$Unique_ID{BRK03946} $Pretitle{} $Title{Lupus} $Subject{Lupus Systemic Lupus Erythematosus SLE Lupus Erythematosus Disseminated Lupus Erythematosus Scleroderma Polymyositis Dermatomyositis Osteoarthritis Sjogren's Syndrome Mixed Connective Tissue Disease (MCTD) Raynaud's Disease and Phenomenon} $Volume{} $Log{} Copyright (C) 1984, 1985, 1987, 1988, 1990, 1992, 1993 National Organization for Rare Disorders, Inc. 38: Lupus ** IMPORTANT ** It is possible that the main title of the article (Lupus) is not the name you expected. Please check the SYNONYMS listing to find the alternate name and disorder subdivisions covered by this article. Synonyms Systemic Lupus Erythematosus SLE Lupus Erythematosus Disseminated Lupus Erythematosus Information on the following diseases can be found in the Related Disorders section of this report: Scleroderma Polymyositis Dermatomyositis Osteoarthritis Sjoren's Syndrome Mixed Connective Tissue Disease (MCTD) Raynaud's Disease and Phenomenon 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. Lupus (Systemic Lupus Erythematosus) is an inflammatory disease of the connective tissue. Tissue damage occurs when the body's own immune system attacks healthy tissue causing inflammation and malfunction of various organ systems. Many different symptoms are associated with Lupus, and most patients do not get all of the symptoms. Symptoms Lupus is an inflammatory disease of the connective tissue. The initial symptom of Lupus is usually excessive fatigue. Other early symptoms may include fever, swollen glands, loss of appetite (anorexia), weight loss, headaches, loss of hair (alopecia), and swelling due to fluid retention (edema). Over 90 percent of people with Lupus experience inflammation and swelling of joints (arthritis), joint pain (arthralgia), and generalized muscle pain (myalgia). The knees, fingers, and wrist joints are the most likely to be affected by arthritis-like pain associated with Lupus. In some cases these arthritis symptoms may precede the onset of Lupus by months or even years. Frequently joints on both sides of the body are affected. The inflammation and joint pain associated with Lupus often moves from one area of the body to another, and generally does not destroy the cartilage or bones within the joints (non-erosive). Over 80 percent of people with Lupus experience dermatological (skin) problems. Light sensitive (photosensitive) rashes and other lesions may include: ring-shaped eruptions surrounded by a clear unaffected disk of skin (annular lesion), scaly red spots (discoid lesions), and/or thin walled blisters on the skin greater than one centimeter in diameter containing clear fluid (bullae). About 50 percent of people with Lupus will get a classic red (erythematous) "butterfly rash" across the bridge of the nose and cheeks. This rash may last for hours or days. Lesions of the mucous membranes that line the mouth and nose occur in about 35 percent of patients with Lupus. Lupus may also affect the vascular (blood vessel) system. Vascular involvement may include: a permanent increase in the diameter (dilation) of very small blood vessels (capillary telangiectasia), painfully cold fingers and toes caused by spasms of small vessels in response to cold (Raynaud's phenomenon), and/or inflammation of the blood vessels (vasculitis). Respiratory involvement may also occur with Lupus. Symptoms may include inflammation of the membranes (parietal pleura) that surround the lungs (pleurisy), a persistent cough, and inflammation of the lungs (pneumonitis). Lupus may also affect the heart. Cardiac abnormalities may include: inflammation of the membranous sac that surrounds the heart (pericarditis), inflammation of the muscles of the walls of the heart (myocarditis), and/or coronary artery disease. Lupus may affect the blood and its various components (hematological system). Symptoms may include: low levels of hemoglobin (anemia), an unusual decrease in the number of white blood cells (leukopenia), a decrease in the number of lymphocytes associated with the immune function of the body (lymphocytopenia), a decrease in the number of platelets (thrombocytopenia), and/or disorders of the lymph nodes or lymphatic vessels (lymphadenopathy). These abnormalities of the blood often occur early in the course of Lupus. People with advanced