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Lupus

Synonyms of Lupus

  • Disseminated lupus erythematosus
  • Lupus erythematosus

Disorder Subdivisions

  • Discoid lupus erythematosus (DLE)
  • Drug-induced lupus erythematosus
  • Systemic lupus erythematosus (SLE)

General Discussion

Lupus is a chronic, inflammatory autoimmune disorder affecting the connective tissue. In autoimmune disorders, the body's own immune system attacks healthy cells and tissues causing inflammation and malfunction of various organ systems. In lupus, the organ systems most often involved include the skin, kidneys, blood and joints. Many different symptoms are associated with lupus, and most affected individuals do not experience all of the symptoms. In some cases, lupus may be a mild disorder affecting only a few organ systems. In other cases, it may result in serious complications.

There are at least three forms of lupus: the classic form, systemic lupus erythematosus; a form that only affects the skin, discoid lupus erythematosus; and drug-induced lupus erythematosus. The term lupus is most often used to denote systemic lupus erythematosus.

Symptoms

Lupus is an autoimmune disease of the connective tissue. Symptoms range from mild to severe and may wax and wane over time for no apparent reason. Lupus may affect various organ systems of the body. The specific symptoms present as well as the severity varies widely from case to case.

Systemic Lupus Erythematosus (SLE)
Early symptoms systemic lupus erythematosus may include fatigue, rash, mouth ulcers, aching joints, fever, weight loss or gain, headaches, loss of hair (alopecia), and inflammation of the membranes that surround the lungs (pleurisy or pleuritis).

More than 90 percent of people with SLE 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 such arthritis-like pain. In some cases, these arthritis-like symptoms may precede the onset of SLE by months or even years. Frequently, joints on both sides of the body (bilateral) 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). Individuals with SLE may also experience muscle pain and weakness.

Approximately 60 to 70 percent of people with SLE experience skin (dermatological) 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 35 percent of people with SLE will develop 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 20 percent of individuals with SLE. Some affected individuals experience rashes on their face, ears, upper arms, shoulders, chest, and hands.

In some cases, SLE also affects the blood vessels (vascular 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 dilation or constriction of small vessels in response to cold (Raynaud's phenomenon); and/or inflammation of the blood vessels (vasculitis). Some affected individuals may experience a discoloring of their fingers and toes.

Respiratory involvement may also occur in individuals with SLE. The most common symptom associated with the lungs (pulmonary) in individuals with SLE is inflammation of the membranes (parietal pleura) that surround the lungs (pleurisy or pleuritis), Additional symptoms may include a persistent cough, inflammation of the lungs (pneumonitis), and accumulation of fluid in the space (pleura) between the lung and chest wall (pleural effusion). SLE may also affect the heart. Cardiac abnormalities may include: inflammation of the blood vessels around the heart (coronary vasculitis), inflammation of the membranous sac that surrounds the heart (pericarditis), inflammation of the muscles of the walls of the heart (myocarditis), bacterial infection of the heart (endocarditis), and/or coronary artery disease. Individuals with SLE may exhibit symptoms commonly associated with these various heart conditions including chest pain, fever, rapid heartbeat, and shortness of breath.

SLE may affect the blood and its various components (hematological system). Symptoms may include: low levels of circulating red blood cells (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). Some affected individuals may have an increased risk for blood clots. These abnormalities of the blood often occur early during the course of SLE.

People with advanced SLE may sustain kidney and urinary system problems, a condition known as lupus nephritis or lupus glomerulonephritis. In some cases, no symptoms of lupus nephritis may be apparent. In other cases, elevated levels of protein in the urine (proteinuria); inflammation of the kidneys (interstitial nephritis); and inflammation of the cluster of blood vessels and nerve fibers of the kidney (glomerulo), a condition known as glomerulonephritis, may occur. Loss of protein in the urine may lead to swelling (edema) in the feet, ankles or legs. In some cases, lupus nephritis may progress to cause serious complications.

Behavioral (neuropsychiatric) symptoms of SLE may include depression, anxiety or psychosis. Seizures and stroke may also occur in some cases. Some affected individuals experience memory disturbances and vision problems. Additional 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).

