Mixed Connective-Tissue Disease Clinical Presentation

Updated: Sep 29, 2017
  • Author: Eric L Greidinger, MD; Chief Editor: Herbert S Diamond, MD  more...
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Presentation

History

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)
Raynaud phenomenon is a common feature of mixed co Raynaud phenomenon is a common feature of mixed connective tissue disease.

The experience with a large single-center cohort of MCTD patients suggests that the following three clinical subclusters of MCTD manifestations may exist [19] :

  • Predominantly vascular manifestations, including Raynaud phenomenon, pulmonary hypertension, and antiphospholipid syndrome with thromboses (who are at the greatest risk of mortality)
  • A polymyositislike picture, including interstitial lung disease, esophageal dysmotility, and myositis
  • Erosive polyarthritis with anti–cyclic citrullinated peptide (anti-CCP) antibodies and sclerodactyly
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Physical

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 [20]
  • 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

Protein-losing gastroenteropathy is a rare feature of MCTD, but may be the initial manifestation of the disorder. Patients present with generalized edema, ascites, and pleural and pericardial effusions due to to hypoproteinemia from leakage of serum protein into the gastrointestinal tract. [21]

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