgG anti-DGP, 54 had biopsy confirmed CD. Among the 47 IgA deficient blood donors, 4 (9%) were positive for IgG anti-tTG and 8 (17%) for anti-DGP. Four were diagnosed with biopsy verified CD, however, 2 of the patients were negative for all markers. Sixty-eight of 69 individuals with positive IgG anti-tTG were HLA-DQ2/DQ8 positive whereas 7 (18.9%) of the 37 individuals positive for IgG anti-DGP alone were not.

Conclusions: IgG anti-tTG seems to be a more reliable marker for CD in IgA deficient adults whereas the diagnostic specificity of anti-DGP appears to be lower. High levels of IgG antibodies against tTG and DGP were frequently found in IgA deficient adults despite adhering to gluten free diet.

Resource: PLOS ONE, 9 April 2014, Vol 9, Issue 4 (www.plosone.org)
 
Autor:
Wang, N; Truedsson, L; Elvin, K; et al.;
Año:
2014 Abril
Idiomas:
English;

Coeliac Patients Are Undiagnosed at Routine Upper Endoscopy

Abstract

Background and Aims
Two out of three patients with Coeliac Disease (CD) in Australia are undiagnosed. This prospective clinical audit aimed to determine how many CD patients would be undiagnosed if duodenal biopsy had only been performed if the mucosa looked abnormal or the patient presented with typical CD symptoms.

Methods
All eligible patients presenting for upper gastrointestinal endoscopy (OGD) in a regional center from 2004–2009 underwent prospective analysis of presenting symptoms and duodenal biopsy. Clinical presentations were defined as either Major (diarrhea, weight loss, iron deficiency, CD family history or positive celiac antibodies- Ab) or Minor Clinical Indicators (CI) to duodenal biopsy (atypical symptoms). Newly diagnosed CD patients had follow up celiac antibody testing.

Results
Thirty-five (1.4%) new cases of CD were identified in the 2,559 patients biopsied at upper endoscopy. Almost a quarter (23%) of cases presented with atypical symptoms. There was an inverse relationship between presentation with Major CI’s and increasing age (<16, 16–59 and >60: 100%, 81% and 50% respectively, p = 0.03); 28% of newly diagnosed CD patients were aged over 60 years. Endoscopic appearance was a useful diagnostic tool in only 51% (18/35) of CD patients. Coeliac antibodies were positive in 34/35 CD patients (sensitivity 97%).

Conclusions
Almost one quarter of new cases of CD presented with atypical symptoms and half of the new cases had unremarkable duodenal mucosa. At least 10% of new cases of celiac disease are likely to be undiagnosed at routine upper endoscopy, particularly patients over 60 years who more commonly present atypically. All new CD patients could be identified in this study by performing pre-operative celiac antibody testing on all patients presenting for OGD and proceeding to biopsy only positive antibody patients and those presenting with either Major CI or abnormal duodenal mucosa for an estimated cost of AUS$4,629 and AUS$3,710 respectively.

Resource: PLOS ONE, March 2014, Vol 9, Issue 3 (www.plosone.org)
 
Autor:
Robson, K; Alizart, M; Martin, J; et al.;
Año:
2014 Marzo
Idiomas:
English;

Celiac disease: diagnosis and management.

Abstract

Celiac disease is an autoimmune disorder of the gastrointestinal tract. It is triggered by exposure to dietary gluten in genetically susceptible individuals. Gluten is a storage protein in wheat, rye, and barley, which are staples in many American diets. Celiac disease is characterized by chronic inflammation of the small intestinal mucosa, which leads to atrophy of the small intestinal villi and subsequent malabsorption. The condition may develop at any age. Intestinal manifestations include diarrhea and weight loss. Common extraintestinal manifestations include iron deficiency anemia, decreased bone mineral density, and neuropathy. Most cases of celiac disease are diagnosed in persons with extraintestinal manifestations. The presence of dermatitis herpetiformis is pathognomonic for celiac disease. Diagnosis is supported by a positive tissue transglutaminase serologic test but, in general, should be confirmed by a small bowel biopsy showing the characteristic histology associated with celiac disease. The presence of human leukocyte antigen alleles DQ2, DQ8, or both is essential for the development of celiac disease, and can be a useful genetic test in select instances. Treatment of celiac disease is a gluten-free diet. Dietary education should focus on identifying hidden sources of gluten, planning balanced meals, reading labels, food shopping, dining out, and dining during travel. About 5% of patients with celiac disease are refractory to a gluten-free diet. These patients should be referred to a gastroenterologist for reconsideration of the diagnosis or for aggressive treatment of refractory celiac disease, which may involve corticosteroids and immunomodulators.

Resource: Am Fam Physician. 2014 Jan 15;89(2):99-105.
 
Autor:
Pelkowski, T; Viera, A;
Año:
2014 Enero
Idiomas:
English;
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