$Unique_ID{BRK04006} $Pretitle{} $Title{Mixed Connective Tissue Disease (MCTD)} $Subject{Mixed Connective Tissue Disease (MCTD) Connective Tissue Disease MCTD} $Volume{} $Log{} Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc. 338: Mixed Connective Tissue Disease (MCTD) ** IMPORTANT ** It is possible the main title of the article (Mixed Connective Tissue Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Connective Tissue Disease MCTD General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Mixed Connective Tissue Disease is a collagen disorder. MCTD is often used to describe what may be an overlapping group of connective tissue disorders that cannot be diagnosed in more specific terms. The syndrome is characterized by arthritic, cardiac, pulmonary and skin manifestations, kidney disease, muscle weakness, and dysfunction of the esophagus. Symptoms Raynaud's Phenomenon may precede disease manifestations by months or years, and is consists of coldness or numbness of the fingers and/or toes. Raynaud's occurs in approximately eighty-five percent of patients with MCTD. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database). Pain in multiple joints (polyarthralgia) or arthritis similar to rheumatoid arthritis, occurs in almost all patients. Muscle weakness due to inflammation (myopathy) with or without tenderness is also common. Puffiness of the hands with swelling (edema) and increased collagen content in the skin (found in two-thirds of patients with MCTD), may be also be present. Other frequent skin findings include lupus-like rashes (including reddish brown patches), erythematous patches (redness) over the knuckles, violet discoloration of the eyelids, non-scarring loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia). Dysfunction of the esophagus (hypomotility) may be found in eighty percent of patients with MCTD, including many who show no other symptoms. Abnormalities in lung function have been found in eighty percent of patients tested. In some patients, lung involvement may lead to breathing difficulties. Heart involvement appears to be less common in MCTD than lung problems. However, two-thirds of children in one pediatric study had evidence of pericarditis, myocarditis and aortic insufficiency. Kidney disease occurs in only ten percent of patients with MCTD and is often mild. On occasion, however, it can become a major problem. Neurologic abnormalities are noted in only ten percent of patients with MCTD. These findings may include a functional disturbance of facial sensation due to involvement of the fifth cranial nerve (trigeminal sensory neuropathy), a cognitive disorder caused by or associated with impaired brain tissue function (organic mental syndrome), blood vessel constriction causing "vascular" headaches, a mild form of meningitis (aseptic meningitis), seizures, blockage of a cerebral vessel (cerebral thrombosis) or hemorrhage, and various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies). Moderate anemia and a reduction in the white blood cell count (leukopenia) occur in thirty to forty percent of cases. Fever, disease of the lymph nodes (lymphadenopathy), enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and intestinal involvement may also occur in a few cases. MCTD may be similar to, or overlap with systemic lupus erythematosus (SLE), scleroderma, progressive systemic sclerosis (PSS) and polymyositis. For more information on the above disorders, choose the following words as your search terms in the Rare Disease Database: Lupus, Scleroderma, PSS, or Polymyositis. Causes The exact cause of Mixed Connective Tissue Disease is unknown, although certain findings suggest that a dysfunction of the immune system may be involved, or in some cases it may be genetic. MCTD appears to be an autoimmune disorder. Autoimmune syndromes are caused by the body's natural defenses (antibodies) against invading organisms which, for unknown reasons, begin to attack healthy tissue. Affected Population Onset of Mixed Connective Tissue Disease can occur from four years of age to eighty years. Average age of onset is thirty seven-years. Approximately eighty percent of patients are female. The disease may occur worldwide. Related Disorders Systemic Lupus erythematosus (SLE) is an inflammatory connective tissue disease that can affect many parts of the body including the joints, skin and internal organs. Lupus is a disease of the body's immune system, most often striking young women between the ages of fifteen and thirty five years. Scleroderma, also known as progressive systemic sclerosis, refers to a group of chronic connective tissue disorders characterized by fibrosis, degenerative changes, and vascular abnormalities in the skin. Scleroderma is characterized by chronic hardening and shrinking of the connective tissues of any part of the body, although the term literally means "hardening of the skin." Polymyositis is a connective tissue disease characterized by inflammatory and degenerative changes in the muscles with some degree of muscle atrophy. For more information on the above disorders, choose "Lupus," "Scleroderma," and "Polymyositis" as your search terms in the Rare Disease Database. Therapies: Standard Although no controlled studies have been performed, many of the manifestations of MCTD appear to respond to therapy with corticosteroids. Mild forms of the disease appear to be controlled by nonsteroidal anti- inflammatory drugs or low doses of corticosteroids. When more severe involvement of major organs occurs, larger doses of corticosteroids may be of benefit. This drug treatment also seems to improve skin symptoms and functioning of the esophagus and lungs. Therapies: Investigational Research into connective tissue diseases is ongoing. The primary goal at this time is to understand the cause. Discovery of the mechanisms which cause this group of diseases would be a major step forward in discovering better treatment or a cure. This disease entry is based upon medical information available through March 1987. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Mixed Connective Tissue Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Coalition of Heritable Disorders of Connective Tissue c/o National Marfan Foundation 382 Main St. Port Washington, NY 11050 (516) 944-5412 Arthritis Foundation 1314 Spring Street NW Atlanta, GA 30309 (404) 872-7100 Scleroderma Society 1725 York Ave., Suite 29F New York, NY 10128 United Scleroderma Foundation P.O. Box 350 Watsonville, CA 95077 1-800-722-HOPE (outside CA) Scleroderma Info Exchange 106 Quaker Drive West Warwick, RI 02893 Sjogren's Foundation 29 Gateway Drive Great Neck, NY 11021 (516) 487-2243 National Lupus Foundation 5430 Van Nuys Blvd., Suite 206 Van Nuys, CA 91401 Lupus Foundation of America 1717 Massachusetts Ave. NW, Suite 20 Washington, DC 20036 (209) 328-4550 Lupus Foundation of America Inc. P.O. Box 2446 Victorville, CA 92393 Systemic Lupus Erythematosus Foundation 149 Madison Ave., 10th Floor New York, NY 10016 The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References PRIMER ON THE RHEUMATIC DISEASES, 8th Ed: Gerald P. Rodnan, M.D., et. al., eds.; Published by the Arthritis Foundation, Atlanta, GA 1986. Pp. 65-66.