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Mixed connective tissue disease commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of high blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP). 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. It was characterized in 1972,[2] and the term was introduced by Leroy[3] in 1980.[4]

Mixed connective tissue disease
Other namesSharp's syndrome[1]
SpecialtyImmunology, rheumatology Edit this on Wikidata
Differential diagnosisCPT2.

It is sometimes said to be the same as undifferentiated connective tissue disease,[1] but other experts specifically reject this idea[5] 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.[5]

Signs and symptomsEdit

Differential diagnosis CPT2 MCTD combines features of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid arthritis[6] (with some sources adding polymyositis, dermatomyositis, and inclusion body myositis)[7] and is thus considered an overlap syndrome.

MCTD commonly causes:


It has been associated with HLA-DR4.[8]


Distinguishing laboratory characteristics are a positive, speckled anti-nuclear antibody and an anti-U1-RNP antibody.[9][10]



The prognosis of mixed connective tissue disease is in one third of cases worse than that of systemic lupus erythematosus (SLE). In spite of prednisone treatment, this disease is progressive and may in many cases evolve into a progressive systemic sclerosis (PSS), also referred to as diffuse cutaneous systemic scleroderma (dcSSc) which has a poor outcome. In some cases though the disease is mild and may only need aspirin as a treatment and may go into remission where no Anti-U1-RNP antibodies are detected, but that is rare or within 30% of cases.[citation needed] Most deaths from MCTD are due to heart failure caused by pulmonary arterial hypertension (PAH).

See alsoEdit


  1. ^ a b Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. ^ 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.
  3. ^ 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.
  4. ^ LeRoy EC, Maricq HR, Kahaleh MB (March 1980). "Undifferentiated connective tissue syndromes". Arthritis and Rheumatism. 23 (3): 341–3. doi:10.1002/art.1780230312. PMID 7362686.
  5. ^ a b Hoffman 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.
  6. ^ "Mixed Connective Tissue Disease, MCTD". The Free Dictionary by Farlex.
  7. ^ Nevares AM, Larner R. "Mixed Connective Tissue Disease (MCTD): Autoimmune Disorders of Connective Tissue". Merck Manual Home Health Handbook.
  8. ^ Aringer M, Steiner G, Smolen JS (August 2005). "Does mixed connective tissue disease exist? Yes". Rheumatic Diseases Clinics of North America. 31 (3): 411–20, v. doi:10.1016/j.rdc.2005.04.007. PMID 16084315.
  9. ^ Venables PJ (2006). "Mixed connective tissue disease". Lupus. 15 (3): 132–7. doi:10.1191/0961203306lu2283rr. PMID 16634365.
  10. ^ Sato T, Fujii T, Yokoyama T, Fujita Y, Imura Y, Yukawa N, Kawabata D, Nojima T, Ohmura K, Usui T, Mimori T (December 2010). "Anti-U1 RNP antibodies in cerebrospinal fluid are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease". Arthritis and Rheumatism. 62 (12): 3730–40. doi:10.1002/art.27700. PMID 20722023.

Further readingEdit

External linksEdit