Mixed connective tissue disease: what is behind the curtain?

Abstract

Although there is still an emotional debate over the existence of mixed connective tissue disease, the evidence from animal models suggests that anti-U1RNP antibodies, similar to other autoantibodies in other connective tissue diseases (such as antisynthetase, anticentromere, and antitopoisomerase), play a pathophysiological role in this disease. Despite an antiendothelial effect of anti-U1RNP antibodies, which is reminiscent of anticentromere antibodies, patients with high-titer autoantibodies to U1RNP in the absence of anti-Sm antibodies do not usually have or develop typical systemic sclerosis. Instead, their severe Raynaud's syndrome is commonly accompanied by arthritis, which can be erosive, and by swollen/puffy hands and myositis. Pulmonary arterial hypertension is the major life-threatening complication in these patients and regular screening for this condition is essential.

• Authors: Martin Aringer, Josef S Smolen
• Journal: Best practice & research. Clinical rheumatology (Best Pract Res Clin Rheumatol) Vol. 21 Issue 6 Pg. 1037-49 (Dec 2007) ISSN: 1521-6942 [Print] Netherlands
• PMID: 18068860 (Publication Type: Journal Article, Review)

Topics

• Autoimmunity (immunology)
• Diagnosis, Differential
• Humans
• Immunity, Cellular (immunology)
• Mixed Connective Tissue Disease (classification, diagnosis, immunology)