Publication: ¿Existe la enfermedad mixta del tejido conectivo sin anticuerpos anti-U1-RNP?
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2018-11-27
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Universidad Complutense de Madrid
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Abstract
La enfermedad mixta del tejido conectivo (EMTC) es una enfermedad reumática autoinmune sistémica (ERAS) caracterizada por la asociación de manifestaciones clínicas de lupus eritematoso sistémico (LES), esclerosis sistémica cutánea (ESC) y polimiositis-dermatomiositis (PDM), en presencia de títulos elevados de anticuerpos anti-U1-RNP en el suero de los pacientes. Sus principales síntomas son la poliartritis, el edema de manos, el fenómeno de Raynaud, la esclerodactilia, la miositis y la hipomotilidad esofágica.A pesar de que ha sido ampliamente discutido, actualmente la mayoría de autores acepta a la EMTC como una entidad independiente. Algunos sugieren que estos pacientes podrían pertenecer a subgrupos o etapas tempranas de ERAS definidas, como LES o ESC, o ser, en realidad, síndromes de solapamiento de las ERAS (so-ERAS).Justificación: En la práctica clínica diaria se pueden identificar pacientes con manifestaciones clínicas compatibles con EMTC en ausencia de anticuerpos anti-U1-RNP. Esto, junto al hecho de que esta enfermedad es la única con detección de anticuerpos como criterio obligatorio para su clasificación, motiva la realización del estudio...
Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD), first described by Sharp et al. in 1972. It is characterized by the association of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis (PDM), in the presence of elevated titers of anti-U1-RNP antibodies. Main symptoms of the disease are polyarthritis, hand edema, Raynaud's phenomenon, sclerodactyly, myositis and esophageal hypomotility.Although widely discussed, most authors today accept MCTD as an independent entity. Others, however, suggest that these patients may belong to subgroups or early stages of certain definite connective diseases, such as SLE or SSc, or are, in fact, SARD overlap syndromes.In clinical practice, patients with clinical manifestations compatible with MCTD may be identified in the absence of anti-U1-RNP antibodies. This, together with the fact that this disease is the only one where detection of antibodies is a mandatory classification criterion, motivates the realization of this study...
Mixed connective tissue disease (MCTD) is a systemic autoimmune rheumatic disease (SARD), first described by Sharp et al. in 1972. It is characterized by the association of clinical manifestations of systemic lupus erythematosus (SLE), cutaneous systemic sclerosis (SSc) and polymyositis-dermatomyositis (PDM), in the presence of elevated titers of anti-U1-RNP antibodies. Main symptoms of the disease are polyarthritis, hand edema, Raynaud's phenomenon, sclerodactyly, myositis and esophageal hypomotility.Although widely discussed, most authors today accept MCTD as an independent entity. Others, however, suggest that these patients may belong to subgroups or early stages of certain definite connective diseases, such as SLE or SSc, or are, in fact, SARD overlap syndromes.In clinical practice, patients with clinical manifestations compatible with MCTD may be identified in the absence of anti-U1-RNP antibodies. This, together with the fact that this disease is the only one where detection of antibodies is a mandatory classification criterion, motivates the realization of this study...
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Tesis de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Medicina, leída el 23-06-2017