Updated: 10/17/2017

Mixed Connective Tissue Disease

Review Topic
  • A 31-year-old woman presents to her primary care physician's office with general malaise, myalgias, and low-grade fever. She notices that during the winter months the tips of her fingers turn blue and then returns to her baseline color when in a warm environment. On physical exam, there is a malar rash, sclerodactyly, and joint tenderness. Laboratory testing is positive for anti-nuclear antibodies (ANA) and anti-U1 RNP antibodies.
  • Clinical definition
    • generalized connective tissue disorder with clinical features of systemic lupus erythematosus, systemic sclerodermia, and polymyositis
      • along with high levels of anti-U1-RNP antibodies
  • Epidemiology
    • demographics
      • more common in women
      • 15-25 years of age but can occur at any age
  • Pathogenesis
    • autoimmune process
  • Prognosis
    • generally a favorable outcome
  • Symptoms
    • Raynaud phenomenon
    • arthralgia
    • arthritis
    • myositis
    • sclerodactyly
    • hand swelling
  • Echocardiography
    • indication
      • for early diagnosis of pulmonary arterial hypertension and for the evaluation of valvular disease
  • Labs
    • positive for anti-U1-RNP antibodies
  • Diagnostic criteria
    • clinical diagnosis supported by anti-U1-RNP antibodies on serology
  • Systemic lupus erythematosus (SLE)
  • Scleroderma
  • Polymyositis
  • Rheumatoid arthritis
  • Idiopathic pulmonary arterial hypertension
  • Management approach
    • treatment is aimed at controlling symptoms and is targeted to organ involvement
  • Medical
    • prednisone
      • indications
        • responsive in patients presenting with symptoms consistent with SLE
        • in patients with fatigue, myositis, myalgias, arthralgias, pleuritis, pericarditis, autoimmune anemia, and thrombocytopenia
    • calcium channel blockers
      • indications
        • pulmonary arterial hypertension
        • Raynaud phenomenon
  • The major cause of death is pulmonary hypertension in MCTD

Please rate topic.

Average 5.0 of 3 Ratings

Thank you for rating! Please vote below and help us build the most advanced adaptive learning platform in medicine

The complexity of this topic is appropriate for?
How important is this topic for board examinations?
How important is this topic for clinical practice?
Topic COMMENTS (0)
Private Note