Mixed Connective Tissue Disease

Mixed connective tissue disease (MCTD) is a relatively rare syndrome with clinical features that overlap with systemic sclerosis, systemic lupus erythematosus, idiopathic inflammatory myopathies, and rheumatoid arthritis (Chapter 1). The typical clinical features are Raynaud's phenomenon, polyarthritis, myalgias, swelling of the hands, and esophageal dysfunction. Unlike systemic sclerosis, patients with MCTD may respond to corticosteroids. The primary clinical esophageal symptoms are heartburn and regurgitation, occurring in 24% to 48% of patients (16). Oropharyngeal dysphagia and/or esophageal dysphagia are common symptoms. Barium esophagram studies show findings similar to those in systemic sclerosis, mainly diminished esophageal peristalsis, and a dilated esophagus. Modified barium swallow studies may show oropharyngeal dysfunction similar to that seen in patients with polymyositis. Manometry is similar to systemic sclerosis; however, the LES pressures are usually not as diminished.

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