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Acute liver failure has a high mortality and its most frequent cause in Spain is viral infection. In this article, we present a case of fulminant liver failure. The failure is secondary to an idiosyncratic reaction to ibuprofen, an entity included in the DRESS syndrome. This syndrome plays a key role in the differential diagnosis of acute liver failure, since its unfortunate course often requires liver transplantation as the only useful therapeutic weapon. This case illustrates the need for an efficient coordination between hospitals as a key factor for improving the prognosis.

The Helicobacter genus includes Gram negative bacteria which were originally considered to belong to the Campylobacter genus. They have been classified in a separate genus since 1989 because they have different biochemical characteristics, with more than 24 species having been identified and more still being studied. H. pylori is the best known. It has an important etiopathogenic role in peptic ulcer disease and gastric cancer. Enterohepatic Helicobacter s (EHH) other than H. pylori colonize the bowel, biliary tree and liver of animals and human beings with pathogenic potential. The difficulties existing to correctly isolate these microorganisms limit the description of their true prevalence and of the diseases they cause. Many studies have tried to discover the different clinical implications of EHH. Diseases like chronic liver disease, autoimmune hepatitis, hepatocarcinoma, autoimmune hepatobiliary disease, biliary lithiasis, cholangiocarcinoma and gallbladder cancer, Meckel's diverticulum, acute appendicitis and inflammatory bowel disease have been related with different EHH species with different results, although their prevalence is greater than in healthy subjects. However, these data are currently not sufficient to draw definitive conclusions. Finally, the best known role of EHH in bowel disease is production of acute and chronic diarrhea pictures initially referred to as Campylobacter. H. pullorum has been identified in patients with acute gastroenteritis. The correct identification of EHH as producers of infectious gastroenteritis is found in its antibiotic susceptibility. It is generally macrolide-susceptible and quinolone-resistant.

Background: the Irritable Bowel Syndrome Severity Score (IBSSS) is a questionnaire only available in English that classifies IBS patients according to the severity of their symptoms and can be used to guide and monitor the treatment. Aims: to adapt and validate into Spanish the English version of the IBSSS questionnaire. Methods: the Spanish version of the questionnaire was obtained through a process of translation-evaluation of the comprehensibility and back translation. In a later phase we evaluated the applicability (n = 15), reproducibility (n = 31) and sensitivity to change (n = 40) of the Spanish version of the questionnaire. Finally we evaluated an alternative version of the ISBSS using a numerical scoring system instead of the original analog visual scale (n = 40). Results: the Spanish version of the IBSSS showed an excellent reproducibility (r = 0.81 for global score) and an adequate sensitivity to change: a decrease of 45 points or more identified worsening of IBS with a 70.6% sensitivity and 87.5% specificity; an increase of 45 points or more identified improvement of IBS with a 85.7% sensitivity and 87.5% specificity. The severity score was practically the same regardless of the scoring system used (r = 0.96). Conclusions: the Spanish version of the IBSSS is a reproducible tool that is able to identify relevant changes over the course of the disease. The use of a numerical scoring system is a valid alternative to the visual scale that improves the applicability of the questionnaire to situations when the written communication is limited or not possible.Introducción: el "Irritable Bowel Syndrome Severity Score" (IBSSS) es un cuestionario disponible solo en inglés, que permite clasificar a los pacientes con SII en función de su gravedad y sirve como guía para orientar y valorar la respuesta al tratamiento. Objetivos: adaptar y validar para su uso en pacientes españoles la versión inglesa del cuestionario de severidad del SII. Método: la versión española del cuestionario se obtuvo mediante un proceso de traducción-valoración de la comprensibilidad y retrotraducción. En una segunda fase se evaluaron la aplicabilidad (n = 15), reproducibilidad (n = 31) y sensibilidad al cambio (n = 40) de la versión en castellano del cuestionario. Finalmente, se confirmó la validez de una versión alternativa del cuestionario (n = 40) aplicando una escala de respuestas numérica en lugar de la original escala analógica visual. Resultados: el IBSSS mostró una excelente reproducibilidad (r = 0,81 para la puntuación global) y una adecuada sensibilidad al cambio; una disminución de 45 puntos o más mostró una sensibilidad del 70,6% y una especificidad del 87,5% para identificar mejoría, mientras un aumento de 41 puntos o más identificaba empeoramiento con una sensibilidad del 85,7% y una especificidad del 87,5%. La valoración de la gravedad mediante el uso de la escala numérica o visual es virtualmente idéntica (r = 0,96). Conclusiones: la versión española del IBSSS es un instrumento reproducible capaz de identificar cambios clínicamente relevantes. El uso de una escala de respuestas numérica es una alternativa valida a la visual, que mejora la aplicabilidad del cuestionario.

Backgrounds: irritable bowel syndrome (IBS) is a common and complex disorder. Though it is estimated that IBS constitutes an important part of the gastroenterology (GI) practice, the burden of this problem in the GI outpatients clinics in Spain is unclear. Aim: the aim of this study is to obtain a "shot" of the burden and management of this syndrome in the daily GI practice. Methods: 508 general gastroenterologists from all over the country were approached and asked to complete a survey that included questions about their daily practice and the definition, diagnosis and treatment of IBS. Results: 55% of the surveyed physicians estimate that IBS constitute between a quarter and a half of all their consultations; and pointed out that most of these patients were referred from primary care. Overall, the Spanish gastroenterologists show an adequate knowledge of the different diagnostic criteria, though they do not always follow the current guidelines. Up to 55% of the physicians always perform a complementary test to support their diagnosis and 40% order a diagnostic test only in older patients (> 50 years) or in presence of alarm symptoms. Interestingly, 80% of the gastroenterologists start empirical treatment based on the patients' symptoms. Conclusions: though Spanish gastroenterologists seem to have an adequate theoretical knowledge of the disease, they do not systematically follow current guidelines and tend to manage IBS symptoms based on their own criteria.Introducción: el síndrome de intestino irritable (SII) es un trastorno frecuente, aunque la magnitud de este problema y su complejidad en las consultas de digestivo en España no están bien caracterizadas. Objetivo: obtener conocimiento sobre cómo manejan clínicamente el SII los especialistas de aparato digestivo en España. Método: encuesta transversal realizada a 508 especialistas de aparato digestivo de toda España que incluía preguntas generales acerca de su práctica clínica diaria y específicas sobre la definición, el diagnóstico y el tratamiento del SII. Resultados: el 55% de los gastroenterólogos encuestados estima que los pacientes con SII representan entre un 25-50% del volumen de sus consultas; la mayoría referidos desde primaria para diagnóstico. En general los gastroenterólogos españoles refieren conocer los criterios diagnósticos clínicos, aunque la mayoría no basa su diagnóstico en ellos y suele solicitar alguna prueba complementaria para descartar organicidad. Pese a ello, un 80% de especialistas suele comenzar tratamiento enfocado al control de los síntomas sin esperar al resultado de las pruebas. Conclusiones: el SII es uno de los problemas más prevalentes en las consultas de aparato digestivo. Los gastroenterólogos españoles, pese a tener un buen conocimiento teórico de la enfermedad, no siempre se basan en la evidencia científica a la hora de diagnosticar y tratar a estos pacientes.

