John et al reported clinical features of Mixed Connective Tissue Disease (MCTD). The authors are from Christian Medical College.
Clinical features may include:
(1) fever at presentation
(2) arthritis/synovitis
(3) myositis
(4) pulmonary artery hypertension (PAH)
(5) interstitial lung disease (ILD)
(6) Raynaud's phenomenon, sometimes with digital gangrene
(7) malar rash
(8) mucosal ulcerations
(9) sclerodactyly
(10) esophageal dysmotility
(11) fatigue
(12) swollen fingers
(13) alopecia
(14) pericarditis and/or pleuritis
(15) trigeminal neuropathy
(16) membranous glomerulonephritis
(17) autoimmune hepatitis
Laboratory findings:
(1) high titer of anti-U1 RNP
(2) positive ANA in most patients, often with a speckled pattern
(3) positive Direct coombs test may be present
(4) some patients may have other antibodies: rheumatoid factor, anti-ds DNA, anti-Ro/SSA, anti-La/SSB, anti-Jo-1,anti-Scl-70, anti-Smith
(5) autoimmune hemolytic anemia or immune thrombocytopenia
(6) lupus anticoagulant
Differential diagnosis:
(1) clinical features overlap with SLE, scleroderma and polymyositis
(2) the presence of deforming arthritis and a positive rheumatoid factor may be confused with rheumatoid arthritis.
