Duodenosis linfocítica: estudio etiológico y formas de presentación clínica / Lymphocytic duodenosis: etiological study and clinical presentations

INTRODUCCIÓN: La duodenosis linfocítica (DL) es una lesión característica en las fases iniciales de la enfermedad celíaca (EC), pero puede asociarse a otras muchas entidades. El objetivo de este trabajo fue evaluar la prevalencia de las diferentes causas de DL y valorar posibles diferencias en la presentación clínica según la etiología responsable. Métodos Estudio retrospectivo que incluye 194 pacientes diagnosticados de una DL (más de 25 linfocitos intraepiteliales por 100 células epiteliales). Se siguió una estrategia de evaluación etiológica definida que incluyó serología celíaca (anticuerpos antitransglutaminasa), genotipos HLA-DQ2/DQ8, diagnóstico Helicobacter pylori (H. pylori) y sobrecrecimiento bacteriano intestinal (SBID). El diagnóstico de EC se estableció en función de la respuesta clínica e histológica a una DSG en pacientes con serología positiva o un estudio HLA-DQ2 (al menos uno de los alelos) o −DQ8 (ambos alelos) compatibles. Resultados La EC (39%) resultó la causa más frecuente de DL, seguida por SBID (22%), H. pylori (14%), EC y SBID (12%) y otras causas (13%). La mayoría (83%) de los pacientes presentaron un genotipo HLA-DQ2 o −DQ8 compatible. En estos pacientes el diagnóstico más frecuente fue la EC (46%), mientras que en ausencia de HLA-DQ2/DQ8 los diagnósticos más frecuentes fueron el SBID (44%) y H. pylori (22%). En los pacientes enviados por dispepsia, diarrea y anemia, la EC fue el diagnóstico más frecuente, mientras que H. pylori lo fue en los pacientes con dolor abdominal. Conclusiones La EC, seguida del SBID y la infección por H. pylori, constituyen las causas más frecuentes de DL en nuestro medio

INTRODUCTION: Lymphocytic duodenosis (LD) is a characteristic lesion in the initial phases of celiac disease (CD) but can be associated with many other entities. The aim of this study was to evaluate the prevalence of distinct causes of LD and possible differences in clinical presentation according to etiology. METHODS: A retrospective study was performed that included 194 patients diagnosed with LD(more than 25 intraepithelial lymphocytes per 100 epithelial cells). A preestablished strategy to evaluate the cause of the disease was followed that included celiac serology (antitransglutaminase antibodies), HLA-DQ2/DQ8 genotypes, diagnosis of Helicobacter pylori and small intestinal bacterial overgrowth (SIBO). Diagnosis of CD was established on the basis of clinical and histological response to a gluten-free diet in patients with positive serology or compatible findings on HLA-DQ2 (at least one of the alleles) or -DQ8 (both alleles) study. RESULTS: The most frequent cause of LD was CD (39%), followed by SBBO (22%), H.pylori (14%), CD and SIBO (12%), and other causes (13%). Most of the patients (83%) had a compatible HLA-DQ2 or -DQ8 genotype. In these patients, the most frequent diagnosis was CD (46%), while in the absence of HLA-DQ2/DQ8, the most frequent diagnoses were SIBO (44%) and H. pylori (22%). CD was the most frequent diagnosis in patients referred for dyspepsia, diarrhea and anemia, while H. pylori was the most frequent diagnosis in patients with abdominal pain. CONCLUSIONS: The most common causes of LD in our environment are CD, followed by SIBO and H. pylori infection

[Lymphocytic duodenosis: etiological study and clinical presentations]. / Duodenosis linfocítica: estudio etiológico y formas de presentación clínica.