Background: pregnancy is associated with an increased incidence of heartburn. However, there is no information for other symptoms related to gastro-esophageal reflux (GOR). Aim: to assess the prevalence of atypical symptoms of GOR during pregnancy, and to examine its association with typical GOR symptoms. Methods: we report data for 263 women with a pregnancy of less than 12 weeks. They were interviewed at the end of each trimester of pregnancy and at 1-year post-partum, using the Gastro Esophageal Reflux Questionnaire (GERQ). In the first interview, information about symptoms in the year before pregnancy was also collected with GERQ. Results: women suffered atypical GOR symptoms during pregnancy more frequently than in the year before: non-cardiac chest pain (NCCP) (9.1 vs. 1.9%), dysphagia (12.6 vs. 2.3%), globus (33.1 vs. 4.6%), cough (26.6 vs. 6.8%), belching (66.2 vs. 19.4%) and hiccups (19.0 vs. 8.4%). Atypical GOR symptoms in pregnancy showed an association with suffering the same symptom before pregnancy and NCCP, globus, belching and hiccups with suffering typical GOR symptoms in the first trimester. Conclusions: atypical GOR symptoms are highly prevalent in pregnancy, and are associated with atypical symptoms before pregnancy and with typical symptoms of GOR in the first trimester.

Introduction: There exist a great variability in the manometric findings between patients with anal incontinence (AI) and healthy subjects. The correlation between the pressures of the anal canal and the AI is not exact by the wide rank of normal values. Objectives: Prospective study to evaluate differences in the pressures of the anal canal and in rectal sensitivity in patients with AI, chronic constipation (CC) and healthy subjects. Material and methods: Ninety four patients with AI, 36 patients with CC and 15 healthy subjects were included. The following data were obtained: age, sex, resting pressure, anal canal length (ACL), squeeze maximum pressure (SMP), squeeze pressure duration (SPD), first sensation, urge and maximum tolerated volume (MTV). Statistical study: test of Kruskal-Wallis, test of Mann-Whitney, and multinomial logistic regression test. Results: There were significant differences in the resting pressure (p < 0.001), the ACL (p < 0.001) and the SMP (p < 0.01) in the group of AI with respect to the other two groups. The volume for the first sensation was significantly lower in the healthy subjects than that in the other two groups (p < 0.05). The urge volume and the MVT were smaller in the group with AI with respect to the other groups (p < 0.001). In multivariate analysis the age, the resting pressure and the volume for the first sensation and urge increase the relative risk for AI. Conclusions: The greater age, the decrease in anal canal resting pressure and the alteration of rectal sensation increase the risk for AI.Introducción: Existe gran variabilidad en los hallazgos manométricos entre pacientes con incontinencia anal (IA) y sujetos sanos. La correlación entre las presiones del canal anal y la IA no es exacta por el amplio rango de valores normales. Objetivos: Estudio prospectivo para evaluar diferencias en las presiones del canal anal y en la sensibilidad rectal en pacientes con IA, estreñimiento crónico (EC) y sujetos sanos. Material y métodos: Noventa y cuatro pacientes con IA, 36 pacientes con EC y 15 sujetos sanos. Se obtuvieron: edad, sexo, presión de reposo, longitud del canal anal (LCA), presión de máxima contracción voluntaria (PMCV), duración de la contracción voluntaria, primera sensación, sensación de urgencia y máximo volumen tolerado (MVT). Estudio estadístico: test de Kruskal-Wallis, test de Mann-Whitney, regresión logística multinomial. Resultados: Se encontraron diferencias significativas en la edad (p < 0,001), la presión de reposo (p < 0,001), la LCA (p < 0,001) y la PMCV (p < 0,01) en el grupo de IA con respecto a los otros dos grupos. El volumen para la primera sensación fue significativamente más bajo en los sujetos sanos que en los otros dos grupos (p < 0,05). El volumen de urgencia y el MVT fueron menores en el grupo con IA con respecto a los otros dos grupos (p < 0,001). En el análisis multivariante la edad, la presión de reposo y el volumen de la primera sensación y de la urgencia aumentan el riesgo relativo de IA. Conclusiones: La mayor edad, la disminución presión basal del canal anal y la alteración del umbral sensorial rectal aumentan el riesgo de IA.

