MCTD: is it rare in India?

Area of Science:

• Rheumatology
• Immunology
• Internal Medicine

Background:

• Mixed connective tissue disease (MCTD) is a rare autoimmune disorder.
• Limited data exists on MCTD prevalence and characteristics in the Indian population.
• Understanding regional variations is crucial for accurate diagnosis and management.

Purpose of the Study:

• To retrospectively analyze cases of MCTD diagnosed at our institution over a 13-year period.
• To describe the clinical manifestations, diagnostic criteria, and outcomes of Indian MCTD patients.
• To contribute to the limited existing literature on MCTD in India.

Main Methods:

• Retrospective analysis of patient records from the last 13 years.
• Inclusion of patients fulfilling established classification criteria for MCTD (Kasukawa, Sharp's, Alarcon-Sergovia).
• Review of clinical features, laboratory data, and follow-up information.

Main Results:

• Identified 16 cases of MCTD among 441 connective tissue disease patients.
• The majority of patients (15 females) presented with Raynaud's phenomenon, sclerodactyly, puffy fingers, esophageal hypomotility, and pulmonary disease.
• At a median follow-up of 12 months, 12 patients developed limited scleroderma features, and three developed pulmonary hypertension.

Conclusions:

• This study highlights the clinical profile of MCTD in an Indian cohort.
• The observed manifestations align with international findings, emphasizing the importance of early diagnosis.
• Long-term follow-up revealed a significant progression towards limited scleroderma and pulmonary hypertension in this cohort.