What is Mixed Connective Tissue Disease?

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  • Written By: D. Jeffress
  • Edited By: Jenn Walker
  • Last Modified Date: 18 October 2019
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Mixed connective tissue disease is a rare condition that has the combined characteristics of three other disorders: scleroderma, polymyositis, and lupus. A person with the condition is subject to a number of health problems, including rheumatoid arthritis, muscle spasms, and constant fatigue. The exact causes of mixed connective tissue disease are not well-understood, but doctors believe genetic mutations that affect the production of white blood cells play a major role in its development. The condition cannot be cured, but symptoms can be usually be managed with prescription oral medications and healthy dietary choices.

Medical research has linked mixed connective tissue disease with abnormal activity of specialized white blood cells called lymphocytes. Normally, the immune system releases lymphocytes to help fight off foreign bacteria and viruses. In the case of autoimmune disorders like mixed connective tissue disease, lymphocytes mistakenly attack healthy body tissue instead.


Mixed connective tissue disease can affect people of any age, though it is most prominent in females between the ages of 15 and 25. Since it is essentially a combination of three diseases, an individual can experience a wide range of symptoms. Most people with the condition experience some degree of joint pain and inflammation, swelling in the extremities, fever, and high blood pressure. Some individuals suffer from chronic skin rashes, muscle weakness, and fatigue during physical activity. A particularly noticeable condition called Raynaud's phenomenon is common, in which disrupted blood flow causes the fingers and toes to become discolored, numb, and cold.

An individual who experiences symptoms of mixed connective tissue disease should visit his or her doctor immediately to obtain a proper diagnosis. The physician can conduct a careful physical examination, collect blood for laboratory testing, and take x-rays to check for abnormalities. Blood tests that reveal abnormally large quantities of lymphocytes and antibodies in the bloodstream are highly indicative of mixed connective tissue disease.

Once an accurate diagnosis has been made, a team of specialists can decide on the most appropriate course of treatment. The goal of treatment is to lessen chronic symptoms and prevent episodes of intense pain and joint swelling. A patient may be prescribed corticosteroids or other anti-inflammatory drugs to lessen swelling and ease the pain associated with arthritis. Blood pressure stabilizers are needed if a patient is at risk of heart complications. In addition, individuals are generally instructed to maintain healthy diets and engage in light, regular activity to promote healthy immune system functioning.


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