Crohn's disease (CD) is a genetically complex disease in which both genetic susceptibility and environmental factors play key roles in the development of the disorder. NOD2/CARD15 mutations are associated with CD. NOD2 encodes for a protein that is an intracellular receptor for a bacterial product (muramyl dipeptide), though the exact functional consequences of these mutations remain the subject of debate. NOD2/CARD15 mutations are associated with ileal CD, with stricturing behavior, and possibly with a more complicated course of CD. NOD2/CARD15 mutations associated with CD have demonstrated heterogeneity across ethnicities and populations throughout the world, with regional variations across Europe and Spain. However, "NOD2/CARD15 testing" is not yet ready for use in the clinical setting. One of the reasons is that we know that these genetic variants increase the risk of disease only marginally, and many healthy individuals carry the risk alleles, At present it is not recommended to screen first-degree relatives, because we do not have the ability to prevent the disease at the present time.La enfermedad de Crohn (EC) es una enfermedad compleja desde el punto de vista de la genética puesto que para el desarrollo de la enfermedad se tiene que producir una interacción entre factores genéticos y ambientales. Las mutaciones del gen NOD2/CARD15 se han asociado con la susceptibilidad a padecer la EC. El gen NOD2/CARD15 codifica una proteína que actúa como un receptor intracelular de la proteína dipeptidomuramil que se encuentran en la pared de cubierta de algunas bacterias. Actualmente se desconoce cuál es el papel exacto de estas mutaciones en el funcionamiento de la proteína NOD2/CARD15. Estas mutaciones se han asociado con la localización en intestino delgado de la enfermedad, el comportamiento fibroestenosante y con un curso más grave de la enfermedad. Las tres mutaciones asociadas con la EC presentan una distribución desigual entre las diferentes razas y áreas geográficas del mundo, con variaciones a lo largo de Europa y España. La determinación de las mutaciones del NOD2/CARD15 no se puede utilizar todavía en la práctica clínica. La principal razón es que estas variantes genéticas sólo incrementan el riesgo de una forma marginal y los podemos identificar en muchos sujetos sanos. Actualmente no se recomienda realizar estudios de despistaje en familiares de primer grado que padecen la EC porque no disponemos de ninguna medida preventiva para evitar la enfermedad.

Background and aims: more than half of patients with genotype 1 chronic hepatitis C (CHC) do not achieve a sustained viral response (SVR) to current antiviral therapy due to primary non-response, relapse or intolerance. Factors related to each of these unfavorable outcomes are different and the last two may be partially prevented. Our aim was to identify basal criteria to predict the risk of primary failure. Patients and methods: we included 251 consecutive patients (152 males) from a single centre, infected with HCV genotype 1 and not previously treated. SVR was achieved in 141 patients and primary failure in 110. Results: high vs. low viral load (> 400,000 IU/mL, OR = 6.17; 95% CI: 2.50-15.23), high serum GGT (> 60 IU/mL, OR = 4.25; 95% CI: 2.49-7.24), low serum cholesterol (< 178 mg/dL, OR = 2.93; 95% CI: 1.75-4.92) and older age (> 47 yrs., OR = 1.79; 95% CI: 1.08-2.96) were associated to the risk of primary failure in the lineal logistic regression analysis. From the 58 patients carrying all the first three negative criteria, 46 (79.3%) were primary non-responders. Conclusions: the negative basal profile identified in this study is based on easily available data and provides information about the risk of primary therapeutic failure, and may help to decide whether antiviral therapy should be offered to a single patient.

Background: few studies have reported the onset and disappearance rates of gastroesophageal reflux symptoms (GERS) in the population. Aim: to assess the occurrence and disappearance rates of GERS in Spain, and their impact on health-related quality of life (HRQL). Participants and methods: participants were selected at random from the general population of Madrid in age and sex strata. They were interviewed at home twice, 6 months apart. Heartburn, acid regurgitation and consultation were assessed with the gastroesophageal reflux questionnaire, and HRQL with the SF-36. Results: 709 individuals were included, and 451 (63.6%) were re-interviewed 6 months later. Among the 325 individuals without GERS, 9 developed weekly symptoms (2.2% [95% CI: 0.8, 3.4%]); 2 (22%) consulted because of GERS. Among the 34 subjects reporting weekly GERS initially, 26 did not report them at 6-months. Onset of GERS was associated with worsening scores in the physical summary of SF-36 (delta = -6.6 [95% CI: -11.8, -1.42]), while disappearance with an improved score (delta = -3.0 [95% CI: 0.0, 5.9]). Conclusion: despite the lower prevalence of GERS in Spain, the occurrence rate is 2.2% in 6 months; however symptoms disappeared in more than half of subjects six months later. Developing GERS was associated with reduced HRQL, and their disappearance with improvement.

Background: hyperferritinemia is often found in patients with chronic hepatitis C (CHC) and is predictive of poorer response to antiviral therapy. Objective: to investigate changes in ferritinemia during and after antiviral therapy. Patients and methods: serum ferritin levels were measured in 262 CHC patients (163 males, mean age 48.5 years ± 10.1) before and during antiviral therapy, and six months post-treatment in all 154 patients whit undetectable serum HCV-RNA after therapy completion. Results: baseline serum ferritin was higher in patients with primary therapeutic failure than in those reaching sustained viral response (330 ± 291 ng/mL vs. 211 ± 192 ng/mL, p = 0.002). Serum ferritin transiently increased during therapy from baseline (257 ± 242 ng/mL vs. 875 ± 630 ng/mL, p < 0.001). Six months after finishing therapy, serum ferritin decreased under baseline values both in sustained responders (117 ± 102 ng/mL vs. 211± 192 ng/mL, p < 0.001) and, to a lesser extent, in relapsers (217 ± 174 ng/mL vs. 257 ± 221 ng/mL, p = 0.047). Conclusions: baseline serum ferritin may predict response to antiviral treatment in chronic hepatitis C. Combined antiviral therapy induces a marked increase in serum ferritin that falls below baseline values after sustained viral response, suggesting that the cause of hyperferritinemia in many patients is HCV infection itself rather than iron overload.Antecedentes: la hiperferritinemia es frecuente en los enfermos con hepatitis crónica C (HCC) y reduce las probabilidades de respuesta al tratamiento antiviral. Objetivo: investigar las variaciones de la ferritina sérica durante y después del tratamiento y su relación con la respuesta al mismo. Pacientes y métodos: la ferritina sérica se ha medido en 262 enfermos con HCC (163 hombres, edad media 48,5 años ± 10,1) antes y durante el tratamiento antiviral, y a los 6 meses de finalizado en los 154 enfermos con viremia indetectable al final del tratamiento. Resultados: la ferritina sérica basal era más alta en enfermos con fracaso terapéutico primario que en los que consiguieron respuesta viral sostenida (RVS) (330 ± 291 ng/ml vs. 211 ± 192 ng/ml, p = 0,002). La ferritina sérica aumentó transitoriamente durante el tratamiento (257 ± 242 ng/ml vs. 875 ± 630 ng/ml, p < 0,001). La ferritina sérica descendió a valores inferiores a los basales seis meses después de finalizado el tratamiento en los pacientes con RVS (117 ± 102 ng/ml vs. 211± 192 ng/ml, p < 0,001) y, en menor grado, en los que sufrieron recidiva viral (217 ± 174 ng/ml vs. 257 ± 221 ng/m, p = 0,047). Conclusiones: una ferritina sérica basal elevada se asocia con mayor riesgo de fracaso terapéutico en la HCC. El tratamiento antiviral induce un marcado incremento de la ferritina sérica que vuelve a valores por debajo de los basales en los enfermos que obtienen R vs. Esto sugiere que la causa de hiperferritinemia en la mayoría de los enfermos es la propia infección por VHC y no la sobrecarga de hierro.

