 | |  | |  | |  | |  |
SLE or lupus, as well as for their family and friends and others who want to better
understand the disease. The booklet describes the disease and its symptoms and
contains information about diagnosis and treatment as well as current research efforts
supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases
(NIAMS) and other components of the Department of Health and Human Services'
National Institutes of Health (NIH). It also discusses issues such as health care,
pregnancy, and quality of life for people with lupus. If you have further questions after
reading this booklet, you may wish to discuss them with your doctor.
Defining Lupus
Lupus is one of many disorders of the immune system known as autoimmune
diseases. In autoimmune diseases, the immune system turns against parts of the body
it is designed to protect. This leads to inflammation and damage to various body tissues.
Lupus can affect many parts of the body, including the joints, skin, kidneys, heart, lungs,
blood vessels, and brain. Although people with the disease may have many different
symptoms, some of the most common ones include extreme fatigue, painful or swollen
joints (arthritis), unexplained fever, skin rashes, and kidney problems.
At present, there is no cure for lupus. However, lupus can be effectively treated with
drugs, and most people with the disease can lead active, healthy lives. Lupus is
characterized by periods of illness, called flares, and periods of wellness, or remission.
Understanding how to prevent flares and how to treat them when they do occur helps
people with lupus maintain better health. Intense research is underway, and scientists
funded by the NIH are continuing to make great strides in understanding the disease,
which may ultimately lead to a cure.
Two of the major questions researchers are studying are who gets lupus and why. We
know that many more women than men have lupus. Lupus is three times more common
in African American women than in Caucasian women and is also more common in
women of Hispanic, Asian, and Native American descent. In addition, lupus can run in
families, but the risk that a child or a brother or sister of a patient will also have lupus is
still quite low. It is difficult to estimate how many people in the United States have the
disease because its symptoms vary widely and its onset is often hard to pinpoint.
Lupus can be effectively treated with drugs, and most people with the disease can lead
active, healthy lives.
There are several kinds of lupus:
Systemic lupus erythematosus (SLE) is the form of the disease that most people are
referring to when they say "lupus." The word "systemic" means the disease can affect
many parts of the body. The symptoms of SLE may be mild or serious. Although SLE
usually first affects people between the ages of 15 and 45 years, it can occur in
childhood or later in life as well. This booklet focuses on SLE.
Discoid lupus erythematosus is a chronic skin disorder in which a red, raised rash
appears on the face, scalp, or elsewhere. The raised areas may become thick and scaly
and may cause scarring. The rash may last for days or years and may recur. A small
percentage of people with discoid lupus have or develop SLE later.
Subacute cutaneous lupus erythematosus refers to skin lesions that appear on parts of
the body exposed to sun. The lesions do not cause scarring.
Drug-induced lupus is a form of lupus caused by medications. Many different drugs can
cause drug-induced lupus. Symptoms are similar to those of SLE (arthritis, rash, fever,
and chest pain) and they typically go away completely when the drug is stopped. The
kidneys and brain are rarely involved.
Neonatal lupus is a rare disease that can occur in newborn babies of women with SLE,
Sjögren's syndrome, or no disease at all. Scientists suspect that neonatal lupus is
caused by autoantibodies in the mother's blood called anti-Ro (SSA) and anti-La (SSB).
Autoantibodies ("auto" means self) are blood proteins that act against the body's own
parts. At birth, the babies have a skin rash, liver problems, and low blood counts. These
symptoms gradually go away over several months. In rare instances, babies with
neonatal lupus may have a serious heart problem that slows down the natural rhythm of
the heart. Neonatal lupus is rare, and most infants of mothers with SLE are entirely
healthy. All women who are pregnant and known to have anti-Ro (SSA) or anti-La (SSB)
antibodies should be monitored by echocardiograms (a test that monitors the heart and
surrounding blood vessels) during the 16th and 30th weeks of pregnancy.
It is important for women with SLE or other related autoimmune disorders to be under a
doctor's care during pregnancy. Physicians can now identify mothers at highest risk for
complications, allowing for prompt treatment of the infant at or before birth. SLE can also
flare during pregnancy, and prompt treatment can keep the mother healthier longer.
Understanding What Causes Lupus
Lupus is a complex disease, and its cause is unknown. It is likely that a combination of
genetic, environmental, and possibly hormonal factors work together to cause the
disease. Scientists are making progress in understanding lupus, as described here and
in the "Current Research" section of this booklet. The fact that lupus can run in families
indicates that its development has a genetic basis. Recent research suggests that
genetics plays an important role; however, no specific "lupus gene" has been identified
yet. Studies suggest that several different genes may be involved in determining a
person's likelihood of developing the disease, which tissues and organs are affected,
and the severity of disease. However, scientists believe that genes alone do not
determine who gets lupus and that other factors also play a role. Some of the factors
scientists are studying include sunlight, stress, certain drugs, and infectious agents
such as viruses.
It is likely that a combination of...factors work together to cause the disease.
In lupus, the body's immune system does not work as it should. A healthy immune
system produces proteins called antibodies and specific cells called lymphocytes that
help fight and destroy viruses, bacteria, and other foreign substances that invade the
body. In lupus, the immune system produces antibodies against the body's healthy cells
and tissues. These antibodies, called autoantibodies, contribute to the inflammation of
various parts of the body and can cause damage to organs and tissues. The most
common type of autoantibody that develops in people with lupus is called an antinuclear
antibody (ANA) because it reacts with parts of the cell's nucleus (command center).
