Mixed Connective Tissue Disease (MCTD)

Any disease that has arthritis as a main or primary symptom will be under the arthritis umbrella.  Mixed Connective Tissue Disease is another disease that falls under the arthritis umbrella.  It is also autoimmune, meaning that the body is attacking itself, and it has many dimensions to it.  MCTD is difficult to diagnose initially because it often starts with one symptom, generally arthritis, and others are added in.  MCTD is also known as overlap.  It is a blend of Lupus, Scleroderma, Rheumatoid Arthritis & Polymyositis.  Symptoms aside, it is diagnosed with blood work.  Most patients have a positive Rheumatoid Factor, a high titer, speckled ANA (auto-nuclear antibodies), and a positive RNP factor  (RiboNucleoProtein).  The RNP is what sets it apart from the other diseases.  Lupus & Scleroderma each have other antibodies that stand specifically for them.  Lupus & Scleroderma patients will not have a +RNP.

The symptoms that affect those with MCTD are most often the features of other diseases.  Occasionally, it is possible to develop a disease separately that is also part of MCTD.  Because she had elevated liver enzymes in 2007 before she was diagnosed with arthritis, I believe that my Emily had myositis features happening already then.  We thought it was just her joints, but she was only 5 years old at the time, and she couldn't tell us what hurt or where.  She wouldn't admit to being in any pain.  We wondered why her liver enzymes were elevated for years.  It was only when I started comparing her labwork from her hospitalization with Dermatomyositis that I realized the same markers were used for muscles as for heart and liver.  Not only did she have the myositis features but she developed full-blown DM in 2010.  She had a high grade fever for a week, the classic heliotrope rash, rash on her knees and elbows, and severe muscle inflammation.  With DM, the muscle inflammation is so severe that the affected is too sore and tired to turn over in bed, much less walk or brush their hair.  Emily was crawling to the bathroom.  It also causes extreme itchiness and sun sensitivity.  We have been told that she CANNOT get sunburn.  It will trigger a flare.

Not long after her arthritis was diagnosed in 2008, we noticed that her toes and feet were bright white.  After a few days of paying a LOT of attention, we saw that her hands and feet were also turning blue.  After another doctor appointment, we found out that this was Raynaud's Phenomenon.  I took pictures and showed them to our Pediatric Rheumatologist, and that is how she was diagnosed.  Not long after, he noticed that her skin was hardening a bit.  I couldn't tell what he meant, but eventually I had a hard time sticking her with the needle; the skin was too tough for the needle to penetrate.  While on Methotrexate, also a treatment for Scleroderma, we would have no problem.  However, this rheumy kept yanking her off of MTX because her white blood counts were low, or when her liver enzymes elevated.  Oh, if only we had known!  The Scleroderma features in most of her skin were well cared for with MTX, but that seemed to have little effect on her hands.  One of the hallmark features of this disease are the "sclerodactyl hands".  The fingers are very puffy and red.  The first image is before Prednisone & Dermatomyositis. (The little bumps were hurting her; they look itchy but they were paiful).   The second image is with Prednisone & the hallmarks of DM.  Her hands are currently less red with the steroids, but I suspect that once she's off of steroids the red will be back.

We have much to watch out for.  Taken from Medscape Reference , the breakdown of symptoms for patients with MCTD is as follows:

* Raynaud phenomenon (96% cumulatively, 74% at presentation)
* Arthritis (96% cumulatively, 68% at presentation)
* Esophageal hypomotility (66% cumulatively, 9% at presentation)
* Pulmonary dysfunction (66% cumulatively, rare at presentation)
* Swollen hands (66% cumulatively, 45% at presentation)
* Myositis (51% cumulatively, 2% at presentation)
* Rash (53% cumulatively, 13% at presentation)
* Leukopenia (53% cumulatively, 9% at presentation)
* Sclerodactyly (49% cumulatively, 11% at presentation)
* Pleuritis/pericarditis (43% cumulatively, 19% at presentation)
* Pulmonary hypertension (23% cumulatively, rare at presentation)

For children specifically I found a page for MCTD on Cincinnati Children's site.  Their statistics are as follow: 

Disease characteristicsAffected
Raynaud's phenomenon85
Muscle disease61
Heart Disease        56
Lung Disease (Initially often "silent")40-50
Thickened skin of scleroderma49
Dry eyes and dry mouth36
Rash of lupus (SLE)33
Rash of juvenile dermatomyositis33
Kidney Disease26
Central nervous system disease23
Pulmonary hypertension7

"As the disease progresses, it can affect any of the major organ systems, including skin, joints, muscles, heart, lungs, gastrointestinal tract, kidneys, central nervous system and blood cells."  (Taken from Health  which used Mayo Clinic).  Obviously, the potentially dangerous heart & lung problems worry us the most, especially since Emily also has asthma.  Yes, this is arthritis.  Still think it's not a big deal?  
Mixed Connective Tissue Disease page on was also used as a reference.


  1. My daughter is 20,and has this awlful disease, she was 18 when we found out. My prayers are with your daughter.

  2. have your tried giving your daughter a supplement called msm.. I have been using it and its helped me a lot.

  3. Thank you (MCTD), I enjoyed reading those very much.