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Genetic and Rare Diseases Information Center (GARD)

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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.

Your Question

What can my son expect with this disease? He is 27 years old. Is this going to be disabling?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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[1]
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.[3] Pulmonary hypertension is the most common MCTD-associated cause of death.[2][4]
Last updated: 6/2/2014

References
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.