Mixed connective tissue disease

Mixed connective tissue disease features signs and symptoms of a combination of disorders — primarily of lupus, scleroderma and polymyositis. For this reason, mixed connective tissue disease is sometimes referred to as an overlap disease.

In mixed connective tissue disease, the symptoms of the separate diseases usually don't appear all at once. Instead, they tend to occur in sequence over a number of years, which can make diagnosis more complicated.

Early signs and symptoms often involve the hands. Fingers may swell up like sausages, and the fingertips might turn white and become numb. In later stages, some organs — such as the lungs, heart and kidneys — may be affected.

Mixed connective tissue disease occurs most commonly in young women. Treatment often includes drugs such as prednisone.

Symptoms Causes Risk factors Complications

Early indications of mixed connective tissue disease may include:

  • General feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever.
  • Cold and numb fingers. One of the most common early indicators is known as Raynaud's phenomenon — in which your fingers feel cold and numb, often in response to cold or stress. Fingers may turn white and then purplish blue when the blood vessels constrict. After warming, the blood vessels relax, blood flow resumes and the fingers turn red. Toes also can be affected.
  • Swollen fingers. Many people who have mixed connective tissue disease experience swelling in their hands and fingers, sometimes to the point where the fingers resemble sausages.
  • Muscle and joint pain. Mixed connective tissue disease also can result in muscle aches and joint swelling and pain. In some cases, the joints may become deformed, similar to what is seen in rheumatoid arthritis.

When to see a doctor

Make an appointment with your doctor if you have signs and symptoms that are bothersome or interfere with your daily routine — particularly if you've already been diagnosed with lupus or another connective tissue disease.

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