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$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.