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This case study highlights a patient with mixed connective tissue disease who developed interstitial lung disease over 14 years, despite no respiratory symptoms. Serial lung function tests revealed a significant decline in diffusing capacity for carbon monoxide.

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Area of Science:

  • Rheumatology
  • Pulmonology
  • Radiology

Background:

  • A 46-year-old woman with mixed connective tissue disease (MCTD) presented for evaluation of interstitial lung disease (ILD).
  • She had clinical features of scleroderma and polymyositis but no respiratory symptoms, cutaneous lesions, or renal disease.
  • Routine laboratory tests were largely normal, except for elevated serum globulin and erythrocyte sedimentation rate, and positive antinuclear, anti-Ro, anti-La, and anti-extractable nuclear antigen antibodies.

Purpose of the Study:

  • To assess the development and progression of interstitial lung disease in a patient with MCTD over a 14-year period.
  • To correlate imaging findings with pulmonary function tests in a long-term follow-up.
  • To investigate the clinical course of ILD in an asymptomatic patient with MCTD.

Main Methods:

  • Longitudinal case study with 14-year follow-up.
  • Serial chest radiography, CT scans, and PET/CT imaging.
  • Regular pulmonary function tests, including diffusing capacity for carbon monoxide (DLCO) and forced vital capacity (FVC).
  • Monitoring of relevant laboratory markers, including autoantibodies.

Main Results:

  • Initial lung function tests were normal (DLCO 95%, FVC 98% predicted).
  • Over 14 years, DLCO decreased significantly to 52% while FVC remained stable (95% predicted), indicating interval development of restrictive lung function.
  • Imaging studies showed no substantial changes, and the patient remained asymptomatic with good exercise tolerance throughout the follow-up.

Conclusions:

  • MCTD patients can develop significant restrictive lung disease, evidenced by declining DLCO, even without respiratory symptoms or overt radiographic changes.
  • Serial pulmonary function testing is crucial for early detection of subclinical lung involvement in MCTD.
  • Long-term monitoring is essential to track the progression of ILD in patients with connective tissue diseases.