INTRODUCTION: Lymphocytic duodenosis (LD) is a characteristic lesion in the initial phases of celiac disease (CD) but can be associated with many other entities. The aim of this study was to evaluate the prevalence of distinct causes of LD and possible differences in clinical presentation according to etiology. METHODS: A retrospective study was performed that included 194 patients diagnosed with LD (more than 25 intraepithelial lymphocytes per 100 epithelial cells). A preestablished strategy to evaluate the cause of the disease was followed that included celiac serology (antitransglutaminase antibodies), HLA-DQ2/DQ8 genotypes, diagnosis of Helicobacter pylori and small intestinal bacterial overgrowth (SIBO). Diagnosis of CD was established on the basis of clinical and histological response to a gluten-free diet in patients with positive serology or compatible findings on HLA-DQ2 (at least one of the alleles) or -DQ8 (both alleles) study. RESULTS: The most frequent cause of LD was CD (39%), followed by SBBO (22%), H.pylori (14%), CD and SIBO (12%), and other causes (13%). Most of the patients (83%) had a compatible HLA-DQ2 or -DQ8 genotype. In these patients, the most frequent diagnosis was CD (46%), while in the absence of HLA-DQ2/DQ8, the most frequent diagnoses were SIBO (44%) and H. pylori (22%). CD was the most frequent diagnosis in patients referred for dyspepsia, diarrhea and anemia, while H. pylori was the most frequent diagnosis in patients with abdominal pain. CONCLUSIONS: The most common causes of LD in our environment are CD, followed by SIBO and H. pylori infection.

Spectrum of gluten-sensitive enteropathy in patients with dysmotility-like dyspepsia / Espectro de la enteropatía sensible al gluten en pacientes con dispepsia de tipo dismotilidad

Background Dysmotility-like dyspepsia symptoms are frequent in patients with gluten-sensitive enteropathy (GSE). Current data suggest that patients with mild enteropathy may be present with gluten-sensitive symptoms and complications. Aim To investigate the prevalence of GSE, including mild enteropathy, in patients with dysmotility-like dyspepsia symptoms. Methods We retrospectively studied 142 patients who presented dysmotility-like dyspepsia symptoms and normal upper gastrointestinal endoscopy. Endoscopic duodenal biopsies were taken and processed using hematoxylin–eosin staining and CD3 immunophenotyping. In patients with enteropathy (number of intraepithelial lymphocytes greater than 25 per 100 enterocytes) we also performed coeliac serology (anti-tissue transglutaminase IgA) and HLA-DQ2/DQ8 genotyping. A gluten-free diet was offered if one of these markers was positive. The final GSE diagnosis was established based on clinical and histopathological response to the gluten-free diet after 18 months of follow-up. Results Fifty-one patients (35.9%) had enteropathy; 4 (2.8%) Marsh type 3b, 24 (16.9%) Marsh type 3a, 3 (2.1%) Marsh type 2, and 20 (14.1%) Marsh type 1. A positive serology result was extremely low (6.7%) in mild enteropathy (Marsh type 1–3a) in contrast with Marsh type 3b patients (50%). Most patients with enteropathy had positive HLA DQ2 or -DQ8 genotyping (84.1%). Out of the 37 patients who started a gluten-free diet, 34 (91.9%) improved their symptoms, and 28 of 32 (87.5%) had a histopathological or serological response. A final GSE diagnosis was established in 28 of the 142 patients (19.7%).Conclusion Gluten-sensitive enteropathy can be a frequent and unsuspected cause of dysmotility-like dyspepsia (AU)

Antecedentes La dispepsia de tipo dismotilidad es frecuente en pacientes con enteropatía sensible al gluten (ESG). Los datos actuales sugieren que los pacientes con enteropatía leve pueden presentar síntomas y complicaciones gluten dependientes. Objetivo Investigar la prevalencia de ESG, incluida la enteropatía leve, en pacientes con dispepsia tipo dismotilidad. Métodos Estudio retrospectivo de 142 pacientes que presentaban dispepsia de tipo dismotilidad y normalidad en la endoscopia digestiva alta. Se realizaron biopsias duodenales y se procesaron mediante tinción de hematoxilina-eosina e inmunofenotipo CD3. En los pacientes con enteropatía (número de linfocitos intraepiteliales superior a 25 por cada 100 enterocitos) también se realizó una serología celíaca (anti-transglutaminasa tisular IgA) y genotipado HLA-DQ2/DQ8. Si uno de estos marcadores resultaba positivo, se ofrecía al paciente iniciar una dieta sin gluten. El diagnóstico final de ESG se estableció en función de la respuesta clínica e histopatológica a la dieta sin gluten después de 18 meses de seguimiento. Resultados Cincuenta y un pacientes (35,9%) presentaban enteropatía, 4 (2,8%) de Marsh tipo 3b, 24 (16,9%) Marsh tipo 3a, 3 (2,1%) Marsh tipo 2, y 20 (14,1%) Marsh tipo 1. La positividad serológica fue extremadamente baja (6,7%) en la enteropatía leve (Marsh tipo 1-3a), al contrario que en los pacientes con una lesión Marsh tipo 3b (50%). La mayoría de los pacientes con enteropatía presentaban valores positivos para el genotipado HLA DQ2 o -DQ8 (84,1%). De los 37 pacientes que iniciaron una dieta sin gluten, en 34 (91,9%) mejoraron los síntomas, y 28 de 32 (87,5%) presentaron respuesta histopatológica o serológica. Un diagnóstico final de ESG se estableció en 28 de los 142 pacientes (19,7%).Conclusión La enteropatía sensible al gluten puede ser una causa frecuente e insospechada de dispepsia de tipo dismotilidad (AU)

