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 is mixed connective tissue disease?

Mixed connective tissue disease, as first described in 1972, is "classically" considered as an "overlap" of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis. Patients with this pattern illness have features of each of these three diseases. They also typically have very high quantities of antinuclear antibodies (ANAs) and antibodies to ribonucleoprotein (anti-RNP) detectable in their blood. The symptoms of many of these patients eventually evolve to become dominated by features of one of three component illnesses, most commonly scleroderma. Mixed connective tissue disease is often abbreviated MCTD.

It is now known that overlap syndromes can occur that involve any combination of the connective tissue diseases. Therefore, for example, patients can have a combination of rheumatoid arthritis and systemic lupus erythematosus (hence, the coined name "rhupus").

What are causes and risk factors for mixed connective tissue disease?

The most significant causes and risk factors for developing mixed connective tissue disease are certain gene patterns that are inherited from ancestors. There is no known environmental toxin that has been shown to cause mixed connective tissue disease.

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).

Medically Reviewed by a Doctor on 2/18/2015

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