Mixed connective tissue disease

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Mixed connective tissue disease

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor: Cafer Zorkun, M.D., Ph.D. [2], Jesus Rosario Hernandez, M.D. [3]

Synonyms and keywords: MCTD; mixed connective tissue disorder; Sharp's syndrome

Overview

Mixed connective tissue disease (MCTD) or Sharp's syndrome is a human autoimmune disease in which the immune system attacks the body. MCTD combines features of polymyositis, systemic lupus erythematosus, and systemic scleroderma and is thus considered an overlap syndrome. MCTD commonly causes joint pain/swelling, Raynaud phenomenon, muscle inflammation, and scarring of the skin of the hand. It does not typically cause kidney disease or seizures. Distinguishing laboratory characteristics are a positive, speckled anti-nuclear antibody and an anti-U1-RNP antibody.[1]

Pathophysiology

There are no specific histologic findings that aid in the diagnosis of Mixed Connective Tissue Disorder as a separate autoimmune disease. For example, nephritis in MCTD is usually indistinguishable from lupus nephritis.

Diagnosis

It is characterized by -

Mixed Connective Tissue Disorder Findings

A. Systemic lupus erythematosus–like findings

B. Progressive Systemic Sclerosis –like findings

  • Sclerodactyly
  • Pulmonary fibrosis, restrictive changes of the lung (forced vital capacity <80% of predicted), or reduced carbon monoxide diffusing capacity (<70% of predicted)
  • Hypomotility or dilatation of esophagus

C. Polymyositis-like findings

  • Muscle weakness
  • Elevated serum level of muscle enzymes (creatine kinase)
  • Myogenic pattern on electromyogram

MCTD is characterized by anti–U1 small nuclear RNP positivity.

Cardiac Involvement in MCTD

Cardiovascular abnormalities associated with mixed connective tissue disease are rare. Presence of any of the complications listed below indicates unfavorable prognosis;

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References

  1. Venables PJ. Mixed connective tissue disease. Lupus. 2006;15(3):132-7. PMID 1663436
  2. Jang J J, Olin J W, Fuster V. A teenager with mixed connective tissue disease presenting with an acute coronary syndrome. Vascular Medicine; 2004, Vol. 9 Issue 1, 31-34
  3. 3.0 3.1 3.2 {{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=294>

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