Which clinical history findings are characteristic of mixed connective-tissue disorder (MCTD)?

Updated: Nov 25, 2020
  • Author: Eric L Greidinger, MD; Chief Editor: Herbert S Diamond, MD  more...
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Answer

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 [23] :

  • 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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