Lupus may sustain kidney and urinary system problems. Elevated levels of protein in the urine (proteinuria), inflammation of the kidneys (interstitial nephritis), and inflammation of the glomerulus (a cluster of blood vessels and nerve fibers) of the kidney (glomerulonephritis), may occur. Behavioral (neuropsychiatric) symptoms of Lupus may include depression, anxiety or psychosis. Seizures and stroke may also occur. Other neurological symptoms may include inflammation and degeneration of the nerve fibers outside the brain and spinal cord (peripheral neuropathy), and inflammation of the membrane that surrounds the brain and spinal cord (meningitis). A tentative diagnosis of Lupus can be made if 4 of the following criteria are present: arthritis involving 2 or more major joints, a rash on the cheeks (malar rash), discoid rash, oral or nasal ulcers, photosensitivity, pleuritis or pericarditis, positive LE cell test, presence of anti-DNA or anti-Sm, or a chronic false positive blood test for syphilis, increased levels of protein in the urine (proteinuria over 0.5 grams/day), cellular casts in the urine, seizures or psychosis, hemolytic anemia, leukopenia, lymphopenia, or thrombocytopenia, and/or an abnormal antinuclear antibody blood test (titer). People with Lupus sometimes experience a temporary flare-up or worsening of symptoms. Flare-ups may occur several times a year or once every few years. These episodes of severe symptoms may be triggered by such factors as stress, infections and exposure to sunlight. Causes Lupus is an autoimmune disease of the connective tissue. The cause of Lupus is unknown. Immunologic, genetic, environmental, hormonal and/or infectious factors may be involved. Autoimmune disorders are caused when the body's natural immune defenses (antibodies, lymphocytes, etc.), against invading organisms mistakenly attack healthy tissue. Scientists suspect a genetic basis for Lupus. Based on studies of twins, researchers have found that one that even if one twin has Lupus and the other is healthy, both twins manufacture abnormal antibodies. However, the healthy twin manufactures fewer antibodies than the twin with Lupus. Scientists do not yet understand the pattern of inheritance of the gene that makes people susceptible to Lupus. "Lupus-like" symptoms have also been induced by some drugs, including hydralazine, procainamide, isoniazid, methyldopa and chlorpromazine. Affected Population Lupus primarily affects females. Ninety percent of the cases of Lupus occur in women of any age although it commonly begins between the ages of 15 to 55 years. African American women are 3 times more likely to get Lupus than Caucasian women. Lupus is also commonly seen in Asian women. Estimates of the prevalence of Lupus in the United States vary considerably. However, the most reliable estimate is that Lupus affects approximately 50 in 100,000 people in the United States. Related Disorders Symptoms of the following disorders can be similar to those of Lupus. Comparisons may be useful for a differential diagnosis: Scleroderma is a rare connective tissue disorder. The cause is unknown. Scleroderma is characterized by skin thickening, painfully cold fingers and toes caused by spasms of small vessels in response to cold (Raynaud's phenomenon), and a wide range of multi-system disorders. The early symptoms of Scleroderma may include: skin rashes, joint pain, morning stiffness, fatigue, and/or weight loss. As the disease progresses the skin becomes rigid, dry, and smooth and may be yellowish or ivory-colored (morphea). (For more information on this disorder, choose "Scleroderma" as your search term in the Rare Disease Database). Polymyositis is a rare connective tissue disease. The cause is unknown. Polymyositis is characterized by inflammatory degenerative changes in the muscle fibers and the supportive collegen of connective tissue. The major early symptom of this disorder is muscle weakness usually in the neck, trunk and shoulders. Eventually it may become difficult to rise from a sitting position, climb stairs, lift objects and/or reach overhead. Occasionally, joint pain and tenderness also occur. Other symptoms may also include: inflammation of the lungs (interstitial pneumonitis), difficulty breathing, coughing, painfully cold fingers in response to