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Mixed connective tissue disease — SCE Rheumatology MCQ

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HardConnective tissue diseasesMixed connective tissue diseaseSCE Rheumatology

A 32-year-old woman has Raynaud's phenomenon, swollen hands, inflammatory polyarthritis and reflux. ANA is speckled, anti-U1 RNP is strongly positive, CK is mildly raised and anti-centromere, anti-Scl-70 and anti-dsDNA are negative. What is the most likely diagnosis?

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Correct answer: E — Mixed connective tissue disease

High-titre anti-U1 RNP with overlapping features of SLE, systemic sclerosis and myositis supports mixed connective tissue disease. Limited systemic sclerosis would more often be associated with anticentromere antibody and a different phenotype. The condition requires screening for pulmonary hypertension and ILD depending on manifestations.

Reference: EULAR connective tissue disease recommendations; BSR rheumatology curriculum