Mixed Connective Tissue Disease (MCTD)

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

  • Medical Editor: Catherine Burt Driver, MD
    Catherine Burt Driver, MD

    Catherine Burt Driver, MD

    Catherine Burt Driver, MD, is board certified in internal medicine and rheumatology by the American Board of Internal Medicine. Dr. Driver is a member of the American College of Rheumatology. She currently is in active practice in the field of rheumatology in Mission Viejo, Calif., where she is a partner in Mission Internal Medical Group.

Symptoms of Rheumatoid Arthritis

What are signs and symptoms of mixed connective tissue disease?

The signs and symptoms of mixed connective tissue disease vary greatly from one individual affected to another. If polymyositis is the dominant feature, muscle weakness is prominent. If systemic lupus erythematosus prevails, there may be chest pain with breathing, kidney disease, and/or arthritis of the joints. If scleroderma symptoms dominate, there can be diffuse swelling and thickening of the fingers and feet with bluish discoloration of the fingers after cold exposure (Raynaud's phenomenon).

What types of doctors treat mixed connective tissue disease?

Doctors who treat patients with mixed connective tissue disease include primary-care providers such as general practitioners, internists, and family medicine doctors. Other specialists who can be involved in the care for these patients include neurologists, cardiologists, pulmonologists, and nephrologists. Specialists with a particular interest in mixed connective tissue disease are rheumatologists.

How do doctors diagnose mixed connective tissue disease?

Today, true mixed connective tissue disease is diagnosed when patients demonstrate the clinical features (exam findings) of overlap illnesses (as described above) and have high amounts of the antibodies ANA and anti-RNP in their blood. Mixed connective tissue disease patients do not typically have antibodies such as dsDNA and Scl70, which are particularly common in systemic lupus erythematosus and scleroderma respectively.

Medically Reviewed by a Doctor on 8/5/2016

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