Autoimmune/Rheumatic

Mixed Connective Tissue Disease (MCTD)

Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that has overlapping features of three other connective tissue diseases: systemic lupus erythematosus (SLE), systemic sclerosis (scleroderma), and polymyositis. Nearly all people with MCTD have high levels of anti-U1 RNP antibodies in their blood.

7

Symptoms

3

Causes

4

Treatments

1

Prevention

Condition Overview

Understand key symptoms, causes, diagnosis options, and treatment pathways for Mixed Connective Tissue Disease (MCTD). This overview is intended for patient awareness and should be followed by specialist consultation.

AutoimmuneRheumaticPrevalence Available

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Symptoms

  • Raynaud's phenomenon (often first symptom)
  • Swollen or puffy hands
  • Arthritis
  • Muscle weakness
  • Esophageal dysmotility
  • Pulmonary hypertension
  • Interstitial lung disease

Causes

  • Autoimmune
  • Genetic susceptibility
  • Presence of anti-U1 RNP antibodies

Diagnosis

  • Blood tests (anti-U1 RNP antibody, ANA)
  • Clinical evaluation of features
  • Organ assessment (lung, heart, kidneys)

Treatment

  • Corticosteroids
  • Immunosuppressants
  • Hydroxychloroquine
  • Vasodilators for Raynaud's and pulmonary hypertension

Risk Factors

  • Female sex
  • Age 15–35
  • HLA-DR4

Prevention

  • No known prevention

Prevalence

Rare; estimated 3.8 per 100,000 population.