Introducción: el adalimumab ha demostrado, en ensayos clínicos controlados con placebo y en estudios no controlados, ser efectivo en la EC luminal y fistulosa perianal. Objetivo: evaluar la eficacia y seguridad del adalimumab como tratamiento de inducción y mantenimiento en la EC. Metodología: se incluyeron 22 pacientes con EC tratados con adalimumab (16 por enfermedad luminal y 6 por enfermedad fistulosa perianal activa). Veintiún pacientes habían recibido previamente IFX. Se realizó tratamiento de inducción con 160 mg s.c. en la semana 0 y 80 mg s.c. a las 2 semanas. Los respondedores recibieron 40 mg s.c. cada 14 días como tratamiento de mantenimiento. Se valoró la respuesta a las 4 semanas de la dosis inicial, y se clasificó la respuesta como remisión, respuesta parcial o ausencia de respuesta. Resultados: tras la inducción, el 25% de los pacientes con enfermedad luminal tuvieron remisión completa y el 56,3% respuesta parcial. La respuesta clínica se mantuvo al año en el 71,6% de los pacientes, a los 18 meses en el 53,7% y a los 48 meses en el 35,8%. No se objetivaron diferencias en la respuesta entre pacientes que presentaron reacciones de hipersensibilidad o pérdida de respuesta a IFX. Todos los pacientes con enfermedad fistulosa perianal (n = 6) habían recibido previamente tratamiento con IFX. Tras la inducción un 16,7% entran en remisión y un 66,7% presentan respuesta parcial. Todos los pacientes mantienen remisión o respuesta en el tiempo con una mediana de seguimiento de 15 meses. Conclusiones: el adalimumab es un tratamiento eficaz y seguro en la inducción y mantenimiento de la respuesta en la EC luminal y fistulosa perianal. Estos resultados confirman que los hallazgos obtenidos en los ensayos clínicos controlados son reproducibles en la práctica clínica diaria.Background: adalimumab has been shown in placebo-controlled clinical trials and uncontrolled studies to be effective in luminal and perianal fistulizing CD. Objective: to evaluate the efficacy and safety of adalimumab for induction and maintenance therapy in CD. Methods: twenty-two patients with CD treated with adalimumab (16 for luminal disease and 6 for active perianal fistulizing disease) were included. Twenty-one patients had previously received IFX. All patients received induction therapy with 160 mg s.c. at week 0, and 80 mg s.c. at week 2. Responders received maintenance therapy with 40 mg s.c. every 14 days. Response was assessed at 4 weeks after the initial dose, and classified as remission, partial response, or non-response. Results: after induction, 25% of patients with luminal disease had a complete remission, and 56.3% had a partial response. Clinical response was maintained in 71.6% of patients at 1 year, in 53.7% at 18 months, and in 35.8% at 48 months. No differences in response were observed between patients with hypersensitivity reactions or loss of response to IFX. All patients with perianal fistulizing disease (n = 6) had been previously treated with IFX. After induction 16.7% entered remission, and 66.7% had a partial response. All patients maintained remission or response over time, with a median follow-up of 15 months. Conclusions: adalimumab is an effective and safe treatment for the induction and maintenance of response in luminal and perianal fistulizing CD. These results confirm that the findings obtained in controlled clinical trials are reproducible in clinical practice.

Antecedentes y objetivos: casi todos los datos sobre la eficacia del tratamiento antiviral combinado en la infección por el virus de la hepatitis C (VHC) genotipo 4, que es poco frecuente en España, se han obtenido en países del Oriente Próximo. Aportamos nuestra experiencia en pacientes tratados en España con criterios homogéneos. Pacientes y métodos: en el periodo 2001-2007 hemos tratado a 30 enfermos con hepatitis crónica por VHC genotipo 4 (20 varones) con interferón pegilado α-2b (26 casos) o α-2a (4 casos) y ribavirina en dosis ajustada al peso. En todos los casos se conoce el resultado del tratamiento y se dispone de bioquímica y datos virológicos basales, y en 24 de biopsia hepática. Hemos comparado estos resultados con los obtenidos en 355 pacientes infectados por VHC genotipo 1. Resultados: diez pacientes (33,3%) obtuvieron respuesta viral sostenida (RVS: ARN del VHC negativo en sangre a los 6 meses de finalizado el tratamiento), 12 no respondieron (fracaso viral primario), 4 recidivaron y 4 abandonaron por intolerancia. Estos resultados son muy similares a los obtenidos en el grupo de genotipo 1 (RVS: 35,1%). Conclusión: el genotipo 4 del VHC debe considerarse como tan "difícil de tratar" como el genotipo 1. La mayor eficacia del tratamiento en otras zonas geográficas (Oriente Próximo) pueden deberse a la diferente distribución de los subtipos virales existentes.Introduction: nearly all the data on the efficacy of combined antiviral therapy on chronic hepatitis C genotype 4 have been obtained in countries of Middle East. Genotype 4 is quite unusual in Spain. We report our experience in a group of Spanish patients treated with homogeneous criteria. Patients and methods: between 2001 and 2007 we have treated 30 patients with chronic hepatitis C genotype 4 (20 males) with pegylated Interferon a-2b (26 cases) or a-2a (4 cases) combined with ribavirin at a weight-adjusted dose. Results of therapy are known in all patients and liver biopsy is available in 24 cases. Results: ten patients (33.3%) obtained sustained viral response (SVR: HCV-RNA undetectable in blood 6 months after the end of therapy), 12 were primary non-responders, 4 relapsed after reaching undetectable HCV-RNA at the end of therapy and 4 interrupted the treatment due to severe adverse events. These results are very close to those obtained in 355 patients infected with HCV genotype 1. Conclusion: HCV genotype 4 should be considered as "difficult to treat". The better results of therapy in other geographical areas (Middle East) may be due to a different distribution of the subtypes of HCV genotype 4.