cold (Raynaud's phenomenon), digestive problems, and/or heart irregularities. (For more information on this disorder, choose "Polymyositis" as your search term in the Rare Disease Database). Dermatomyositis is a rare connective tissue disease. The cause is unknown. Dermatomyositis is identical to Polymyositis but with the addition of a characteristic red skin rash. These red rashes generally occur before the muscle weakness and usually appear on the face, knees, shoulders and hands. In some patients the skin changes caused by Dermatomyositis are similar to those of Scleroderma. The skin may become dry, hard and have a brownish color. (For more information on this disorder, choose "Dermatomyositis" as your search term in the Rare Disease Database). Osteoarthritis is a common autoimmune disease in which one or many joints undergo degenerative changes. Osteoarthritis is characterized by the loss of cartilage, deformities of bones and joints, and the thickening of the surrounding ligaments and membranes. Osteoarthritis develops when joint repair does not keep pace with bone degeneration. It may also occur as a result of trauma to the bone, aging, obesity, or other underlying disease. Symptoms include pain and joint stiffness particularly in the morning. Sjogren's Syndrome is a rare autoimmune disorder that is characterized by the degeneration of mucous-secreting glands, particularly those of the eyes and mouth. Sjogren's Syndrome can also be associated with rheumatoid arthritis and Lupus. The major symptoms of this disorder include a dry mouth (xerostomia) caused by decreased production of saliva, and dry eyes caused by decreased production of tears. Sjogren's Syndrome primarily affects women, and it often includes muscle pain and arthritis along with mucous membrane symptoms. (For more information on this disorder, choose "Sjogren" as your search term in the Rare Disease Database). Mixed Connective Tissue Disease (MCTD) is a rare inflammatory disorder of the connective tissue. The symptoms of this disorder overlap with those of Lupus (Systemic Lupus Erythematosus), scleroderma and polymyositis. Early symptoms may include: a fever of unknown origin, painfully cold fingers in response to cold (Raynaud Phenomenon), swollen hands, fatigue, and/or non- deforming arthritis. Arthritis occurs in almost every case of MCTD, but rarely results in deformities similar to those seen in Rheumatoid Arthritis. Muscle pain and skin rashes are also very common. These rashes may be similar to those in people with Lupus. (For more information on this disorder, choose "Mixed Connective Tissue Disease" as your search term in the Rare Disease Database.) Raynaud's Disease is a rare disorder characterized by spasms of the blood vessels in the fingers and skin and is considered to be a benign form of Raynaud's Phenomenon which occurs along with other systemic disorders. The major symptom of this disorder is a dramatic stark white pallor of the affected fingers and toes when exposed to cold, although a blue or red color may also be present from time to time. Other symptoms in the affected fingers and toes vary in response to cold and may include: a feeling of numbness or cold, severe aching or pain, tingling or throbbing, a sensation of tightness, "pins and needles," and/or a profound loss of sensation. (For more information on this disorder, choose "Raynaud" as your search term in the Rare Disease Database.) Therapies: Standard The symptoms of Lupus such as joint pain and fever commonly respond to aspirin or other nonsteroidal anti-inflammatory drugs. Anti-malarial drugs such as hydorxychloroquine and chloroquine may treat skin rashes effectively. Precaution should be used when taking anti-malarial medications. Prolonged treatment with these drugs may cause side effects such as visual disturbances and nausea. The standard treatment for the more severe symptoms of Lupus is the administration of corticosteroid drugs. Prednisone or its equivalent are the most frequently used drugs in this category. Initial treatment and maintenance dosages vary according to what organ system or systems are involved, the patient's response to these medications, possible side effects and duration of use. Corticosteroid creams and lotions may effectively control some rashes and skin irritation that are