Mixed connective tissue disease: an overview of clinical manifestations, diagnosis and treatment

Best Pract Res Clin Rheumatol. 2012 Feb;26(1):61-72. doi: 10.1016/j.berh.2012.01.009.


The most common clinical manifestations of mixed connective disease are Raynaud's phenomenon, arthralgias, swollen joints, esophageal dysfunction, muscle weakness and fingers sausage-like appearance together with the presence of anti-ribonucleoprotein (RNP) antibodies. However, organ involvement is more extensive than first descriptions reported. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal and central nervous system manifestations. The worst prognosis and high mortality are associated with the presence of pulmonary disease. Although a different set of clinical criteria have been proposed, there is no consensus about the most accurate. There is no full agreement about treatment and the initial impression of a satisfactory response to low doses of steroids is not always the rule. Herein, we review available evidence to a better approach to all previous topics.

Publication types

  • Review

MeSH terms

  • Antibodies, Antinuclear / immunology
  • Humans
  • Mixed Connective Tissue Disease* / diagnosis
  • Mixed Connective Tissue Disease* / immunology
  • Mixed Connective Tissue Disease* / therapy


  • Antibodies, Antinuclear