Objetivo: conocer la prevalencia de la infección por Helicobacter pylori en población sana en la Comunidad de Madrid. Material y métodos: estudio transversal descriptivo en el que se realiza el diagnóstico de la infección por Helicobacter pylori mediante la prueba del test del aliento con 13C-urea. Resultados: se estudian un total de 618 sujetos. De estos, 481 son considerados evaluables con una prevalencia de infección por Helicobacter pylori del 60,3%. En esta cohorte el 36,4% eran varones y el 63,6% mujeres con una prevalencia del 60,6 y 60,1% respectivamente sin diferencias significativas. La mediana de edad de los pacientes evaluados fue de 37,5 años (rango 4-82) estableciéndose que existe una relación lineal con significación estadística entre la infección por Helicobacter pylori y la edad (χ² lineal = 33,31; p < 0,001): a mayor edad mayor probabilidad de infección. La prevalencia aumenta con la edad siendo máxima entre los 60 y 69 años (83,3% infectados). En 169 sujetos (35,1%) se conoce el nivel de estudios sin que exista relación entre este y la infección por Helicobacter pylori. Conclusión: el estudio muestra que la prevalencia de la infección por Helicobacter pylori en población sana en Madrid es elevada (60,3%), y aumenta progresivamente a lo largo de la vida para alcanzar un pico máximo en la 6ª década. No se encuentran diferencias en la muestra en función del sexo ni del nivel de estudios.Objective: to determine the prevalence of Helicobacter pylori infection in the healthy population of Madrid Autonomous Community (AC). Material and methods: a descriptive, cross-sectional study where Helicobacter pylori infection is diagnosed by means of the 13C-urea breath test. Results: a total of 618 subjects were studied. Among these, 481 were considered evaluable with a prevalence of Helicobacter pylori infection of 60.3%. In this cohort 36.4% were men and 63.6% were women, with a prevalence of 60.6 and 60.1%, respectively, and no relevant differences between both subgroups. The median age of patients was 37.5 years (range 4-82), and a statistically significant linear relationship between Helicobacter pylori infection and age (linear χ² =33.31; p < 0.001) was established -chances of infection increase with age. Prevalence increases with age and peaks at 60 to 69 years (83.3% infected). For 169 subjects (35.1%) education level was unknown, and no relationship between this level and Helicobacter pylori infection was found. Conclusions: the study shows that the prevalence of Helicobacter pylori infection in the healthy population of Madrid AC is high (60.3%), progressively increases with age, and peaks in people in their sixties. The sample showed no differences regarding sex or education level.

Objetivo: comprobar si las mutaciones del gen HFE, que pueden inducir sobrecarga hepática de hierro, guardan relación con el riesgo de desarrollar carcinoma hepatocelular (CHC) en sujetos predispuestos a sufrir este tumor. Material y métodos: se han incluido 196 pacientes (161 varones) diagnosticados de CHC. Ninguno estaba diagnosticado de hemocromatosis. El grupo control estaba constituido por 181 sujetos sanos. Todos los sujetos eran españoles de raza blanca.Las mutaciones C282Y y H63D del gen HFE se identificaron mediante reacción en cadena de polimerasa (PCR) sobre ADN genómico leucocitario utilizando enzimas de restricción específicas. Resultados (casos/controles): 1. Distribución genotípica: a) mutación C282Y: 1/0 homocigotos, 12/23 heterocigotos, 183/158 normales (p = 0,07, n.s.); y b) mutación H63D: 9/5 homocigotos, 85/52 heterocigotos, 102/124 normales (odds ratio 2,00, IC95% 1,29-3,12, p = 0,002). Cuatro casos y seis controles eran heterocigotos compuestos. 2. Frecuencias alélicas: a) mutación C282Y: normales 378/339, mutados 14/23 (p = 0,11, n.s.); b) mutación H63D: normales 289/300; mutados 103/62 (odds ratio 1,72, IC95% 1,19-2,50, p = 0,004). No se observaron diferencias en relación con el sexo, la edad o la etiología (VHC, VHB, etílica o mixta) de la hepatopatía previa. Conclusiones: la mutación C282Y no guarda relación con el riesgo de desarrollar CHC en sujetos sin hemocromatosis conocida. La posesión de la mutación H63D se asocia con un riesgo aumentado de desarrollar CHC independientemente de la etiología de la hepatopatía crónica subyacente.Aim: to disclose whether mutations in the HFE gene inducing liver iron overload are related to the risk of hepatocellular carcinoma (HCC) in otherwise predisposed patients. Patients and methods: one hundred and ninety-six patients (161 males) diagnosed with HCC and 181 healthy controls were included in the study. All subjects were white Spaniards. C282Y and H63D mutations in the HFE gene were identified in leucocyte genomic DNA using a polymerase chain reaction (PCR) and specific restriction enzymes. Results (cases/controls): 1. Genotype distribution: a) C282Y mutation: homozygotes 1/0, heterozygotes 12/23, wild type 183/158 (p = 0.07, non significant); b) H63D mutation: homozygotes 9/5, heterozygotes 85/52, wild type 102/124 (0dds ratio 2.00, 95% C.I. 1.29-3.12, p = 0.002. Four cases and 6 controls were carriers of heterozygous mixed genotypes. 2. Allele frequencies: a) C282Y mutation: wild type allele 378/339, mutated allele 14/23 (p = 0.11, non significant); b) H63D mutation: wild type allele 289/300, mutated allele 103/62 (0dds ratio 1.72, 95% C.I. 1.19-2.50, p = 0.004). Age at diagnosis, gender and etiology of the underlying liver disease do not influence these findings. Conclusion: the C282Y mutation in the HFE gene is not related to the risk of HCC in non-hemochromatosis patients. The H63D mutation is associated with a higher risk of HCC in cirrhotic patients irrespective of their underlying liver disease.

