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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 is mixed connective tissue disease diagnosed?

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 a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis.[1] Although MCTD can affect people of all ages, it appears to be most common in women under age 30.[2] Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus.[3][1] The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.[2]
Last updated: 12/29/2014

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.[3]

A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD develop. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common.[3]

Other signs and symptoms may include:[1][3][4]
  • 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 involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency
  • Kidney disease
  • Neurologic abnormalities (in about 10 percent of people with MCTD) such as organic brain syndrome; blood vessel narrowing causing "vascular" headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/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), and/or intestinal involvement in some cases
Last updated: 12/29/2014

What causes mixed connective tissue disease?

The exact underlying cause of mixed connective tissue disease (MCTD) is currently unknown. It is an autoimmune disorder, which means the immune system mistakes normal, healthy cells for those that that body should "fight off." There are ongoing studies exploring how immune system dysfunction may be involved in the development of this condition.[1][3]
Last updated: 12/29/2014

Is mixed connective tissue disease inherited?

The role of genetics in the onset of mixed connective tissue disease (MCTD) is still unclear. Some people with MCTD have family members who are also affected by the condition. This suggests that in some cases, an inherited predisposition may contribute to the development of MCTD. People with an inherited or genetic predisposition have an increased risk of developing a certain condition due to their genes.[3][5]
Last updated: 12/29/2014

How is mixed connective tissue disease diagnosed?

Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.[1][3][6]
Last updated: 12/29/2014

How might mixed connective tissue disease be treated?

There is currently no cure for mixed connective tissue disease (MCTD). However, treatments can help manage symptoms of the condition. For example, medications such as over-the-counter or prescription nonsteroidal anti-inflammatory drugs may help with inflammation and pain of the muscles or joints. 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). Some people with MCTD require long term use of immunosuppressant medications.[1][7]

Additional medications may be prescribed based on the signs and symptoms present in each person. 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.[2]

For additional information about the treatment of MCTD, visit the Mayo Foundation for Medical Education and Research Web site.
Last updated: 12/30/2014

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 the signs and symptoms present in each person.[8][1]

The overall 10-year survival rate of the disease is about 80%.[8] 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.[9] The prognosis is worse for people with features of systemic sclerosis and/or polymyositis. Pulmonary hypertension is the most common MCTD-associated cause of death.[8]
Last updated: 12/30/2014

References
  1. Eric L Greidinger, MD. Mixed Connective-Tissue Disease. Medscape Reference. February 2013; http://emedicine.medscape.com/article/335815-overview.
  2. Mixed Connective Tissue Disease. Mayo Foundation for Medical Education and Research. May 2012; http://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/basics/definition/con-20026515?METHOD=print.
  3. Mixed Connective Tissue Disease (MCTD). NORD. October 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/338/viewAbstract.
  4. Robert M Bennett, MD, FRCP, MACR. Clinical manifestations of mixed connective tissue disease. UpToDate. September 2014; Accessed 12/29/2014.
  5. Robert A Schwartz, MD, MPH. Dermatologic Manifestations of Mixed Connective Tissue Disease. Medscape Reference. May 2014; http://emedicine.medscape.com/article/1066445-overview.
  6. Robert M Bennett, MD, FRCP, MACR. Definition and diagnosis of mixed connective tissue disease. UpToDate. October 2014; Accessed 12/29/2014.
  7. Robert M Bennett, MD, FRCP, MACR. Prognosis and treatment of mixed connective tissue disease. UpToDate. December 2013;
  8. 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.
  9. 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.


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.