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Concept
Mixed connective tissue disease
Summary
Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP) together with a mix of symptoms of systemic lupus erythematosus (SLE), scleroderma, and polymyositis. The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. MCTD was characterized as an individual disease in 1972 by Sharp et al., and the term was introduced by Leroy in 1980.
It is sometimes said to be the same as undifferentiated connective tissue disease, but other experts specifically reject this idea 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.
MCTD combines features of scleroderma, polymyositis, systemic lupus erythematosus, and rheumatoid arthritis (with some sources adding myositis, dermatomyositis, and inclusion body myositis) and is thus considered an overlap syndrome.
The initial clinical manifestations of MCTD usually are unspecific. They can consist of general malaise, arthralgias, myalgias, and fever. The specific signs to suspect this disease is the presence of positive antinuclear antibodies (ANA), specifically anti-RNP, associated with Raynaud's phenomenon. Almost every organ can be affected by MCTD. Raynaud's phenomenon is the most common presenting symptom seen in patients, with arthralgia and swollen hands being the second and third most common respectively. With patients that meet full criteria for MCTD, arthritis is the most common symptom with Raynaud's, swollen hands, leukopenia/lymphopenia, and heartburn following in descending order. A 2016 epidemiological population based study found 3.6 years to be the average amount of time from the first manifestations of the disease until all the criteria for diagnosis were met.
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