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Mixed Connective Tissue Disease

Mixed Connective Tissue Disease
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Mixed connective tissue disease (MCTD) is an autoimmune condition in which the immune system works too well in some ways and not well enough in others. This condition has the signs and symptoms of several disorders, including lupus, scleroderma and polymyositis (chronic inflammation of the muscles), so it is actually an overlap of several conditions. 

MCTD can be associated with Raynaud disease and can also cause arthritis, fevers and malaise (unexplainable fatigue). Most children are older adolescents when they are diagnosed with the condition, though it can rarely occur earlier.

Other symptoms of MCTD include:

  • Photosensitivity (sensitivity to sunlight)
  • Rashes
  • Sores in the mouth and nose
  • Swollen fingers or hands
  • Muscle and joint pain
  • Inflammation in the lungs and heart

Diagnosis of Mixed Connective Tissue Disease

Pediatric rheumatologists at Riley at IU Health diagnose MCTD using a combination of certain clinical findings and lab studies. These findings and studies help the rheumatologists diagnose symptoms that are more consistent with MCTD than with any other condition it can mimic. Your child's pediatric rheumatologist will perform a:

  • Medical history. A comprehensive medical history can help put together symptoms in a variety of organs to help make the diagnosis.
  • Physical exam. A physical exam checks for swollen hands and painful, swollen joints.
  • Blood test. A blood test can be performed to check for the specific antibody that is linked with MCTD.

If your child’s doctor diagnoses him or her with MCTD, it is important that you seek treatment quickly. This may help limit the effects of some of the more serious symptoms related to the condition such as inflammation around the heart and lungs.

Treatments

Treatments

While there is not yet a cure for MCTD, a combination of medicines can help effectively manage symptoms. Some children with this condition will only need to take medicine when they have flare-ups or during times when symptoms are present. Other children who have a more serious form of MCTD may need to take medicine all the time.

Your child’s doctor may prescribe one or more of the following medicines to control the symptoms of MCTD:

  • Corticosteroids. Medicines like prednisone can help keep your child’s immune system from attacking its healthy cells. Corticosteroids help reduce inflammation.
  • Immunosuppressants. Your child’s doctor may prescribe specific immunosuppressant medicines based on his or her symptoms. For example, if your child’s symptoms mimic lupus, then the doctor may prescribe medicines that are normally used to treat lupus.
  • Antimalarial medication. Your child’s doctor may prescribe hydroxychloroquine (Plaquenil®) to help prevent flare-ups of the condition and to maintain a remission.
  • Calcium channel blockers. These medicines can help relax the muscles in the walls of the blood vessels, which helps reduce related inflammation and controls Raynaud phenomenon.

A child with MCTD needs to be seen by his or her rheumatologist about every three to six months to monitor the disease and reassess the treatment regimen.

Key Points to Remember

Key Points to Remember

  • MCTD often mimics the signs and symptoms of other autoimmune disorders. Your child’s doctor must perform a complete medical history, physical exam and blood tests to definitively diagnose MCTD.
  • Inflammation of the heart and lungs—sometimes associated with MCTD—can lead to serious complications. The inflammation should be treated right away to avoid long-term damage.
  • Researchers have not yet discovered a cure for this disorder. Your child’s doctor will likely prescribe a combination of medicines to control symptoms and flare-ups.

Support Services & Resources

Support Services & Resources

Visit the trusted websites below to learn more about MCTD:

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

National Organization for Rare Disorders

The National Organization for Rare Disorders (NORD) provides detailed information about MCTD.

Locations

Locations

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.

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Departments Treating This Condition

Departments Treating This Condition

  • Cardiology
  • Rheumatology
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