Mixed Connective Tissue Disease

What is Mixed Connective Tissue Disease?

Mixed Connective Tissue Disease is known as an overlap syndrome because it has the characteristics of three different disorders that also alter the connective tissues of the body. These disorders include polymyositis, systemic lupus erythematosus and scleroderma.

This disorder can occur in adults and children, but it is normally diagnosed in women who are younger than 30 years of age. The reasons why some people get this disorder is not fully known and although individuals cannot inherit this disorder, it seems to run in families. Other theories include being exposed to the chemicals in silica or polyvinyl chloride.

What are the Symptoms of Mixed Connective Tissue Disease?

The symptoms of mixed connective tissue disease often differ from one person to another, but they mimic the symptoms of the overlapped diseases. Common symptoms that imitate systemic lupus erythematosus include arthritic joints that are painful, kidney problems, breathing issues and chest pains.

Symptoms that copy scleroderma include swollen fingers that appear thick in girth and blue-colored fingers and toes, which occurs due to restricted blood flow to these digits. Doctors diagnose mixed connective tissue disease by taking blood tests and checking the levels of ANA and anti-RNP antibodies in the blood.

Mixed Connective Tissue Disease Causes

Doctors and researchers do not know exactly what causes Mixed Connective Tissue Disease. Because it is an autoimmune disease, they do know that the immune system mistakes healthy cells in the body’s connective tissues for unhealthy cells and attacks them. The specific proteins produced by the immune system that are responsible for triggering this particular response are being still identified by researchers.

Some individuals who are diagnosed with this condition do have a family history of it, but no one knows exactly how this is passed on. At this point, no one knows about anything in the environment that causes it to occur.

While the condition can affect anyone at any time, it is most likely to affect women under the age of 30. People from some ethnic or geographic groups are more prone to the condition than others. It seems to be especially prevalent in the country of Japan.

How is Mixed Connective Tissue Disease Treated?

The treatment of this disorder depends on the symptoms of each individual. Inflammation in the connective tissues is often treated with an immunosuppressive or an anti-inflammatory drug, such as prednisone, methotrexate and hydroxychloroquine. Some individuals use physical therapy to help relieve painful muscles and joints.

Topical medications, such as nifedipine and losartan, may be prescribed to improve blood flow to the extremities. If blood flow continues to be hindered, individuals may get gangrene in their fingers and toes. Kidney damage can be averted by taking captopril and enalapril. Individuals who have arthritis symptoms are often prescribed medications, such as adalimumab and infliximab.

Mixed Connective Tissue Disease Prevention

Because the exact cause of this condition is not known, there is no way to prevent mixed connective tissues disease from occurring. Diagnosis of the condition is only made after a combination of symptoms of systemic lupus erythematosus, scleroderma and polymyositis appear, so an initial diagnosis will probably be for one of those conditions first.

In terms of prevention, doctors are concentrating on the development of care management plans to aid in stopping some of the complications that can occur as a result of the condition. Each plan is different, and depends on how the overlapping conditions combine as well as what symptoms appear.

Individuals with a family history of the condition should meet with their doctors to discuss the risk of the condition occurring. People who have been diagnosed should set up a care management plan with their doctor.