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Enfermedad de Still del Adulto: Estudio de Cohorte Adult Still's Disease: Cohort Study  [cached]
Uriel Panqueva,Luis Alberto Ramírez,José Félix Restrepo,Federico Rondón
Revista Colombiana de Reumatología , 2009,
Abstract: Objetivo: Describir las características clínicas, paraclínicas y manejo de la enfermedad de Still del adulto (E.S.A.). Métodos: Análisis retrospectivo de una cohorte de 24 pacientes. Resultados: Las características clínicas fueron: fiebre (100%), rash (79.1%) y artritis (66.66%). Leucocitosis (75%) fue la alteración paraclínica más frecuente, seguida por un incremento de la PCR, VSG y ferritina en 70.8%, 66.65% y 62.5%, respectivamente. El 50% de los pacientes presentaron un curso monocíclico; el 33%, policíclico sistémico y el 17%, policíclico articular. No se presentaron casos de monocíclico poliarticular. Se evidenciaron manifestaciones inusuales de enfermedad tales como: urticaria en 7 pacientes (29%); enfermedad pulmonar intersticial, en 6 pacientes (25%); meningitis aséptica, 4 pacientes (16.6%) y SDRA, en 4 pacientes (16.6%). Por su parte, todos los pacientes recibieron esteroides y 9 de ellos (37.5%) necesitaron tratamiento con pulsos de metilprednisolona. Dentro de las drogas modificadoras, el metotrexate fue el medicamento más usado en 15 casos (62.5%), seguido por cloroquina sola o combinada en 11 pacientes (45.8%). Además, 3 pacientes (12.5%), requirieron tratamiento con terapia anti TNF por pobre respuesta a la terapia convencional. Fallecieron 2 pacientes (8.4%) asociados a cuadros de SDRA. Conclusiones: La ESA tiene un amplio y difícil diagnóstico diferencial a pesar de manifestaciones clásicas. La presencia de expresiones clínicas poco usuales puede retardar el diagnóstico y tratamiento de ESA. La ESA no es una enfermedad benigna y puede cursar con alta mortalidad cuando se asocia a manifestaciones pulmonares severas. Purpose: describe the clinical and laboratory finding, as well as the treatment, of adult still's disease (ASD). Methods: retrospective analysis of a 24 patients cohort. Results: clinical features were: fever (100%), rash (79.1%) and arthritis (66.6%). Most frequent laboratory alterations were: leukocytosis (75%), followed by increased PCR, VSG and ferritin, 70.8%, 66.65% and 62.5% respectively. 50% of the patients showed a monocyclic course, while 33% showed polycyclic systemic and 17% joint polycyclic. No joint monocyclic cases were found. Besides, some unusual manifestations such urticaria in 7 patients (29%); interstitial lung disease in 6 patients (25%); aseptic meningitis in 4 patients (16.6%) and SDRA in 4 patients (16.6%) were found. All the patients received steroid and 9 of them (37.5%) required therapy with IV methilprednisolone. Methotrexate was the most used medication between all; DMARD in 15 cases (62.5%), fo
Valor de la ferritina sérica para el diagnóstico de la enfermedad de Still del adulto Value of serum ferritin for the diagnosis of adult Still's disease  [cached]
Jorge Luis León álvarez,Nelson Roselló Silva,Luis Alberto Ochoa Montes,Alfonso Vásquez Biset
Revista Cubana de Medicina , 2008,
Abstract: La enfermedad de Still del adulto es una enfermedad inflamatoria sistémica de etología desconocida, de rara presentación; se caracteriza por fiebre alta, artritis, leucocitosis neutrofílica y exantema evanescente. Los valores de ferritina sérica por encima de 3 000 ng/mL son de gran valor para establecer el diagnóstico. Se reportó un paciente de 25 a os de edad con enfermedad de Still del adulto quien presentó fiebre prolongada, rash dérmico, odinofagia y artritis. Se realizaron exámenes complementarios mediante los que se demostró la existencia de leucocitosis, hipertransaminemia, ferritina sérica muy elevada, anticuerpos antinucleares y factor reumatoides negativos. Se administró indometacina con la cual se eliminaron los síntomas. Se concluyó que los niveles de ferritina sérica elevados son de valor para el diagnóstico de enfermedad de Still del adulto activa y su disminución se correlaciona con la evolución favorable del cuadro clínico. Adult Still's disease is a rare systemic inflammatory disease of unknown etiology. It is characterized by high fever, arthritis, neutrophilic leukocytosis and evanescent exanthema. The values of serum ferritin over 3 000 ng/mL are very useful to establish the diagnosis. A 25-year-old patient with adult Still's disease that presented prolonged fever, rash, odinophagia and arthritis was presented. The existence of leukocytosis, hypertransaminemia, very elevated serum ferritin, antinuclear antibodies and negative rheumatoid factors was confirmed by complementary tests. The symptoms disappeared on administering indomethacin. It was concluded that the high levels of serum ferritin have a great value to diagnose active adult Still's disease and that its reduction is correlated with the favorable evolution of the clinical picture.
