Mixed connective tissue disease--clinical and immunological profile

To study the clinical and immunological profile of mixed connective tissue disease (MCTD) in rheumatic disease population.

We retrospectively analyzed 6400 cases of rheumatic disease population who took treatment in the Department of Rheumatology, Madras Medical College, Chennai during the period of 1996 to 1999, in which eight cases fulfilled the preliminary diagnostic criteria of mixed connective tissue disease devised by Kasukawa et al. All eight cases were studied in detail.

All cases were females between 23 to 50 years of age. Polyarthritis, Raynaud's phenomenon and sclerodactyly were present in all eight patients. Oesophageal abnormalities, pulmonary changes and myositis were present in six patients. Facial erythema was observed in five patients. Alopecia and oral ulcers were seen in four patients. Two patients had pulmonary hypertension and migraine like headache. One patient had diffuse proliferative glomerulonephritis as an interesting feature by renal biopsy. Pleuritis, pericarditis and trigeminal neuropathy with lower cranial nerve palsies were present in one case each. Immunological tests showed presence of antinuclear antibodies and anti U1 ribonucleoprotein (anti U1RNP) antibodies in all eight patients.

Mixed connective tissue disease should be considered as an important syndrome in any patient who presents with heterogeneous clinical presentation and who do not fit into any definite criteria of systemic connective tissue disorders.