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Living with Mixed connective tissue disease

A rare autoimmune condition with features of lupus, scleroderma, and polymyositis, affecting joints, skin, lungs, and other organs.

Understanding Mixed connective tissue disease

Mixed connective tissue disease (MCTD) is a rare autoimmune condition that has features of three other connective tissue conditions: lupus, scleroderma, and polymyositis.

Some people also have symptoms of rheumatoid arthritis. Signs vary but may include Raynaud's phenomenon (fingers that turn white or blue in the cold), arthritis, heart, lung, and skin problems, kidney disease, muscle weakness, and problems with the esophagus. It can begin from childhood to adulthood.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Raynaud's phenomenon
  • Joint pain, swelling, and arthritis
  • Fatigue and fever
  • Muscle aches and inflammation
  • Shortness of breath and chest pain
  • Dry eyes and dry mouth

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists, kidney specialists and lung and breathing specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

  4. Connect with expert centers

    Autoimmune Association, Global Autoimmune Institute and National Scleroderma Foundation may keep lists of experts for this condition.

Care & treatment

Care team
autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists)
Expert care
Expert lists: Autoimmune Association, Global Autoimmune Institute, National Scleroderma Foundation
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Autoimmune Association and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Which tests confirm MCTD and check the lungs, heart, and kidneys?
Which specialists, such as a rheumatologist, should be part of my care team?
How often should my organs be monitored?

Quick facts

Symptoms usually startfrom Childhood to Adulthood

GARD says the cause of MCTD is currently unknown.

RespiratoryNeurologicalKidney

Also known as: connective tissue disease overlap syndrome; mctd; mctd - mixed connective tissue disease; mixed collagen vascular disease; sharp syndrome; sharp's syndrome

Patient organizations

Source: NIH GARD · Mixed connective tissue diseaseGARD ID 7051 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Mixed connective tissue disease.

Explore the Mixed connective tissue disease blog

Explore research for Mixed connective tissue disease

Explore actively recruiting Mixed connective tissue disease studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Mixed connective tissue disease with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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