Enfermedad de Still del adulto: Una gran simuladora. Experiencia clínica basada en 20 casos Adult Still's disease: Retrospective review of 20 patients  [cached]
M ángela Carre?o,Aurelio Carvallo,Cecilia Trejo,Francisco Ballestero
Revista médica de Chile , 2009,
Abstract: Background: Adult Still's disease is an inflammatory disorder characterized by quotidian fevers, and an evanescent rash. Its presentation can be acute or subacute. Aim: To report our experience with Adult Still's disease. Material and methods: Systematic retrospective review of medical records of nine men and 11 women aged between 17 and 57 years, with Still's disease, followed in two public hospitals of Metropolitan Santiago. Results: Eighty percent of patients had a prior different diagnosis. All presented with fever and joint involvement. Eighty percent had malaise, 80% had odynophagia, 80% had an evanescent rash, 70% had myalgias, 50% had lymph node enlargement and 40% had splenomegaly. Laboratory showed eukocytosis in 80% and a high erythrocyte sedimentation rate in all. High ferritin levels were detected in 80%, and became an important diagnosis clue. Initial treatment was based on non steroidal antiinflammatory drugs, however 80% required steroids and 35% required methotrexate. Azathioprine, sulphalazine, hydroxychloroquine and eflunomide were used occasionally. Eleven patients had a single episode, nine had a relapsing disease and four had a chronic or persistent mode. Conclusions: Adult Still's disease must be suspected in patients with fever of unknown origin. An early diagnosis and adequate treatment of the disease are associated with a favorable evolution and prognosis.
Cirugía en la enfermedad de Hirschsprung del adulto Surgery in adult Hirschsprung’s disease
Luis Jorge Lombana,Luis Carlos Domínguez
Revista Colombiana de Gastroenterologia , 2007,
Abstract: La enfermedad de Hirschsprung del adulto es una entidad infrecuente de incidencia desconocida. El tratamiento es quirúrgico, pero la mayoría de las opciones disponibles son aplicaciones de la técnica utilizada en neonatos y ni os menores, o de las empleadas en otras patologías del adulto como el megacolon idiopático o el megacolon chagásico. Dada la naturaleza de la enfermedad, las alternativas más frecuentemente utilizadas son la miectomía anorrectal y el procedimiento de Duhamel. Decidimos presentar un caso de enfermedad de Hirschsprung de segmento corto y otro de segmento ultracorto en adultos jóvenes y discutir las opciones de tratamiento utilizados, dado el escaso número de reportes, pacientes y experiencias quirúrgicas reportados en la literatura Hirschsprung′s disease of the adult is an infrequent entity of unknown incidence. Surgery is the treatment of choice, but many available options include techniques applied in newborns and children or those used in other pathologies such as idiopathic megacolon of the adult or Chagasic megacolon. Due to the nature of the disease, the alternatives more frequently used are the anorectal miectomy and the Duhamel′s procedure. We decided to present a case of short segment Hirschsprung′s disease and another of ultra - short segment in young adults and discuss treatment options, due to the rare number of reports, patients and surgical experiences reported in the literature
Differences between pediatric and adult celiac disease Diferencias entre la enfermedad celiaca infantil y del adulto  [cached]
Luis Rodrigo Sáez,D. Fuentes álvarez,I. Pérez Martínez,N. álvarez Mieres
Revista Espa?ola de Enfermedades Digestivas , 2011,
Abstract: Introduction: celiac disease (CD) is a common autoimmune condition (involves 1-2% of the general population) that develops at any age in life but manifests differently in children and adults. Objectives: to analyze clinical differences in disease expression between both groups, as well as findings at the time of diagnosis. Methods: a retrospective study of a series of patients diagnosed with CD during childhood (< 14 years) versus a series of adult patients (> 14 years). Results: a total of 187 patients were included, of which 43 were children and 144 were adults. Among clinical manifestations in children classic presentation forms predominated -34 patients (79%) versus 20 adult patients (14%) (p < 0.001) (OR = 23.4; 95% CI: 9.8-56.1). In contrast, atypical forms were predominant in the latter, and anemia was the most common finding in 61 patients (42%) versus 8 pediatric patients (19%) (p < 0.01). Adults had a greater diagnostic