Advertisement

Mixed Connective Tissue Disease

  • Robert W. Hoffman

Abstract

Mixed connective tissue disease (MCTD) is often viewed as a “cousin” of systemic lupus erythematosus (SLE), with which it shares many disease features. Some experts regard MCTD as a variant of SLE because of the considerable overlap in clinical and serological manifestations. Others consider it to be a unique disorder because of the frequency with which certain phenotypic features occur in patients classified as MCTD. Patients with MCTD by definition have antibodies directed against ribonuceoprotein, i.e., anti-RNP antibodies. Common clinical manifestations of MCTD are arthritis, Raynaud's phenomenon, digital ischemia progressing to fingertip ulceration, pulmonary hypertension, interstitial lung disease, and gastrointestinal hypomotility. Some patients with MCTD evolve with time to a clinical phenotype that is more easily classified as SLE. Others, perhaps a majority, evolve over time to clinical syndromes most compatible with systemic sclerosis. MCTD must be distinguished from “undifferentiated” connective tissue diseases (in which a clear-cut rheumatological process may or may not emerge with time) and also from “overlap” connective tissue diseases, in which the disease features of two or more well-defined connective tissues diseases are present in the same patient. As example of an overlap connective tissue disease is the occurrence of SLE and polymyositis in the same patient. Such a patient would not be regarded as a “mixed” connective tissue disease (MCTD), but rather as the cooccurrence of two diseases in the same patient.

Keywords

Systemic Lupus Erythematosus Pulmonary Hypertension Interstitial Lung Disease Systemic Sclerosis Connective Tissue Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Arbuckle MR, McClain MT, Rubertone MV, et al Development of autoantibodies before the clinical onset of systemic lupus erythe-matosus. N Engl J Med 2003; 349:1526–1533PubMedCrossRefGoogle Scholar
  2. Burdt MA, Hoffman RW, Deutscher SL, et al Long-term outcome in mixed connective tissue disease: Longitudinal clinical and serologic findings. Arthritis Rheum 1999; 42:899–909PubMedCrossRefGoogle Scholar
  3. Farrell DA, Medsger TA Jr. Trigeminal neuropathy in progressive systemic sclerosis. Am J Med 1982; 73:57–62PubMedCrossRefGoogle Scholar
  4. Kotajima L, Aotsuka S, Sumiya M, et al Clinical features of patients with juvenile onset mixed connective tissue disease: Analysis of data collected in a nationwide collaborative study in Japan. J Rheumatol 1999; 23:1088–1094Google Scholar
  5. Michels H. Course of mixed connective tissue disease in children. Ann Med 1997; 29:359–364PubMedCrossRefGoogle Scholar
  6. Mosca M, Neri R, Bombardieri S. Undifferentiated connective tissue diseases (UCTD): A review of the literature and a proposal for preliminary classification criteria. Clin Exp Rheumatol 1999; 17: 615–620PubMedGoogle Scholar
  7. Nimelstein SH, Brody S, McShane D, Holman HR. Mixed connective tissue disease: A subsequent evaluation of the original 25 patients. Medicine 1980; 59:239–248PubMedCrossRefGoogle Scholar
  8. Sharp GC, Irvin WS, Tan EM, et al Mixed connective tissue disease: An apparently distinct rheumatic disease syndrome associated with a specific antibody to extractable nuclear antigen (ENA). Am J Med 1972; 52:148–159PubMedCrossRefGoogle Scholar
  9. Singsen BH, Kornreich HK, Koster-King K, et al Mixed connective tissue disease in children. Arthritis Rheum 1977; 20(2 Suppl): 355–360PubMedGoogle Scholar
  10. Treadwell EL, Alspaugh MA, Wolfe JF, Sharp GC. Clinical relevance of PM-1 antibody and physiochemical characterization of PM-1 antigen. J Rheumatol 1984; 11(5):658–662PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Robert W. Hoffman
    • 1
  1. 1.Chief Division of Rheumatology and ImmunologyUniversity of Miami Miller School of MedicineMiamiUSA

Personalised recommendations