Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP), together with a mix of symptoms of systemic lupus erythematosus (SLE), scleroderma, and polymyositis.[2] The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. MCTD was characterized as an individual disease in 1972 by Sharp et al.,[3][4] and the term was introduced by Leroy[5] in 1980.[6]
It is sometimes said to be the same as undifferentiated connective tissue disease,[1] but other experts specifically reject this idea[7] because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP, and MCTD is associated with a more clearly defined set of signs/symptoms.[7]
^ abRapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
^Bennett, Robert (2014). "Clinical manifestations of mixed connective tissue disease". www.uptodate.com. Retrieved 2019-10-12.
^Ungprasert, Patompong; Crowson, Cynthia S.; Chowdhary, Vaidehi R.; Ernste, Floranne C.; Moder, Kevin G.; Matteson, Eric L. (December 2016). "Epidemiology of Mixed Connective Tissue Disease 1985-2014: A Population Based Study". Arthritis Care & Research. 68 (12): 1843–1848. doi:10.1002/acr.22872. ISSN 2151-464X. PMC 5426802. PMID 26946215.
^Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR (February 1972). "Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA)". The American Journal of Medicine. 52 (2): 148–59. doi:10.1016/0002-9343(72)90064-2. PMID 4621694.
^Tsokos GC, Gordon C, Smolen JS (2007). Systemic lupus erythematosus: a companion to Rheumatology. Elsevier Health Sciences. pp. 429–. ISBN 978-0-323-04434-9.
^ abHoffman RW (1 June 2009). "Mixed Connective Disease". In Stone J (ed.). Pearls & Myths in Rheumatology. Springer. pp. 169–172. ISBN 978-1-84800-933-2. Retrieved 26 June 2010.
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