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Mixed Connective Tissue Disease (MCTD)

An overlap syndrome combining features of SLE, scleroderma, and polymyositis.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Mixed Connective Tissue Disease (MCTD)?

Mixed connective tissue disease (MCTD) is an overlap syndrome with high-titer positivity of anti-U1-RNP autoantibody and overlapping features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. It was first described by Sharp in 1972.

The disease usually starts in women in their 30s and 40s. Raynaud's phenomenon, swollen fingers, arthritis, myositis, esophageal dysmotility, and pulmonary hypertension are typical findings. Renal involvement is rarer and milder than in SLE.

Pulmonary hypertension is the leading cause of long-term morbidity and mortality. Diagnosis is based on clinical findings and anti-U1-RNP positivity; treatment is individualized according to the dominant clinical picture.

Symptoms

Raynaud's phenomenon (early and frequent finding)
Swelling in the hands and fingers (sausage finger)
Arthralgia and non-erosive arthritis
Proximal muscle weakness
Difficulty swallowing and reflux
Shortness of breath and exercise intolerance
Malar rash and photosensitivity
Fatigue and low-grade fever

Risk Factors

Female sex (9:1 ratio)
Age between 30 and 40
Family history of autoimmune disease
HLA-DR4 positivity
Environmental triggers (viral infections)
UV light exposure
Silica and organic solvent exposure
Estrogen exposure

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • New-onset Raynaud's phenomenon and swollen fingers
  • Unexplained muscle weakness and joint pain
  • Shortness of breath and reduced exercise capacity
  • Difficulty swallowing
  • Resistant fatigue and fever
  • Skin rashes and ulcers

Treatment Methods

01
NSAIDs for mild arthralgia and serositis
02
Hydroxychloroquine as a basic treatment
03
Low-to-moderate dose glucocorticoids
04
Immunosuppressants (methotrexate, azathioprine, mycophenolate)
05
Calcium channel blockers for Raynaud's
06
Specific vasodilator therapy for pulmonary hypertension
07
High-dose steroids in case of myositis involvement
08
Regular pulmonary hypertension screening with echocardiography

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.