Mixed connective tissue disease (MCTD)
1. Big picture
Mixed connective tissue disease (MCTD) is an overlap systemic autoimmune disease. It combines clinical features of:
- Systemic lupus erythematosus (SLE)
- Systemic sclerosis
- Polymyositis/dermatomyositis
- Rheumatoid arthritis-like inflammatory arthritis
The key exam phrase is:
Raynaud phenomenon + swollen/puffy hands + overlap autoimmune features + high-titer anti-U1-RNP antibody = MCTD.
The most important long-term complications are pulmonary arterial hypertension (PAH) and interstitial lung disease (ILD). MCTD is classically associated with anti-U1-ribonucleoprotein (anti-U1-RNP) antibodies and overlapping features of at least two
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