delay with a mean 10 ± 9 years versus 1 ± 2 years in children (p < 0.001). In adults, we found a higher frequency of associated autoimmune diseases (24.3 versus 9.3% in children) (p < 0.05). Regarding serum markers, TGt-2 was more commonly positive among children (88%) as compared to adults (31%) (p < 0.001); (OR = 21.4: 95% CI: 7.2-63.6). We found similar results with regard to the presence of villous atrophy, which was more common in children (95%) than in adults (33%) (p < 0.001) (OR = 41.0; 95% CI: 9.5-76.7). As regards genetic markers, DQ2 was somewhat more common in children (97.7%) than in adults (90.3%) whereas DQ8 was less common in children (2.3%) than in adults (9.7%), with no significant differences between groups. Patients negative for both markers were not included. Conclusions: pediatric CD has clear differences when compared to adult CD, with classic forms predominating in the former, who also display a higher occurrence of positive serology and villous atrophy, and less diagnostic delay. In contrast, atypical forms predominate in the adult, with a lower occurrence of positive serology and milder histological forms. In these patients associated autoimmune conditions are more common and diagnostic delay is longer. Introducción: la enfermedad celiaca (EC) es un proceso frecuente (afecta al 1-2% en población general), de naturaleza autoimmune, que aparece a cualquier edad de la vida, pero que se presenta de forma diferente en el ni o que en el adulto. Objetivos: analizar las diferencias clínicas en las formas de expresión de la enfermedad entre ambos grupos, así como los hallazgos al momento del diagnóstico. Métodos
Coeliac disease: clinical features in adult populations Enfermedad celiaca: formas de presentación en el adulto  [cached]
A. Fernández,L. González,J. de la Fuente
Revista Espa?ola de Enfermedades Digestivas , 2010,
Abstract: Introduction: coeliac disease (CD) is a chronic disease of the small intestine, which is caused by gluten intolerance, producing malabsorption of nutrients and vitamins. Clinical manifestations of CD in adults are highly variable, including intestinal and extra-intestinal symptoms. The disease may also occur in individuals who are asymptomatic. Objective: our objective is to describe the incidence and clinical manifestations of CD in adults. Material and methods: a retrospective study was carried out in patients diagnosed of CD between January 1990 and December 2008. Diagnosis was based on serologic tests and duodenal biopsy, which were compatible with CD in all of them. Results: sixty eight adult patients were diagnosed of CD in this period. Mean age was 33 (18-65) years and 50 (74%) were women. The clinical manifestations were diarrhoea in 38 (55%), abdominal pain in 27 (40%), loss of weight in 15 (22%), dyspepsia in 13 (19%). Analytical results showed a slight increase of transaminases in 26 (38%), ferropenic anaemia in 33 (48.5%) cases, sub-clinical hypothyroidism in 3 (4.5%) patients, and folic acid deficiency in 16 (23.5%) cases. Almost all patients were diagnosed between 2000 and 2008: 60 (87%). Population-based incidence of CD in adults had increased from 0.7-2/100,000 per year in the nineties to 3.5-10.3/100,000 in the last years. Conclusions: CD can appear at any age and with a wide manifestation spectrum, which can be atypical in some cases. Patients with ferropenic anaemia and a negative response to treatment or those with an unexplained increase in transaminases should be screening for CD. Atypical manifestations and low suspect index can delay diagnosis even during years. There is a marked increase in the incidence-rates of CD in adults over time. Introducción: la enfermedad celiaca (EC) es una enfermedad crónica que afecta al intestino delgado, causada por intolerancia al gluten cuyas manifestaciones clínicas son muy variables incluyendo síntomas extraintestinales y formas asintomáticas. Objetivo: nuestro objetivo es describir la incidencia y manifestaciones clínicas de la EC del adulto. Métodos: estudio retrospectivo de los pacientes mayores de 18 a os diagnosticados de EC entre enero-1990 y diciembre-2008 mediante test serológicos y biopsia duodenal. Resultados: se incluyeron 68 pacientes con una mediana de edad de 33 a os (18-65); 50 (74%) mujeres. Las manifestaciones clínicas fueron: diarrea en 38 (55%), dolor abdominal en 27 (40%), pérdida de peso en 15 (22%), dispepsia en 13 (19%) y 3 dermatitis herpetiforme. Los principales datos an