Individuals with SLE experience periods of time during which none or few symptoms are present (remission). Affected individuals also experience temporary flare-ups during which time symptoms recur. 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.

Discoid Lupus Erythematosus (DLE)
Symptoms of discoid lupus erythematosus, also known as cutaneous lupus, primarily affect only the skin. Individuals with DLE develop a characteristic red rash or skin eruption on the face, neck, scalp and other areas commonly exposed to the sun. The rash consists of thick, "coin-shaped" (discoid), reddish scaly (erythematosus) skin lesions. In some cases, these lesions may spread to affect other areas of the body such as the mucous membranes of the mouth. Discoid skin lesions often lead to scarring and discoloration of the skin. Individuals with DLE may also experience hair loss and abnormal sensitivity to sunlight (photosensitivity).

In approximately 10 percent of cases, affected individuals develop DLE as the initial symptoms of systemic lupus erythematosus. In such cases, affected individuals eventually develop SLE.

Drug-Induced Lupus Erythematosus
In most cases, symptoms of drug-induced lupus erythematosus as similar to those of a mild case of SLE. Overlapping symptoms may include fatigue, malaise, fever, joint pains, inflammation of the membranes (parietal pleura) that surround the lungs (pleurisy), and lymph gland swelling. Central nervous system abnormalities and kidney (renal) disease do not occur in individuals with drug-induced lupus erythematosus except in rare instances.

Causes

Lupus is an autoimmune disease of the connective tissue. The causes of systemic lupus erythematosus and discoid lupus erythematosus are unknown. Immunologic, genetic, environmental, hormonal and/or infectious factors may be involved. Autoimmune disorders are caused when the body's natural defenses against "foreign" or invading organisms begin to attack healthy tissue for unknown reasons.

Scientists suspect a genetic basis may exist for lupus. Based on studies of twins, researchers have found 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.

Drug-induced lupus erythematosus is caused by the use of certain drugs. The two drugs most associated with drug-induced lupus erythematosus are hydralazine (Apresoline) and procainamide (Procan, Pronestyl). Other drugs linked to drug-induced lupus erythematosus include isoniazid (INH), methyldopa (Aldomet), quinidine (Quinaglute), chlorpromazine, and minocycline.

Genes involved in lupus may be multiple. Researchers believe that various genes that predispose people to lupus are inherited. A defective gene believed to be responsible for some cases of lupus is believed to be located on the long arm of chromosome 1 (1q23). Chromosomes, which are present in the nucleus of human cells, carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males, and two X chromosomes for females. Each chromosome has a short arm designated as "p" and a long arm identified by the letter "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11.

Another defective gene that may play a role in the development of systemic lupus erythematosus is the Ifi202 gene, which encodes an interferon-inducible protein.

Affected Populations

Lupus affects both males and females and can occur at any age from infancy into old age. Systemic lupus erythematosus primarily affects females with ninety percent of the cases occurring in women. Women of any age may develop the disorder although it commonly begins between 15 and 45 years of age. African American women are three times more likely to get lupus than Caucasian women. Lupus is also commonly seen in women of Asian, Hispanic, and Native American ancestry. In discoid lupus erythematosus, the female to male ratio is approximately 3:2. The disorder occurs most commonly between the ages of 20 and 40.

Lupus is estimated to affect anywhere from 300,000 to 1.5 million individuals in the United States. Lupus affects approximately 50 in 100,000 people in the United States. According to one estimate, more than 16,000 individuals develop lupus each year in the United States.

Discoid lupus erythematous is extremely rare in childhood. More than 20 cases have been reported in the medical literature. Only 2 percent of individuals with discoid lupus erythematous experience onset before 10 years of age.

