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Updated: Apr 22 2019

Mixed Connective Tissue Disease

  • Snapshot
    • 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.
  • Introduction
    • 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
  • Presentation
    • Symptoms
      • Raynaud phenomenon
      • arthralgia
      • arthritis
      • myositis
      • sclerodactyly
      • hand swelling
  • Imaging
    • Echocardiography
      • indication
        • for early diagnosis of pulmonary arterial hypertension and for the evaluation of valvular disease
  • Studies
    • Labs
      • positive for anti-U1-RNP antibodies
    • Diagnostic criteria
      • clinical diagnosis supported by anti-U1-RNP antibodies on serology
  • Differential
    • Systemic lupus erythematosus (SLE)
    • Scleroderma
    • Polymyositis
    • Rheumatoid arthritis
    • Idiopathic pulmonary arterial hypertension
  • Treatment
    • 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
  • Complications
    • The major cause of death is pulmonary hypertension in MCTD
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