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Mixed connective tissue disease


Other Names for this Disease

  • MCTD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is mixed connective tissue disease?

What are the signs and symptoms of mixed connective tissue disease?

What causes mixed connective tissue disease?

Is mixed connective tissue disease inherited?

How might mixed connective tissue disease be treated?

What is the long-term outlook for people with mixed connective tissue disease?

What is mixed connective tissue disease?

Mixed connective tissue disease (MCTD) is an autoimmune disorder that causes overlapping features of three connective tissue disorders: lupus, scleroderma, and polymyositis. MCTD may also have features of rheumatoid arthritis. This condition is most often diagnosed in women in their 20s and 30s. Occasionally, children are affected.[1] At this time the cause of this condition is unknown. Treatment may involve the use of nonsteroidal anti-inflammatory drugs (NSAIDs), antimalarials, and/or corticosteroids. In cases with severe visceral involvement, additional immunosuppressants may be needed.[2]
Last updated: 6/2/2014

What are the signs and symptoms of mixed connective tissue disease?

People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis.

A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common.

Other signs and symptoms may include:
  • accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema)
  • skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia)
  • dysfunction of the esophagus (hypomotility)
  • abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension
  • heart (cardiac) involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency
  • kidney (renal) disease
  • neurologic abnormalities (in about 10 percent of people with MCTD) such as trigeminal sensory neuropathy; organic brain syndrome; blood vessel narrowing causing "vascular" headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or hemorrhage; or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies)
  • anemia and leukopenia (in 30 to 40 percent of cases)
  • lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), or intestinal involvement in some cases[3]
Last updated: 6/2/2014

What causes mixed connective tissue disease?

The cause of mixed connective tissue disease (MCTD) is currently not known. It is an autoimmune disorder, which means that in people with this condition, the immune system mistakes normal, healthy cells for those that that body should "fight off." There have been ongoing studies looking at how the immune system is involved in people with this condition.[4][5] 
Last updated: 6/2/2014

Is mixed connective tissue disease inherited?

The role of genetics in the onset of connective tissue disease is still unclear. Research suggests that many factors, including genetics, hormones, and the environment contribute to the development of autoimmune conditions like mixed connective tissue disease. It is thought that some individuals may be genetically predisposed to develop this disease. This means that a person's genes may make them more likely to develop the condition.[4][5]
Last updated: 6/2/2014

How might mixed connective tissue disease be treated?

Currently there is not a cure for mixed connective tissue disease (MCTD). However, treatments to help control signs and symptoms of MCTD are available.[6][7] Treatment may involve over-the-counter or prescription nonsteroidal anti-inflammatory drugs.  Glucocorticoids may be recommended in certain situations, such as during disease flares or when complications arise (e.g., aseptic meningitis, myositis, pleurisy, pericarditis, and myocarditis).[6] Some people with MCTD require long term use of immunosuppressant medications. The choice of medication depends on the person's symptoms.[6][7] For example, if a person with MCTD has developed symptoms similar to those of lupus, medications typically prescribed for people with lupus may be recommended.[7]

You can find further general information about the treatment of mixed connective tissue disease on the Mayo Foundation for Medical Education and Research Web site.
Last updated: 6/2/2014

What is the long-term outlook for people with mixed connective tissue disease?

In general, the long-term outlook (prognosis) for people with mixed connective tissue disease (MCTD) is favorable, but it mostly depends on which visceral findings are present in the affected person.[2]

The overall 10-year survival rate of the disease is about 80%.[2] Some people have symptom-free periods lasting for many years with no treatment. Despite treatment, the disease gets worse in about 13% of people and can cause potentially fatal complications in six to 12 years. The prognosis is worse for people who have features mainly of systemic sclerosis or polymyositis.[8] Pulmonary hypertension is the most common MCTD-associated cause of death.[2][9]
Last updated: 6/2/2014

References
  1. Mixed connective tissue disease. Mayo Foundation for Medical Education and Research. February 20, 2010; http://www.mayoclinic.com/health/mixed-connective-tissue-disease/DS00675. Accessed 2/9/2012.
  2. Zahir Amoura and Laurent Arnaud. Mixed connective tissue disease. Orphanet. October, 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=809. Accessed 6/2/2014.
  3. MIXED CONNECTIVE TISSUE DISEASE (MCTD). NORD. October 12, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/338/viewAbstract. Accessed 6/3/2014.
  4. Hoffman RW. Mixed Connective Tissue Disease. eMedicine. August 2008; http://www.emedicine.com/med/TOPIC3417.HTM. Accessed 9/15/2011.
  5. Wozniacka A, Schwartz RA. Mixed Connective Tissue Disease. eMedicine. September 2009; http://www.emedicine.com/derm/TOPIC766.HTM. Accessed 9/15/2011.
  6. Bennett RM. Prognosis and treatment of mixed connective tissue disease. In: Basow, DS (Ed). UpToDate. Waltham, MA: UpToDate; 2012;
  7. Mixed connective tissue disease. Mayo Foundation for Medical Education and Research. February 20, 2010; http://www.mayoclinic.com/health/mixed-connective-tissue-disease/DS00675/DSECTION=treatments-and-drugs. Accessed 2/9/2012.
  8. Rula A. Hajj-ali. Mixed Connective Tissue Disease (MCTD). Merck Manuals. August, 2013; http://www.merckmanuals.com/home/bone_joint_and_muscle_disorders/autoimmune_disorders_of_connective_tissue/mixed_connective_tissue_disease_mctd.html?qt=&sc=&alt=#top. Accessed 6/3/2014.
  9. Mixed connective tissue disease. The Doctor'd Doctor. January 31, 2002; http://www.thedoctorsdoctor.com/diseases/mctd.htm. Accessed 6/3/2014.


Other Names for this Disease
  • MCTD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.