Problemas diagnósticos en la enfermedad celiaca del adulto Diagnostic problems in adult celiac disease  [cached]
L. I. Fernández Salazar,N. de la Torre Ferrera,B. Velayos Jiménez,M. Nocito Colón
Revista Espa?ola de Enfermedades Digestivas , 2008,
Abstract: Introducción: la enfermedad celiaca (EC) es una enteropatía crónica de base inmune debida a una intolerancia al gluten en sujetos genéticamente predispuestos. Objetivos: a) describir clínica, enfermedades asociadas y serología en la EC del adulto; y b) estudiar la utilidad de la serología en el diagnóstico y su relación con la expresión clínica e histológica. Pacientes y métodos: se han estudiado de forma retrospectiva 31 pacientes adultos con diagnóstico de EC seguidos en consulta. Se recogieron datos referidos a los síntomas de presentación, enfermedades asociadas, bioquímica, serología (anticuerpos antigliadina y AEm) y genética (HLA DQ2). Se comprobó si la clínica típica o la positividad de AEm se asociaban a diferencias clínicas, serológicas o grado de atrofia vellositaria. Resultados: prácticamente el 50% de los pacientes tuvo manifestaciones clínicas atípicas y el 33% no tuvo síntomas gastrointestinales. La clínica típica se asoció a atrofia de vellosidades grado III b-c de Marsh (87 vs. 53%, p = 0,03). El 70% de los pacientes tuvo anticuerpos AEm positivos. Entre los pacientes con AEm fueron más frecuentes las mujeres (78 vs. 37%, p = 0,03) y la atrofia de vellosidades grado III b-c de Marsh (84 vs. 50%, p = 0,05). En el estudio genético, el 68,4% (13/19) eran portadores de los dos alelos. Conclusiones: la clínica de la EC del adulto es muy variable. La frecuencia que encontramos de AEm y genética (DQ2) es menor a la publicada. Clínica, grado de atrofia y serología podrían interrelacionarse. La genética puede complementar a los AEm en el diagnóstico. Introduction: celiac disease (CD) is a chronic immune-mediated enteropathy, resulting from a gluten intolerance in genetically predisposed individuals. Objetive: a) to describe clinical features, associated disorders and serology of CD in adults; and b) to study the main that serology displays in diagnosis, clinical and histological expression. Patients and methods: 31 patients diagnosed of CD in adulthood have been reviewed retrospectively, including clinical presentation, associated disorders, biochemical results, serological tests (anti-gliadin and anti-endomysial antibodies) and genetical features (HLA-DQ2). It has been studied the relation between typical presentations and AEm with clinical, serological or histological findings. Results: almost 50% of patients had atypical clinical manifestations and gastrointestinal symptoms were absent in 33%. Typical manifestations are associated with villous atrophy stage III b-c of Marsh's classification (87 vs. 53%, p = 0,03). 70% of patients shows AEm mo
Enfermedad de coats recidivante diagnosticada en sujeto adulto Adult-onset of recurrent coats disease
N. Vázquez Pulido,J.L. Laliena Santamaría,M.A. Del Buey Sayas,R. Burdeus Gómez
Archivos de la Sociedad Espa?ola de Oftalmología , 2007,
Abstract: Caso clínico: Paciente varón que con 30 a os tuvo el primer episodio de enfermedad de Coats y recurrencia 14 a os más tarde. Clínicamente ambos episodios tienen como síntoma de inicio visión borrosa y exploración típica de exudación masiva retiniana con corona de exudados duros. La angiografía presenta hallazgos característicos de telangiectasia retiniana con dilatación anormal de vasos con hiperfluorescencia precoz y fuga tardía. Discusión: Coats es una entidad clínica poco frecuente y con grado de severidad variable, que hacen difíciles los estudios randomizados prospectivos. Pese a los hallazgos característicos, hay que descartar otros diagnósticos tanto en el ni o como en el adulto causantes de esa misma clínica. Case report: A male diagnosed with Coats disease at the age of 30 years, had a relapse of this condition 14 years later. His first symptom of blurred vision occurred in both episodes and similar findings of unilateral retinal exudation and lipid deposition at boundary were seen. Angiography showed the characteristic early hyperfluorescence of the telangiectasias and late leakage of dye. Discussion: Coats disease is relatively uncommon and, as the degree of involvement varies from case to case, a randomized, prospective study of treatment would probably not be feasible. Despite the characteristic features of this disease, the differential diagnoses must be considered in both children and adults.
