Fifteen-year experience of pediatric-onset mixed connective tissue disease

Area of Science:

• Rheumatology
• Pediatric Autoimmune Diseases
• Clinical Manifestations

Background:

• Mixed connective tissue disease (MCTD) is an autoimmune disorder with overlapping features of systemic lupus erythematosus, systemic sclerosis, and polymyositis.
• Pediatric-onset MCTD presents unique challenges in diagnosis and management due to its rarity and variable clinical course.

Purpose of the Study:

• To investigate the initial clinical manifestations, laboratory data, complications, and outcomes of pediatric-onset MCTD patients in Taiwan.
• To identify prognostic factors influencing the disease course and long-term outcomes in this specific population.

Main Methods:

• Retrospective review of medical charts of 12 patients diagnosed with MCTD before age 18 at National Taiwan University Hospital (1993-2008).
• Analysis of initial symptoms, disease progression, treatment response, and organ involvement-free rates at various time points.

Main Results:

• All 12 patients were female, with a mean age of onset at 10.7 years.
• Common initial symptoms included polyarthritis and Raynaud's phenomenon.
• Inflammatory symptoms improved with treatment, but sclerodermatous features (sclerodactyly, esophageal disease, vasculopathy) were persistent and treatment-resistant.
• Organ involvement-free rates at 2, 5, and 10 years were 91.7%, 78.6%, and 52.4%, respectively.

Conclusions:

• Sclerodermatous changes, particularly internal organ involvement, are poor prognostic indicators in Taiwanese pediatric MCTD patients.
• Long-term follow-up and tailored treatment strategies are crucial for improving outcomes in pediatric-onset MCTD.