Spectrum of gluten-sensitive enteropathy in patients with dysmotility-like dyspepsia.

BACKGROUND: Dysmotility-like dyspepsia symptoms are frequent in patients with gluten-sensitive enteropathy (GSE). Current data suggest that patients with mild enteropathy may be present with gluten-sensitive symptoms and complications. AIM: To investigate the prevalence of GSE, including mild enteropathy, in patients with dysmotility-like dyspepsia symptoms. METHODS: We retrospectively studied 142 patients who presented dysmotility-like dyspepsia symptoms and normal upper gastrointestinal endoscopy. Endoscopic duodenal biopsies were taken and processed using hematoxylin-eosin staining and CD3 immunophenotyping. In patients with enteropathy (number of intraepithelial lymphocytes greater than 25 per 100 enterocytes) we also performed coeliac serology (anti-tissue transglutaminase IgA) and HLA-DQ2/DQ8 genotyping. A gluten-free diet was offered if one of these markers was positive. The final GSE diagnosis was established based on clinical and histopathological response to the gluten-free diet after 18 months of follow-up. RESULTS: Fifty-one patients (35.9%) had enteropathy; 4 (2.8%) Marsh type 3b, 24 (16.9%) Marsh type 3a, 3 (2.1%) Marsh type 2, and 20 (14.1%) Marsh type 1. A positive serology result was extremely low (6.7%) in mild enteropathy (Marsh type 1-3a) in contrast with Marsh type 3b patients (50%). Most patients with enteropathy had positive HLA DQ2 or -DQ8 genotyping (84.1%). Out of the 37 patients who started a gluten-free diet, 34 (91.9%) improved their symptoms, and 28 of 32 (87.5%) had a histopathological or serological response. A final GSE diagnosis was established in 28 of the 142 patients (19.7%). CONCLUSION: Gluten-sensitive enteropathy can be a frequent and unsuspected cause of dysmotility-like dyspepsia.

Multiple giant pilomatricoma in familial Sotos syndrome.

Cerebral giantism or Sotos syndrome consists of a pre- and postnatal overgrowth whose genetic basis are mutations and deletions of the nuclear receptor-binding SET domain containing protein gene. These patients have an increased risk of developing neoplasms, especially in adulthood. We report a 9-year-old boy, diagnosed with familial Sotos syndrome, who had two pilomatrixoma, symmetrically located on both sides of the neck, measuring 4 cm in diameter. Genetic study of the tumor tissue showed deletion of exon 22 of the NSD1 gene, whereas beta-catenin gene mutations were not detected. To the best of our knowledge, presentation of multiple pilomatricomas with Sotos syndrome has never been reported. Therefore their association probably is incidental. Nevertheless, the unusual size of our patient's pilomatricomas could be due to deletion of the NSD1 gene, which characterizes Sotos syndrome.

Biphasic synovial sarcoma of the abdominal wall.

Synovial sarcoma arising in the abdominal wall is a rare tumor. We report a case of a 38-year-old man who complained of abdominal pain. Physical examination revealed a firm mobile mass, 25 cm in diameter, in the left lower abdominal wall. The tumor was first thought to be a sarcoma arising from the omentum or mesentery. During surgery, a large tumor was found attached to the inner surface of the abdominal wall and compressing the gastrointestinal tract. On microscopic examination the tumor corresponded to a biphasic synovial sarcoma immunoreactive for cytokeratins (AE1/AE3, 7 and 19), epithelial membrane antigen and carcinoembryonic antigen in the epithelial tumor cells, for E-cadherin especially in their glandular structure, vimentin, CD99, and CD56 in the spindle cell component and for bcl-2 protein. The tumor recurred at the same site, and clinical course progressed to death 3 months after the initial diagnosis.