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 thickening of the skin, extreme sensitivity to cold that is most often felt in the fingers caused by narrowing of blood vessels in the fingers (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 often becomes rigid, dry, and smooth and may become 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 collagen 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. Additional symptoms may also include inflammation of the lungs (interstitial pneumonitis), difficulty breathing, coughing, extreme sensitivity to cold that is most often felt in the fingers caused by narrowing of blood vessels in the fingers (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 progressive connective tissue disorder characterized by inflammatory and degenerative changes of the muscles and of the skin. In many cases, a skin rash may precede the development of muscle abnormalities by more than one year. In some cases, the severity of muscle and skin abnormalities may coincide; in other cases, they have no relationship. The symptoms and physical findings of dermatomyositis vary widely from case to case. Muscle abnormalities may begin with aches and weakness of the muscles of the upper arms and legs (proximal muscles). Muscles may be stiff, sore, and tender and, eventually, show signs of degeneration (atrophy). Affected individuals may experience difficulty in performing certain functions such as raising their arms and/or climbing stairs. In addition, affected individuals may experience speech and swallowing difficulties. Skin abnormalities associated with dermatomyositis typically include a reddish-purple rash on the upper eyelids (Heliotrope rash); reddish-purple, horn-like growths on the surface of the knuckles, elbows, and/or knees (Gottron's sign); and/or a red rash (erythema) affecting the skin of the face, neck, and/or upper torso. Although the exact cause of dermatomyositis is unknown, it is thought to be an autoimmune disorder. (For more information on this disorder, choose "Dermatomyositis" as your search term in the Rare Disease Database.)

Sjögren's syndrome is a rare autoimmune disorder that is characterized by the degeneration of mucous-secreting glands, particularly those of the eyes and mouth. Sjögren'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. Sjögren's syndrome primarily affects women. Additional symptoms may include muscle pain and arthritis along with mucous membrane symptoms. (For more information on this disorder, choose "Sjögren" 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 due to constriction of blood vessels (Raynaud Phenomenon), swollen hands, fatigue, and/or 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 common symptoms associated with MCTD. These rashes may be similar to the rashes found in individuals with lupus. (For more information on this disorder, choose "Mixed Connective Tissue Disease" as your search term in the Rare Disease Database.)

Standard Therapies

Diagnosis
The diagnosis of lupus may be suspected based upon a thorough clinical evaluation, characteristic physical findings, a detailed patient history, and specialized laboratory tests. These tests may include the antinuclear antibody (ANA) test, anti-DNA, anti-SM, anti-RNP, anti-Ro (SSA), and anti-La (SSB). A blood test should be taken, including a complete blood count, erythrocyte sedimentation rate (ESR), and blood chemistries. Individuals with lupus often have low complement levels. Therefore, their complement levels should be tested. A urinalysis should be administered to test for increased levels of protein in the urine (proteinuria). A chronic false positive blood test for syphilis is common in individuals with lupus. Surgical removal and microscopic examination of tissue (biopsy) of the skin or kidney may also be necessary.

Individuals with a discoid lupus erythematosus should receive a full clinical examination to determine whether the disorder is occurring by itself or whether it is the initial symptom of systemic lupus erythematosus.

A free lupus brochure is available that can help to alert people to the signs and symptoms of lupus. For a brochure, write to Lupus Foundation of America, Inc. listed in the resources section of this report.

Treatment
Certain symptoms of lupus such as joint pain, fever, and swelling often respond to aspirin, ibuprofen, or other nonsteroidal anti-inflammatory drugs (NSAIDs). Low doses of anti-malarial drugs such as hydorxychloroquine (Plaquenil), chloroquine (Aralen), and quinacrine (Atabrine) are used to treat skin rashes, fatigue, joint pain, and inflammation of the lungs. Plaquenil is the most commonly used of the anti-malarial medications. Although extremely rare, and usually occurring in unusually high doses (i.e, greater than 400mg), the use of Plaquenil and other anti-malarial drugs may cause retinal problems and visual abnormalities.

The treatment of lupus consists of the administration of corticosteroid drugs. Prednisone or its equivalents 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 affected individuals response to these medications, possible side effects and duration of use. Additional corticosteroid drugs used as a treatment for lupus include: hydrocortisone, methylprednisolone (Medrol), and dexamethasone (Decadron or Hexadrol).

Corticosteroid creams and lotions may effectively control some rashes and skin irritations that are associated with 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.

Some affected individuals are photosensitive and should avoid overexposure to ultraviolet light. This includes exposure to direct sunlight. Oral contraceptives and hormone replacement therapy should be discussed with the physician before taking them. Studies are not conclusive regarding estrogen containing contraceptives.

