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Mixed connective tissue disease (MCTD) is a rare connective tissue disease, or rather a mish-mash of other connective tissue diseases. Patients typically present with symptoms of lupus, arthritis, polymyositis, and scleroderma. 

The cause of MCTD is unknown at present, though it strongly appears to be an autoimmune disorder. Over 80 percent of all patients are female.

Symptoms Of MCTD

Early signs of mixed connective tissue disease are most likely to involve the hands and toes. Raynaud's phenomenon, a condition characterized by unusually cold and numb extremities and caused by both widening and narrowing of the blood vessels in the area, can appear years before other symptoms. Up to 85 percent of all MCTD patients will develop Raynaud's phenomenon. In addition, a swelling of the fingers so severe that they resemble sausages is another frequent early symptom of mixed connective tissue disorder. 

General malaise and fatigue, sometimes accompanied by a low-level fewer, rashes around the knuckles and cuticles, discoloration of the eyelids, and hair loss are other symptoms. 

As the disease progresses, patients will begin to notice pain and inflammation within multiple joints. Muscle weakness is another later symptom of MCTD. An estimated 80 percent of patients will also suffer from hypomotility of the esophagus along with long-function abnormalities. Neurological symptoms including the loss of sensation within part of the face and seizures are also possible, along with renal disease. However, both neurological and renal symptoms only affect around 10 percent of MCTD patients. Anemia and leukopenia (a low white blood cell count) are present in approximately 40 percent of mixed connective tissue disease patients. 

Diagnosis Of MCTB

Anybody experiencing any of the above symptoms should seek medical help, though not necessarily with MCTB in mind since these symptoms have many other possible explanations. Those already diagnosed with other connective tissue diseases should be particularly quick to seek medical attention, however. 

In order to prepare for your diagnostic appointment, it is helpful to write down as much information about your symptoms as you can, and to make a list of your medical conditions and any medications you may be taking as well as providing details of your family medical history. Should your symptoms point to MCTB, you will most likely be referred to a rheumatologist.

 

Managing Mixed Connective Tissue Disease

There is, at present, no treatment for mixed connective tissue disease. However, its symptoms can be managed one by one. While less severe forms of MCTD can often be managed by non-steroidal anti-inflammatory medications or low dosages of corticosteroids, more severe cases respond better to Prednisone and in some cases immunosuppressive drugs. Calcium channel blockers can be used to treat Raynaud's phenomenon, while separate medication will also be provided to those suffering from long-function issues. 

Many people who are newly diagnosed or have loved-ones with MCTD wonder what the long-term prognosis is. Because symptoms and severity vary a great deal, it is difficult to make blanket statements regarding prognosis, however, data suggests that 80 percent of people receiving ongoing medical care to manage MCTB survive for at least 10 years following diagnosis.

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