Introducción: el síndrome del intestino irritable (SII) es una patología controvertida, donde ante la escasez de evidencia científica las recomendaciones sobre su manejo clínico y su definición vienen determinadas por métodos de consenso de expertos. Objetivo: obtener la opinión de los médicos de nuestro país implicados en el manejo de pacientes con SII y conocer los puntos de acuerdo en las principales cuestiones clínicas que plantea. Material y métodos: se realizó un estudio Delphi a nivel nacional mediante dos envíos a 100 médicos de atención primaria y gastroenterólogos. El cuestionario incluía preguntas sobre el concepto, diagnóstico y tratamiento del SII, evaluando el grado de acuerdo entre los participantes. Resultados: el 55% de los encuestados completó los dos envíos. Se obtuvo acuerdo respecto a los síntomas que caracterizan al SII y los de alarma. No existió una actitud clara ante el paciente sin síntomas de alarma, pero sí acuerdo respecto a la realización de colonoscopia en su presencia. Se señaló la necesidad de realizar estudios complementarios en mayores de 40 años. En el tratamiento no encontramos una actitud uniforme, aunque parece existir una orientación diferente según el síntoma predominante. Conclusiones: los médicos participantes en el estudio demuestran a través de sus respuestas un buen conocimiento conceptual del SII, si bien las discrepancias observadas en las cuestiones sobre diagnóstico y tratamiento demuestran la complejidad y falta de uniformidad que existe en el manejo diario de este síndrome.Introduction: lack of evidence in most clinical situations regarding irritable bowel syndrome (IBS) enhances the importance of an expert's opinion, which will guide management and even the concept underlying the disease. Objective: to delve into the knowledge and degree of agreement on main clinical skills for this syndrome among physicians involved in its management. Material and method: two rounds of a Delphi survey were conducted on 100 physicians: general practitioners (GPs) and gastroenterologists. The questionnaire evaluated agreement among participants in some aspects regarding the definition, diagnosis, and treatment of IBS. Results: fifty-five percent of participants completed the two-round survey. Agreement was achieved regarding the definition of typical symptoms and red flags characterizing IBS. Although there was no consensus regarding the appropriate management of patients without alarm symptoms, the performance of a colonoscopy on any patient presenting red flags was suggested. Patients were thought to require a wider examination when older than 40. A well defined line of IBS treatment was not found, albeit most physicians tended to choose it depending on the main complaint. Conclusion: interviewed physicians showed adequate theoretical knowledge of IBS, but lack of uniformity on diagnosis and treatment approach reflects the controversial day-by-day management of this syndrome.

Introduction: the capsule endoscopy (CE), from his approval, has become a first line diagnostic procedure for the study of the small bowel disease. The aim of this study is to report our experience since the implantation of this technique in our hospital. Material and methods: retrospective review of the CE undertaken in Department of Endoscopy. There was gathered in every case the age, sex, motive of consultation, previous diagnostic procedures, capsule endoscopy findings and complication of the technique. One took to end a descriptive and analytical analysis. Results: there was achieved a total of 416 explorations in 388 patients. The obscure gastrointestinal bleeding was the most frequent indication (83.30%) followed by suspected Crohn's disease (7.5%). Angiodisplasia was the endoscopic lesion more frequently detected (42.2%), especially, in patients with digestive bleeding of obscure origin (OR 3.13 p < 0.001), followed by the flebectasia (10.6%) and the ulcer suspicious of Crohn’s disease (9.9%). The global diagnostic yield as for the detection of injuries was 77.34% with a case of "not defecation of the capsule' and therefore need of laparotomy. Conclusions: the capsule endoscopy is a technique consolidated and as his potential is known, his indications are extended. The obscure gastrointestinal bleeding is the most frequent indication and the angiodisplasia the most identified injury. Once known his diagnostic yield, larger studies are needed that assess the influence of capsule endoscopy on clinical outcoumes.Introducción: la cápsula endoscópica desde su aprobación se ha convertido en un procedimiento diagnóstico de primera línea para el estudio del intestino delgado. El objetivo del estudio es exponer la experiencia desde la implantación de esta técnica en nuestro hospital. Material y métodos: se hizo una revisión retrospectiva de los estudios realizados en el Servicio de Endoscopia. Se recogió en cada caso la edad, sexo, motivo de consulta, procedimientos diagnósticos previos, diagnósticos endoscópicos e incidencias inherentes a la técnica y se llevó a cabo un análisis descriptivo y analítico. Resultados: se realizaron un total de 416 exploraciones en 388 pacientes. La hemorragia digestiva de origen oscuro fue la indicación más frecuente (83,30%) seguida de la sospecha de enfermedad de Crohn (7,5%). La angiodisplasia fue la lesión endoscópica más detectada (42,2%) cuando se analizó la hemorragia digestiva oscura (OR 3.13 p < 0,001) seguida de la flebectasia (10,6%) y las úlceras sugerentes de enfermedad de Crohn (9,9%). La rentabilidad global en cuanto a la detección de lesiones fue del 77,34% con un caso de "no defecación de la cápsula' y por lo tanto de necesidad de laparotomía. Conclusiones: la cápsula endoscópica es una técnica consolidada y a medida que se conoce su potencial, se van ampliando sus indicaciones. La hemorragia digestiva de origen oscuro es la indicación más frecuente y la angiodisplasia la lesión más identificada. Una vez conocida su eficacia diagnóstica se hace necesario determinar mediante estudios a gran escala y con metodología precisa la rentabilidad clínica de la misma.

Objectives: to estimate the impact of gastroesophageal reflux (GER) symptoms on the utilization of healthcare services and work absenteeism in Spain. Methods: a cross-sectional study on 2,500 subjects representative of the Spanish population from 40 to 79 years of age. Data were collected via a telephone interview in January 2002 using Locke's questionnaire after its cross-cultural adaptation and validation for telephone use in Spain. Results: GER is responsible for 296.8 doctor consultations (95% CI: 245.3-348.7) per 1,000 inhabitants per year, for 24 esophagogastrointestinal radiographic studies per 1,000 inhabitants per year (95% CI: 18-30), for 32.4 (95% CI: 25.5-39.3) high digestive endoscopies per 1,000 inhabitants per year, and for the loss of 201 (95% CI: 0-411.1) working days per 1,000 employed inhabitants with GER per year. In relation to medication intake, GER resulted in 4,092 (95% CI: 3,300-5,133) treatment days with H2 antagonists per 1,000 inhabitants per year, 9,030 (95% CI: 7,846-10,332) treatment days with proton pump inhibitors per 1,000 inhabitants per year, and 1,082 (95% CI: 519-1,549) treatment days with prokinetics per 1,000 inhabitants per year. Conclusions: GER has a large impact on the utilization of healthcare resources and work absenteeism in Spain, in contrast to the widespread belief that it is an illness of little importance.

