Mixed Connective-Tissue Disease Clinical Presentation
- Author: Eric L Greidinger, MD; Chief Editor: Herbert S Diamond, MD more...
Manifestations of mixed connective-tissue disease (MCTD) can be protean. Most patients experience Raynaud phenomenon, arthralgia/arthritis, swollen hands, sclerodactyly or acrosclerosis, and mild myositis. The following may be revealed by history or physical examination:
- Raynaud phenomenon (96% cumulatively, 74% at presentation); see the image below
- Arthralgia/arthritis (96% cumulatively, 68% at presentation)
- Esophageal hypomotility (66% cumulatively, 9% at presentation)
- Pulmonary dysfunction (66% cumulatively, rare at presentation)
- Swollen hands (66% cumulatively, 45% at presentation)
- Myositis (51% cumulatively, 2% at presentation)
- Rash (53% cumulatively, 13% at presentation)
- Leukopenia (53% cumulatively, 9% at presentation)
- Sclerodactyly (49% cumulatively, 11% at presentation)
- Pleuritis/pericarditis (43% cumulatively, 19% at presentation)
- Pulmonary hypertension (23% cumulatively, rare at presentation)
The experience with a large single-center cohort of MCTD patients suggests that the following three clinical subclusters of MCTD manifestations may exist :
- Patients with predominantly vascular manifestations, including Raynaud phenomenon, pulmonary hypertension, and antiphospholipid syndrome with thromboses (who are at the greatest risk of mortality)
- Patients with a polymyositislike picture, including interstitial lung disease, esophageal dysmotility, and myositis
- Patients with erosive polyarthritis with anti–cyclic citrullinated peptide (anti-CCP) antibodies and sclerodactyly
Physical examination is helpful in confirming or identifying features of MCTD. Seek the following features on examination:
- Fever should prompt a careful search for infection; however, infection may be present in the absence of fever and is one of the primary disease-related causes of mortality and/or morbidity in MCTD; the use of corticosteroids and immunosuppressive agents further increases the risk of infection
- Corticosteroids may mask serious intra-abdominal processes, including appendicitis, vasculitis, pancreatitis, and bowel perforation
- Cardiopulmonary symptoms or findings should prompt a careful evaluation for pulmonary hypertension
- Capillary microscopy can assist in finding sclerodermatous-type nailfold changes
- Severe Raynaud phenomenon may result in digital vascular infarcts and ulcerations
- Pericarditis may be occult and can progress rapidly to cardiac tamponade
- Trigeminal neuralgia is common in MCTD
- Secondary Sjögren syndrome occurs in 25% of patients with MCTD and may cause both ocular symptoms and oral dryness
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