Enfermedad celíaca del adulto: aspectos endocrinológicos y nutricionales Adult celiac disease: endocrinological and nutritional issues  [cached]
D. Peteiro-González,M. A. Martínez-Olmos,R. Peinó,A. M.a Prieto-Tenreiro
Nutrición Hospitalaria , 2010,
Abstract: La enfermedad celíaca es una enteropatía autoinmune que aparece como respuesta a la ingesta de gluten en sujetos genéticamente predispuestos. Aunque históricamente se la ha considerado una patología pediátrica e infrecuente su prevalencia está próxima al 1% de la población general, siendo todavía más elevada en pacientes con determinadas patologías endocrinológicas y déficits nutricionales. El empleo de los anticuerpos antitransglutaminasa y antiendomisio y la endoscopia digestiva con toma de biopsia serán elementos clave para su diagnóstico. La instauración de una dieta sin gluten logrará la recuperación del trofismo intestinal y evitará el riesgo de complicaciones a largo plazo a la vez que mejora la calidad de vida del paciente. El seguimiento médico y nutricional será clave para lograr una buena adherencia terapéutica. Celiac disease is an autoinmune enterophaty induced by the ingestion of gluten in genetically susceptible individuals. Although historically it was thought that it was an infrequent pediatric disease, now it is know that its prevalence is close to 1% in the general population. It is even higher between patients with some endocrine disorders and nutritional deficits. The use of antitransglutaminase and antiendomisium antibodies and the endoscopical duodenal biopsy are the cornerstones for its diagnosis. The introduction of a gluten-free diet will achieve the normalization of the intestinal mucosa. It will avoid the risk of long term complications and an it will achieve an improvement in quality of life. Medical and dietitian long term follow-up will be important to improve the compliance to the treatment.
Enfermedad Celíaca del adulto: Experiencia clínica Adult celiac disease: clinical experience  [cached]
Carla Mancilla A,Ana María Madrid S,Jorge Valenzuela E,Antonio Morales B
Revista médica de Chile , 2005,
Abstract: The prevalence of celiac disease (CD) is unknown in Chile. We have recently noted a rise in the number of cases diagnosed among adults. Aim: To describe the clinical characteristics of a group of adult celiac patients. Patients and methods: Clinical data of patients older than 15 years with positive antitransglutaminase or antiendomysial autoantibodies and a duodenal biopsy characteristic of CD were retrospectively reviewed. Age at diagnosis, symptoms and signs and laboratory, endoscopic and histological findings, were analyzed. Results: Thirty seven patients (28 women), were studied. Median age at diagnosis was 41 years (range 15-69). Main symptoms and signs were diarrhea (78%), weight loss (38%) and abdominal pain (38%). Anemia was found in 49%, elevation of ESR in 57%, elevation of alkaline phosphatases in 54%, elevation of aspartate aminotransferase in 38% and a rise in alanine aminotransferase in 27%. Antiendomysial antibodies were positive in 17/22 (77%) and antitransglutaminase in 19/22 (86%) patients. Endoscopic findings were suggestive of CD in 47% of cases and duodenal biopsy showed intestinal villi atrophy in 34 (92%) patients. The three patients with normal histology had positive serology and a good response to gluten free diet. Conclusions: CD should be considered in the differential diagnosis of patients with unespecific digestive symptons, even when they present late in adult life. Serologic markers are a good diagnostic tool. A normal duodenal pathology does not exclude the diagnosis, if other diagnostic features are present
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