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Lupus and Overlap
Mixed Connective Tissue Disease

 
Some individuals have symptoms and signs of three connective tissue diseases, i.e., lupus, polymyositis-dermatomyositis, and scleroderma. At any given time, the combination of problems encountered by the patient may vary considerably, from no active disease to features of one, two, or all three of these conditions at the same time. These persons often (but not always) have one specific blood antibody in their blood (anti-U1RNP antibody) but not the other antibodies commonly associated with SLE, SSc, or PM-DM.  Whether this is an entirely separate disease, or a situation in which one person has three diseases, remains uncertain. However, the presence of a single blood antibody is a strong
point in favor of a distinctive disease.  As in the other circumstances mentioned above, treatment should be individualized and directed at the particular problems present at any given time.

Mixed connective tissue disease is a term used by some doctors to describe a disorder characterized by features of systemic lupus erythematosus, systemicsclerosis, and polymyositis.

Raynaud's syndrome, joint pains, various skin abnormalities, weakness, and problems with internal organs can develop. Characteristic abnormal antibodies are usually detectable in blood. Treatment is similar to that of systemic lupus erythematosus, often with corticosteroids.

About 80% of people who have this disease are women. Mixed connective tissue disease affects people from ages 5 to 80. Its cause is unknown, but it seems to be an autoimmune disorder.

Symptoms
The typical symptoms are Raynaud's syndrome (in which the fingers suddenly become very pale and tingle or become numb or blue in response to cold or emotional upset-see Peripheral Arterial Disease:



Raynaud's Syndrome), joint inflammation (arthritis), swollen hands, muscle weakness, difficulty in
swallowing, heartburn, and shortness of breath.

Raynaud's syndrome may precede other symptoms by many years. Regardless of how mixed connective tissue disease starts, it tends to worsen, and symptoms spread to several parts of the body.

The hands are frequently so swollen that the fingers look like sausages. A purplish butterfly-shaped rash on the cheeks and bridge of the nose, red patches on the knuckles, a violet discoloration of the eyelids, and red spider veins on the face and hands all may appear. Skin changes similar to those in systemic sclerosis also may occur. The hair may thin.

Almost everyone with mixed connective tissue disease has aching joints. About 75% develop the swelling and pain typical of joint inflammation
(arthritis). Mixed connective tissue disease damages the muscle fibers, so the muscles may feel weak and sore, especially in the shoulders and hips. Tasks such as lifting the arms above the shoulders, climbing stairs, and getting out of a chair can become very difficult.



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