Mixed Connective Tissue Disease

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Contents 1 Introduction 2 Epidemiology 3 Clinical-manifestations 4 Laboratory 5 Diagnostic-procedures 6 Management 7 More General Terms 8 Additional Terms 9 References

Introduction

• A term proposed in 1972 to describe 20 patients with a combination of clinical manifestations generally associated with systemic lupus erythematosus ( SLE), scleroderma & polymyositis/ dermatomyositis. It is felt by some that MCTD is not a separate entity, but an overlap syndrome of SLE, scleroderma & polymyositis. The original patients diagnosed with MCTD tended to evolve to a single disease entity, generally scleroderma.

Epidemiology

• female > male
• peak onset in 2nd & 3rd decade, can occur at any age
• occurs worldwide & in all races

Clinical-manifestations

• manifestations of SLE, scleroderma & dermatomyositis
• presenting symptoms

• most common:

• Raynaud's phenomenon
• puffy hands
• arthralgias
• myalgias
• fatigue

• less comon

• high fever
• polymyositis, inflammatory myopathy
• arthritis
• neurologic manifestations

• trigeminal neuralgia
• aseptic meningitis

• pulmonary involvement

• often asymptomatic
• pleurisy (common)
• pleural effusions are generally small & resolve spontaneously
• interstitial lung disease
• aspiration pneumonia
• pulmonary hypertension (67%)

• most serious complication
• most common cause of death in MCTD

• renal disease in 25%

• glomerulonephritis (most common)
• nephrotic syndrome

• GI manifestations (70%)

• esophageal dysmotility, gastroesophageal reflux ( GERD)
• bowel manifestations similar to scleroderma

• cardiac manifestations

• pericarditis (30%)
• myocarditis, arrhythmias, mitral valve prolapse

Laboratory

• antinuclear antibodies ( ANA) restricted to:

• anti U1-snRNP
• anti- RNP antibodies (high titer)
• may be referred to as extractable nuclear ribonucleoprotein antigen (ENA)

• anemia of chronic inflammation
• positive direct Coomb's test (60%)

Diagnostic-procedures

• Pulmonary function testing:
• diminished DLCO (67%)
• restrictive pattern (50%)

Management

• good response to low dose oral glucocorticoids
• treatment is the same as for the connective tissue diseases comprising the manifestations of MCTD
• most patients have a favorable course of the disease
• 10 year survival rate is 80%

More General Terms

• overlap syndrome

Additional Terms

• dermatomyositis
• scleroderma (systemic sclerosis)
• systemic lupus erythematosus

References

1. Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 1021
2. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 1895
3. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 789
4. Medical Knowledge Self Assessment Program (MKSAP) 14,15 American College of Physicians, Philadelphia 2006,2009
5. Venables PJ Mixed connective tissue disease. Lupus, 2006 15:132 PMID: [1]

mixed connective tissue disease (MCTD)