Esophageal involvement in mixed connective tissue disease

Area of Science:

• Gastroenterology
• Rheumatology
• Internal Medicine

Background:

• Mixed connective tissue disease (MCTD) is an autoimmune disorder with overlapping features of other connective tissue diseases.
• Esophageal involvement is a known complication of systemic sclerosis, but its presentation in MCTD requires further characterization.

Purpose of the Study:

• To investigate the prevalence and characteristics of esophageal symptoms and functional abnormalities in patients with MCTD.
• To compare esophageal involvement in MCTD with that observed in systemic sclerosis.
• To assess the utility of esophageal manometry as a diagnostic aid for MCTD.

Main Methods:

• Esophageal manometry was performed on 21 patients diagnosed with MCTD.
• Patient data on esophageal symptoms and cutaneous involvement were collected and analyzed.
• Findings were compared to a cohort of 38 patients with systemic sclerosis.

Main Results:

• Esophageal involvement was detected in 85% of MCTD patients, with 66% experiencing symptoms and 71% showing manometric abnormalities.
• The manometric pattern in MCTD included reduced peristaltic amplitude, poor coordination, and decreased lower esophageal sphincter (LES) competency.
• While similar to systemic sclerosis, esophageal involvement in MCTD was generally less severe, and no correlation was found between manometric abnormalities and cutaneous manifestations.

Conclusions:

• Esophageal dysfunction is highly prevalent in MCTD and presents with characteristic manometric findings.
• Esophageal manometry can serve as a valuable diagnostic tool for suspected MCTD, particularly when scleroderma-like features are absent.
• The findings suggest that esophageal disorders in MCTD may not always correlate with clinically apparent skin involvement.