Mixed connective tissue disease

Mixed connective tissue disease
Mixed Connective Tissue Disease (MCTD) Awareness Ribbon
Classification and external resources
Specialty rheumatology
ICD-10 M35.1
ICD-9-CM 710.8
DiseasesDB 8312
eMedicine med/3417
Patient UK Mixed connective tissue disease
MeSH D008947

In medicine, mixed connective tissue disease (also known as Sharp's syndrome),[1] commonly abbreviated as MCTD, is an autoimmune disease in which the body's defense system attacks itself. It was characterized in 1972,[2] and the term was introduced by Leroy[3] in 1980.[4]

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 symptoms

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:

Diagnosis

Distinguishing laboratory characteristics are a positive, speckled anti-nuclear antibody and an anti-U1-RNP antibody.[8][9]

Cause

It has been associated with HLA-DR4.[10]

Prognosis

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.

Most deaths from MCTD are due to heart failure caused by Pulmonary Arterial Hypertension (PAH).

See also

References

  1. 1 2 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
  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)". Am. J. Med. 52 (2): 148–59. doi:10.1016/0002-9343(72)90064-2. PMID 4621694.
  3. ↑ George C. Tsokos; Caroline Gordon; Josef S. Smolen (2007). Systemic lupus erythematosus: a companion to Rheumatology. Elsevier Health Sciences. pp. 429–. ISBN 978-0-323-04434-9. Retrieved 26 June 2010.
  4. ↑ LeRoy EC, Maricq HR, Kahaleh MB (March 1980). "Undifferentiated connective tissue syndromes". Arthritis Rheum. 23 (3): 341–3. doi:10.1002/art.1780230312. PMID 7362686.
  5. 1 2 John Stone (1 June 2009). Pearls & Myths in Rheumatology. Springer. pp. 169–. ISBN 978-1-84800-933-2. Retrieved 26 June 2010.
  6. ↑ "mixed connective tissue disease" at Dorland's Medical Dictionary
  7. ↑ "Mixed Connective Tissue Disease (MCTD): Autoimmune Disorders of Connective Tissue: Merck Manual Home Health Handbook".
  8. ↑ Venables PJ (2006). "Mixed connective tissue disease". Lupus. 15 (3): 132–7. doi:10.1191/0961203306lu2283rr. PMID 16634365.
  9. ↑ Sato, T; Fujii, T; Yokoyama, T; Fujita, Y; Imura, Y; Yukawa, N; Kawabata, D; Nojima, T; Ohmura, K; Usui, T; Mimori, T (Dec 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.
  10. ↑ Aringer M, Steiner G, Smolen JS (August 2005). "Does mixed connective tissue disease exist? Yes". Rheum. Dis. Clin. North Am. 31 (3): 411–20, v. doi:10.1016/j.rdc.2005.04.007. PMID 16084315.
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