Background and objectives: interleukin-10 (IL-10) has a key role in regulating mucosal inflammation in inflammatory bowel disease. In our population of Spanish ulcerative colitis (UC) patients, we have previously demostrated that two polymorphisms (IL-10.G14 microsatellite allele and homozygous for the -1082G alelle (guanine at position -1082)) in the IL-10 gene were susceptibility markers for disease. No data exist regarding the relationship of these IL-10 polymorphims with phenotypic subpopulations in UC. Therefore, this study sought to examine the contribution of IL-10 polymorphims to phenotypical variability in UC. Material and methods: a cohort of 215 Spanish unrelated patients with UC recruited in a single center was studied. All patients were rigorously phenotyped and followed for at least 3 years (mean time: 11.8 years). The clinical phenotype was established before genotyping. Genotyping was performed using polymerase chain reaction (PCR) assays. Results: patiens with UC included 129 (60%) men and 89 (40%) women. Mean age at diagnosis was 38 years, with a range of 8-83. Disease extent included 127 (59.1%) left-side patients and 88 (40.9%) extensive patients. Neither UC phenotype variable was associated with the presence of susceptibility polymorphims (10G14 microsatellite and -1082G alelle). Conclusions: in Madrid's Spanish population of UC patients, the carrying of the ILG14 microsatellite or -1082G polymorphism in the IL-10 gene was not associated with phenotype of disease.Introducción y objetivo: el gen de la interleuquina 10 (IL-10) tiene un papel clave en la regulación de la inflamación intestinal en la enfermedad inflamatoria intestinal. Recientemente hemos descubierto que dos polimorfismos del gen de la IL-10, el microsatélite IL-10.G14 y ser homocigoto -1082G (guanina en la posición 1082 del gen promotor de la IL-10) son marcadores de susceptibilidad para padecer colitis ulcerosa (CU). No existen datos que demuestren si estos polimorfismos de la IL-10 se correlacionan con las características fenotípicas de la CU. En este trabajo se estudia la relación entre estos polimorfismos del gen de la IL-10 y las diferentes características fenotípicas de la CU. Material y métodos: se estudió una cohorte de 215 pacientes españoles no emparentados que son atendidos habitualmente en la consulta de un único centro hospitalario. Todos los pacientes fueron rigurosamente fenotipados y seguidos clínicamente durante al menos 3 años (tiempo medio de seguimiento 11,8 años). El fenotipaje se realizó antes de conocer el genotipo de los pacientes. El genotipaje se realizó según las técnicas habituales de reacción en cadena de la polimerasa. Resultados: se incluyeron 129 (60%) hombres y 89 (40%) mujeres. La edad media en el momento del diagnóstico fue de 38 años, rango (8-83). La extensión de la CU fue colitis izquierda en 127 (59,1%) pacientes y extensa en 88 (40,9%). Ninguna de la svariables fenotípicas estudiadas se asoció con la presencia o ausencia de los polimorfismos (microsatélite IL10G14 y homocigoto para el alelo -1082G) relacionados con la susceptibilidad a sufrir CU. Conclusiones: en la población española del área de Madrid, los pacientes con CU que son portadores del microsatélite IL10G14 y/o homocigotos -1082G del gen promotor de la IL-10 no se correlacionan con ninguna característica fenotípica de la enfermedad.

Background: sixty percent of patients with irritable bowel disease (IBS) are hypersensitive to rectal distension. It is uncertain to what extend the identification of this abnormality has an impact in the clinical outcome. Objective: to evaluate if rectal hypersensitivity is associated with a different clinical outcome, prognosis and use of medical resources. Material and methods: patients with IBS (Rome II criteria) who underwent a rectal distension study at least one year before were eligible if they have not been included in any research protocol since then. We reviewed how many times in the last year they came to emergency room, underwent an endoscopy, and consulted a gastroenterologist or other medical physician for any reason. Also, a telephone interview was done by a gastroenterology fellow using a structured questionnaire to evaluate the frequency and severity of their symptoms in the last year and last month. Results: a total of 52 patients were eligible and 38 were included. Forteen were not included because inability to made a phone contact or did not consent to phone interview. Twenty six patients were hypersensitive and 12 normosensitive. Both groups had similar symptoms (frequency and severity) but hypersensitive patients visited less to the gastroenterologist (1.2 ± 0.2 vs. 2.9 ± 0.6 times yearly, p < 0.01). Conclusion: identification of rectal hypersensitivity to distension is associated to less consultation to gastroenterologist, although severity and frequency of symptoms are not modified. Finding of an objective explanation of the symptoms seems to help patients to understand their disease, leading to a decrease in resources' use.Introducción: el 60% de los pacientes con SII tienen hipersensibilidad a la distensión rectal. Se desconoce si la identificación de esta alteración puede modificar su evolución. Objetivo: evaluar si la hipersensibilidad a la distensión rectal se asocia con un diferente pronóstico respecto a la presentación de síntomas y la utilización de recursos sanitarios en pacientes con SII. Material y métodos: se incluyeron pacientes con SII según criterios de Roma II, que habían sido sometidos a un estudio de distensión rectal. Se recogieron datos de los registros informáticos sobre asistencia a consultas especializadas, realización de endoscopias, asistencia a urgencias e ingresos hospitalarios. Además, se realizó entrevista telefónica en la que se interrogó acerca de la existencia de síntomas a lo largo del último año y último mes (características, duración y severidad). Resultados: se evaluaron 38 pacientes, 26 con hipersensibilidad en el estudio de distensión basal y 12 normosensibles. En el momento de la recogida de datos (registro informático y entrevista telefónica) el seguimiento medio era de 2,39 años después del estudio de distensión. Los sujetos hipersensibles presentaron una clínica similar a aquellos normosensibles. Se registró una menor tasa de frecuentación anual en las consultas de Aparato Digestivo (1,2 ± 0,2 vs. 2,9 ± 0,6, p < 0,01) por parte de los pacientes hipersensibles sin existir diferencias en el resto de variables estudiadas. Conclusión: la identificación de hipersensibilidad visceral en pacientes con SII conlleva una notable reducción de las consultas al gastroenterólogo, sin que esto pueda explicarse por la mejoría de los síntomas, ni por una menor tendencia a realizar otras consultas médicas.