caused by Lupus. These creams should be used with caution on the face and in the presence of skin infection. Since infections can be a major problem for people with Lupus, any infection should be treated immediately and aggressively with antibiotics. People with Lupus should avoid over-exposure to ultraviolet light. This includes exposure to direct sunlight. They should also avoid the use of oral contraceptives. For Lupus patients who experience severe kidney damage, hemodialysis may be prescribed when kidney function is lost. Therapies: Investigational Immunosuppressive therapies (drugs that suppress the immune system) for the treatment of people with Lupus are sometimes used in cases where the kidneys are involved. It is thought that suppression of the immune system will also suppress the formation of the antibodies which appears to cause the widespread destruction of tissue characteristic of Lupus. An important side effect of immunosuppressive drugs is an increased susceptibility to infections. However, some common immunosuppressive drugs that are sometimes used to treat Lupus include azathioprine and cyclophosphamide in combination with corticosteroids. Deflazort is an anti- inflammatory cortico-derivative drug that may cause less bone loss than prednisone with equal effectiveness. Research is underway to determine the possible long-term side effects and effectiveness of Deflazort for use as a treatment for Lupus. Researchers are studying the use of Cyclophosphamide for people with Lupus who have kidney or central nervous system involvement. Cyclophosphamide is a powerful drug used to treat certain types of cancer. Intravenous cyclophosphamide given once per month may enable people who have Lupus to significantly reduce their daily doses of prednisone. Further research is needed on this treatment. Studies are being conducted on the use of immune globulin as an intravenous treatment for Lupus. Further investigation is needed to determine its safety and effectiveness. Other experimental treatments include corticosteroids given intravenously and attempts at plasmapheresis to physically remove the damaging combinations of antibodies and associated proteins from the circulating blood of people with Lupus. Plasmapheresis is a method for removing unwanted substances (in this case antibodies and associated proteins) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is transfused back into the patient. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Lupus. Lymphoplasmapheresis (a similar procedure involving lymphocytes) is also being investigated as a possible treatment for people with advanced Lupus. An orphan drug is being tested in the treatment of Lupus Nephritis. The drug is monoclonal antibody for immunization against this type of nephritis. The drug is sponsored by: Medclone, Inc., 2435 Military Ave., Los Angeles, CA, 90064. This disease entry is based upon medical information available through February 1993. 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 Lupus, please contact: The National Organization for Rare Disorders, Inc. (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Lupus Foundation of America, Inc. 4 Research Place, Suite 180 Rockville, MD 20850 (301) 670-9292 (800) 558-0121 Lupus Foundation of America, Inc. P.O. Box 2446 Victorville, CA 92393 Systemic Lupus Erythematosus Foundation, Inc. 95 Madison Avenue, Room 1402 New York, NY 10016 (212) 685-4118 The American Lupus Society 3914 Del Amo Blvd., Suite 922 Torrance, Ca 90503 (213) 542-8891 (800) 331-1802 The National Arthritis, Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 References THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1274. MENDELIAN INHERITANCE IN MAN, 10th Ed.: Victor A. McKusick, Editor: Johns Hopkins University Press, 1992. Pp. 675-676. CECIL TEXTBOOK OF MEDICINE, 19th Ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1990. Pp. 1522-1530. SYSTEMIC LUPUS ERYTHEMATOUS, D.S. Pisetsky; Curr Opin Immunol (Dec 1991 3(6)): Pp. 917-923. TREATMENT OF SYSTEMIC LUPUS ERYTHEMATOSUS, M.L. Miller; Curr Opin Rheumatol (Oct 1991 3(5)): Pp. 803-808. SYSTEMIC LUPUS ERYTHEMATOUS, M.C. Hochberg; Rheum Dis Clin North Am (Aug 1990 16(3)): Pp. 617-639. ARTHRITIS AND RHEUMATISM: M. Reichlin, et al.; Arthritis and Rheumatism (April, 1992, issue 35 (4)). Pp. 457-64.