Abstract
Mixed connective tissue disease (MCTD) is a condition characterized by the overlap of features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and polydermatomyositis (PM/DM) in association with high titers of antibodies against a ribonuclear protein (RNP). Clinical manifestations of MCTD are extremely variable and disease onset may be undifferentiated.
Raynaud phenomenon, swollen fingers, arthritis, myositis, esophageal dysfunction and pulmonary hypertension represent the most frequent clinical manifestations. In the original description, MCTD was described as benign conditions characterized by the absence of renal and neurological manifestations and a good response to corticosteroid therapy. This observation has not been confirmed by studies that have shown that one-third of MCTD patients have a severe disease and require corticosteroid and immunosuppressive therapy. The major cause of death in these patients is pulmonary hypertension, followed by infections.
A debate is still open on whether MCTD represent a distinct clinical entity or rather an overall between different established connective tissue diseases (CTDs). The answer to this question might become clear as more data on disease pathogenesis will be known.
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Mosca, M., Talarico, R., Bombardieri, S. (2008). Mixed Connective Tissue Disease. In: Shoenfeld, Y., Cervera, R., Gershwin, M.E. (eds) Diagnostic Criteria in Autoimmune Diseases. Humana Press. https://doi.org/10.1007/978-1-60327-285-8_8
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DOI: https://doi.org/10.1007/978-1-60327-285-8_8
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