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La incorporación de los agentes biológicos al arsenal terapéutico disponible en el paciente con enfermedad autoinmune sistémica (EAS) ha supuesto un importante avance en el tratamiento de estos pacientes. No obstante, su utilización en las EAS está actualmente fuera de las indicaciones aprobadas por las agencias farmacéuticas internacionales, lo que origina numerosos interrogantes sobre cuándo y cómo utilizarlos.

La creación del primer BLOG en enfermedades autoinmunes pretende contribuir al intercambio de experiencias, noticias y opiniones sobre el mundo de las EAS en general, y del papel de las terapias biológicas en particular, entre los especialistas que de forma específica nos dedicamos a estas enfermedades. Un foro abierto que nos permitirá exponer inquietudes y experiencias de forma rápida y totalmente accesible.

Bienvenidos a todos!!

Manuel Ramos Casals
Coordinador del Proyecto BIOGEAS
Barcelona, 10 de abril de 2007



Blog de Enfermedades Autoinmunes Sistémicas

EL PORQUÉ DE LAS AUTOINMUNES
Manuel Ramos-Casals -2007-08-13 19:45:59

Suele ser una de las preguntas más frecuentes que nos hacen nuestros pacientes. Doctor, ¿por qué a mí? ¿Cuál es el motivo de que tenga esta enfermedad? No es fácil responder si se tiene en cuenta que ni los propios profesionales tenemos una idea aproximada sobre la etiopatogenia de estas enfermedades.
Suelo recurrir al tópico de la “hipótesis” de la combinación de factores propios y factores externos. Resulta fácil explicar que una determinada persona posee una determinada carga genética que la hace “susceptible”, y que en el transcurso de su vida “tropieza” con un factor ambiental capaz de despertar el desarrollo de la enfermedad. Y para redondear la explicación, incluyo la metáfora de la llave y la cerradura, cada persona debe tener su propia “llave” en el ambiente que “abra la puerta a su enfermedad”.
Evidentemente la simplicidad de esta explicación no debe tener nada que ver con la realidad, de la que sin duda estamos muy alejados a principios de este nuevo siglo. Los intentos para identificar un gen o varios que influyan decisivamente en la etiopatogenia de las EAS han sido (y seguro que continuarán siéndolo) estériles. Quizá en la proteómica se obtengan mejores resultados, pero tengo la sensación que el desarrollo de las nuevas técnicas de investigación multigénica está yendo a una velocidad muy diferente a la de los instrumentos necesarios para una correcta interpretación de los resultados. La genómica y la proteómica se están desarrollando con gran rapidez, pero no tengo muy claro que los científicos estén preparados para trasladar a la práctica clínica el significado de cientos o miles de “dots” rojos, amarillos o verdes, por decirlo de una forma simplista. Esta revolución multigénica debe ir acompañada de una revolución paralela en la forma de evaluar sus resultados. Es fácil intuir la implicación de un resultado significativo en un multivariado o en una curva de Kaplan-Meier, pero dudo que sea igual de intuitivo interpretar los resultados de cientos o miles de variables (genes) en un determinado individuo en un determinado momento de la evolución. El desarrollo de la bioinformática va a ser determinante, con procesadores y programas específicamente diseñados y analistas bioinformáticos integrados en los futuros grupos de investigación.
El panorama actual en la otra parte de nuestra explicación etiopatogénica (los factores externos o ambientales) es mucho más desalentador. En las infecciones, la mayoría de resultados etiopatogénicos esperanzadores en los estudios básicos no suelen “trasladarse” al mundo real de los pacientes, y excepto contadas ocasiones (VHC, parvovirus), el binomio infección-autoinmunidad que tan bien funciona en el lab no representa ningún avance a la cabecera del paciente. Respecto a las hormonas y a pesar de la evidente predominancia del sexo femenino en la mayoría de nuestras enfermedades, los estudios al respecto suelen ser, por decirlo suavemente, confusos. Y el tema de los factores tóxico-ambientales prácticamente no existe en las autoinmunes, a pesar de ejemplos como el del aceite de colza o las prótesis de silicona. ¿Cuál puede ser el papel de factores relacionados con el estilo de vida y forma de trabajar actuales? Trabajamos y vivimos rodeados de tecnología y de ondas de todo tipo (ya empiezan a aparecer trastornos físicos en personas que trabajan en los llamados “edificios inteligentes”), aire acondicionado, polución, conservantes y colorantes… Por no hablar del stress, la depresión, la soledad, la ansiedad, el odio.
¿Cuántos genes alterados necesita una persona para padecer una EAS? ¿Y con cuántos factores ambientales, de qué tipo y en qué secuencia temporal deben interactuar con esta carga genética? Cientos, o quizás miles, de interacciones, algunas irreversibles, otras quizá no; algunas que suman, otras que restan. Y todo ello para intentar explicar una enfermedad en una determinada persona, resultados que posiblemente no sirvan para explicar la misma enfermedad en la persona de al lado. La propia heterogeneidad de estas enfermedades en su expresión clínica e inmunológica, diferente en cada persona, seguro que tiene su traducción en un mismo grado de heterogeneidad desde el punto de vista etiopatogénico. Miles de pacientes distintos, miles de procesos etiopatogénicos distintos. La búsqueda de patrones etiopatogénicos comunes para cada una de las enfermedades autoinmunes es, de momento, estéril.
¿Desalentador? Más bien estimulante. Sin duda, cuánto más sabemos, más dudas tenemos. Hablar de certezas y evidencias en la etiopatogenia de las EAS es, actualmente, una falacia. Y posiblemente lo continúe siendo durante bastantes años.


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P.Martínez-2009-03-13 14:48:08

Tengo un hijo de 15 años con un sindrome nefrótico hidiópático de un año de evolución el cuál no ha respondido por el momento ni a Prednisona.Genoxal,etcc ahora está con micofelonato y 1 dosis de rituximad.Me gustaría conocer su opinión.Gracias

-2009-03-13 14:47:35

Tengo un hijo de 15 años con un sindrome nefrótico hidiópático de un año de evolución el cuál no ha respondido por el momento ni a Prednisona.Genoxal,etcc ahora está con micofelonato y 1 dosis de rituximad.Me gustaría conocer su opinión.Gracias

Marta Cubiles-2007-12-03 15:29:35

Hola, me llamo Marta y quisiera preguntar si una tiroiditis de hashimoto podría desatarme cuadros depresivos que se repiten desde el año 2000 , fecha en la que al parecer se me produjo la tiroiditis después de un parto.
Gracias
Atentamente
Marta