Individuals with discoid lupus erythematosus are often treated with anti-malarial drugs and topical injections. In severe cases, individuals with DLE may receive treatment with corticosteroids. Individuals with DLE should limit expose to the sun and take proper precautions (e.g., wearing sunscreen) when out in sunlight.

Drug-induced lupus erythematosus usually responds favorably when individuals stop taking the drug that caused the development of lupus.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources,contact:
www.centerwatch.com

Lupus Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

References

TEXTBOOKS
Beers MH, Berkow R, eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:426-30.

Lahita, RG. Systemic Lupus Erythematous, 3rd ed. Academic Press; 1999: 930.
Kanski JJ, ed. Clinical Ophthalmology, 4th ed. Woburn, MA: Butterworth-Heinemann; 1999:123.

Fauci AS, et al., eds. Harrison's Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:1874-80.

Bennett JC, Plum F, eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1475-83.

Frank MM, et al. Samter's Immunologic Diseases, 5th ed. Boston, MA: Little, Brown and Company; 1995:667-97.

Yamada T, et al., eds. Textbook of Gastroenterology. 2nd ed. Philadelphia, PA: J.B. Lippincott Company; 1995:2425.

Wallace, DJ. The Lupus Book. Oxford University Press; 1995: 232.

Hoffman R, et al., eds. Hematology Basic Principles and Practice, 2nd ed. New York, NY: Churchill-Livingstone, Inc; 1995:1854.

Kelley WN, et al., eds. Textbook of Rheumatology. 4th ed. Philadelphia, PA: W.B. Saunders Company; 1993:999-1056.

Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:2188-225.

JOURNAL ARTICLES
Wimmershoff MB, et al. Discoid lupus erythematous and lupus profundus in childhood: a report of two cases. Pediatr Dermatol. 2003;20:140-5.

Kaplan M, Eculizumab (Alexion). Curr Opin Investig Drugs. 2002;3:1017-23.

Tsao BP. An update on genetic studies of systemic lupus erythematosus. Curr Rheumatol Rep. 2002;4:359-67.

Barbano G, et al. Childhood-onset lupus nephritis: a single-center experience of pulse intravenous cyclophosphamide therapy. J Nephrol. 2002;15:123-9.

Mok CC, Lai KN. Mycophenolate mofetil in lupus glomerulonephritis. Am J Kidney Dis. 2002;40:447-57.

Gescuk BD, Davis Jr. JC. Novel therapeutic agents for systemic lupus erythematosus. Curr Opin Rheumatol. 2002;14:515-21.

Rozzo SJ, et al. Evidence for an interferon-inducible gene, Ifi202, in the susceptibility to systemic lupus. Immunity. 2001;15:435-43.

Davidson A, et al. Advances in immunology: autoimmune diseases. N Engl J Med. 2001;345:340-50.

Kyriakis KP, et al. Experience with low-dose thalidomide therapy in chronic discoid lupus erythematosus. Int J Dermatol. 2000;39:218-22.

Schlienger RG, et al. Minocycline-induced lupus. A systemic review. Dermatology. 2000;200:223-31.

Sperling LC, et al. Hair diseases. Med Clin North Am. 1998;82:1155-69.

Burt RK, et al. Hematopoietic stem-cell transplantation for systemic lupus erythematous. N Engl J Med. 1997;337:1777-78.

Roldan CA, et al. An echocardiographic study of valvular heart disease associated with sytemic lupus erythematosus. N Engl J Med. 1996;335:1424-30.

Rich MW. Drug-induced lupus. The list of culprits grows. Postgrad Med. 1996;100:299-302, 307-08.

Price EJ, et al. Drug-induced lupus. Drug Saf. 1995;12:283-90.

Mills JA. Medical progress: systemic lupus erythematosus. N Engl J Med. 1994;330:1871-79.

Pisetsky DS. Systemic lupus erythematous. Curr Opin Immunol. 1991;3:917-23.

Miller ML, et al. Treatment of systemic lupus erythematosus. Curr Opin Rheumatol. 1991;3:803-08.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/01/04 00:00:00 GMT+0

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