Treatment of perianal fistulas in Crohn's disease should be defined on an individual basis. A combined medical and surgical approach is the optimal treatment. Adequate management of perianal fistula disease is based on the presence or absence of active proctitis, anatomic location, and fistula type. Furthermore, the presence of perianal abscesses must be ruled out. This evaluation includes digital rectal examination, endoscopy, and examination under anesthesia combined with pelvic magnetic resonance imaging or anorectal endoscopy ultrasonography findings.El tratamiento de la enfermedad fistulosa perianal (EFPA) en la enfermedad de Crohn (EC) debe de ser individualizado y combinar procedimientos médicos y quirúrgicos. Los aspectos clave para un adecuado manejo de la EFPA son determinar la existencia o no de afectación rectal, las características anatómicas y tipo de fístulas, y descartar la existencia de abscesos perianales. Para lograrlo es necesaria una aproximación diagnóstica que incluya inspección y tacto rectal, endoscopia y exploración bajo anestesia combinado con resonancia magnética pélvica o ecografía anal.

The hyperferritinemia-cataract syndrome, inherited as a Mendelian dominant trait, is due to mutations in the 5’ non-coding region of the ferritin light chain gene that modifies the shape of the IRE (iron responsive element) region, which loses its normal function of regulating the synthesis of ferritin light chains. Excess of light chains results in complexes that accumulate into the lens giving rise to early cataracts. We present a Spanish family with seven affected members through three generations. A genetic study reveals a substitution of a single base (C?T) at position 33 in the IRE sequence in the index case and in one affected brother, whereas a non-affected sister shows the normal sequence. The hyperferritinemia-cataract syndrome was identified in 1995 and is still poorly understood. Clinicians should suspect it when treating any subject with early cataracts, even more if they are familial, or in patients with very high levels of ferritinemia without evidence of iron overload. There are no known consequences of the syndrome other than cataracts, and its proper diagnosis carries a favorable prognosis and eliminates the risk of unnecessary phlebotomies.El síndrome de hiperferritinemia y cataratas es un trastorno autosómico dominante debido a mutaciones en la región 5’ no codificante del gen de la cadena ligera de ferritina, localizado en 19q.3-q13,4. Como consecuencia se altera la morfología de la region IRE (iron responsive element) que pierde su capacidad normal de regular la síntesis de cadenas ligeras de ferritina, las cuales se sintetizan en exceso y forman complejos que se acumulan en el cristalino, dando lugar a cataratas precoces. Se presenta una familia española con 7 miembros afectados en tres generaciones. El estudio genético pone de manifiesto un cambio de una sola base C?T en posición 33 del IRE en el caso index y un hermano, mientras que otra hermana no afecta del síndrome no mostraba mutaciones. Este síndrome se identificó en 1995 y aún es poco conocido. La sospecha clínica debe surgir ante sujetos con cataratas precoces, especialmente si son de tipo familiar, o en personas con cifras elevadas de ferritina sin causa aparente y sin signos de sobrecarga de hierro. El trastorno no parece tener otras consecuencias que las cataratas y su identificación permite establecer un pronóstico favorable y evitar sangrías terapéuticas innecesarias.

Objective: to describe our experience with granulocyte apheresis to induce remission in patients with active Crohn's disease refractory to conventional treatment. We summarize the results previously obtained with this technique. Conclusions: granulocyte apheresis is a safe and well tolerated therapeutic modality that can be a valid therapeutic alternative in the induction of remission in inflammatory bowel disease, although controlled clinical trials must be conducted to define long-term efficacy, as well as to establish “optimal patient” selection, re-treatment interval, and number of sessions.Objetivo: describir nuestra experiencia con la granulocitoaféresis para inducir la remisión en pacientes con enfermedad de Crohn activa refractarios al tratamiento convencional. Realizamos un resumen de los resultados previos obtenidos con esta técnica. Conclusiones: la granulocitoaféresis es una modalidad terapéutica segura y bien tolerada que puede ser una alternativa terapéutica válida en la inducción de la remisión en la enfermedad inflamatoria intestinal, siendo necesaria la realización de ensayos clínicos controlados para poder definir su eficacia a largo plazo, la selección del "paciente óptimo", intervalos de retratamiento y número de sesiones.

Background: sixty percent of patients with irritable bowel disease (IBS) are hypersensitive to rectal distension. It is uncertain to what extend the identification of this abnormality has an impact in the clinical outcome. Objective: to evaluate if rectal hypersensitivity is associated with a different clinical outcome, prognosis and use of medical resources. Material and methods: patients with IBS (Rome II criteria) who underwent a rectal distension study at least one year before were eligible if they have not been included in any research protocol since then. We reviewed how many times in the last year they came to emergency room, underwent an endoscopy, and consulted a gastroenterologist or other medical physician for any reason. Also, a telephone interview was done by a gastroenterology fellow using a structured questionnaire to evaluate the frequency and severity of their symptoms in the last year and last month. Results: a total of 52 patients were eligible and 38 were included. Forteen were not included because inability to made a phone contact or did not consent to phone interview. Twenty six patients were hypersensitive and 12 normosensitive. Both groups had similar symptoms (frequency and severity) but hypersensitive patients visited less to the gastroenterologist (1.2 ± 0.2 vs. 2.9 ± 0.6 times yearly, p < 0.01). Conclusion: identification of rectal hypersensitivity to distension is associated to less consultation to gastroenterologist, although severity and frequency of symptoms are not modified. Finding of an objective explanation of the symptoms seems to help patients to understand their disease, leading to a decrease in resources' use.

Whipple's disease is a chronic systemic infection produced by the actinomycete Tropheryma whipplei. Endoscopic tests are key in the diagnosis as they allow biopsy and histopathological examination for definitive diagnosis of this entity. We present a case of Whipple's disease where capsule endoscopy, uncommon for the diagnosis of this condition, was essential for it and its performance before and after antibiotic treatment allows to describe the macroscopic evolution of the findings in the small bowel. This case illustrates the usefulness of capsule endoscopy to allow complete examination of the small bowel disease in which up to 30% of patients may present with normal endoscopy.