Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.

Symptoms

Newline Maker

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

References
  1. 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.


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.