Doctors and scientists do not yet understand all of the factors that cause inflammation
and tissue damage in lupus, and researchers are actively exploring them.
Symptoms of Lupus
Each person with lupus has slightly different symptoms that can range from mild to
severe and may come and go over time. However, some of the most common symptoms
of lupus include painful or swollen joints (arthritis), unexplained fever, and extreme
fatigue. A characteristic red skin rash-the so-called butterfly or malar rash-may appear
across the nose and cheeks. Rashes may also occur on the face and ears, upper arms,
shoulders, chest, and hands. Because many people with lupus are sensitive to sunlight
(called photosensitivity), skin rashes often first develop or worsen after sun exposure.
Common Symptoms of Lupus
Painful or swollen joints and muscle pain
Unexplained fever
Red rashes, most commonly on the face
Chest pain upon deep breathing
Unusual loss of hair
Pale or purple fingers or toes from cold or stress (Raynaud's phenomenon)
Sensitivity to the sun
Swelling (edema) in legs or around eyes
Mouth ulcers
Swollen glands
Extreme fatigue
Symptoms can range from mild to severe and may come and go over time.
Other symptoms of lupus include chest pain, hair loss, anemia (a decrease in red blood
cells), mouth ulcers, and pale or purple fingers and toes from cold and stress. Some
people also experience headaches, dizziness, depression, confusion, or seizures. New
symptoms may continue to appear years after the initial diagnosis, and different
symptoms can occur at different times. In some people with lupus, only one system of
the body, such as the skin or joints, is affected. Other people experience symptoms in
many parts of their body. Just how seriously a body system is affected varies from
person to person. The following systems in the body also can be affected by lupus.
Kidneys: Inflammation of the kidneys (nephritis) can impair their ability to get rid of waste
products and other toxins from the body effectively. There is usually no pain associated
with kidney involvement, although some patients may notice swelling in their ankles.
Most often, the only indication of kidney disease is an abnormal urine or blood test.
Because the kidneys are so important to overall health, lupus affecting the kidneys
generally requires intensive drug treatment to prevent permanent damage.
Lungs: Some people with lupus develop pleuritis, an inflammation of the lining of the
chest cavity that causes chest pain, particularly with breathing. Patients with lupus also
may get pneumonia.
Central nervous system: In some patients, lupus affects the brain or central nervous
system. This can cause headaches, dizziness, memory disturbances, vision problems,
seizures, stroke, or changes in behavior.
Blood vessels: Blood vessels may become inflamed (vasculitis), affecting the way blood
circulates through the body. The inflammation may be mild and may not require
treatment or may be severe and require immediate attention.
Blood: People with lupus may develop anemia, leukopenia (a decreased number of
white blood cells), or thrombocytopenia (a decrease in the number of platelets in the
blood, which assist in clotting). Some people with lupus may have an increased risk for
blood clots.
Heart: In some people with lupus, inflammation can occur in the heart itself (myocarditis
and endocarditis) or the membrane that surrounds it (pericarditis), causing chest pains
or other symptoms. Lupus can also increase the risk of atherosclerosis (hardening of
the arteries).
Diagnosing Lupus
Diagnosing lupus can be difficult. It may take months or even years for doctors to piece
together the symptoms to diagnose this complex disease accurately. Making a correct
diagnosis of lupus requires knowledge and awareness on the part of the doctor and
good communication on the part of the patient. Giving the doctor a complete, accurate
medical history (for example, what health problems you have had and for how long) is
critical to the process of diagnosis. This information, along with a physical examination
and the results of laboratory tests, helps the doctor consider other diseases that may
mimic lupus, or determine if the patient truly has the disease. Reaching a diagnosis may
take time as new symptoms appear.
No single test can determine whether a person has lupus, but several laboratory tests
may help the doctor to make a diagnosis. The most useful tests identify certain
autoantibodies often present in the blood of people with lupus. For example, the
antinuclear antibody (ANA) test is commonly used to look for autoantibodies that react
against components of the nucleus, or "command center," of the body's cells. Most
people with lupus test positive for ANA; however, there are a number of other causes of a
positive ANA besides lupus, including infections, other autoimmune diseases, and
occasionally as a finding in healthy people. The ANA test simply provides another clue for
the doctor to consider in making a diagnosis. In addition, there are blood tests for
individual types of autoantibodies that are more specific to people with lupus, although
not all people with lupus test positive for these and not all people with these antibodies
have lupus. These antibodies include anti-DNA, anti-Sm, anti-RNP, anti-Ro (SSA), and
anti-La (SSB). The doctor may use these antibody tests to help make a diagnosis of
lupus.
It may take months or even years for doctors to piece together the symptoms to
accurately diagnose this complex disease.
Some tests are used less frequently but may be helpful if the cause of a person's
symptoms remains unclear. The doctor may order a biopsy of the skin or kidneys if those
body systems are affected. Some doctors may order a test for anticardiolipin (or
antiphospholipid) antibody. The presence of this antibody may indicate increased risk for
blood clotting and increased risk for miscarriage in pregnant women with lupus. Again,
all these tests merely serve as tools to give the doctor clues and information in making a
diagnosis. The doctor will look at the entire picture-medical history, symptoms, and test
results-to determine if a person has lupus.
Other laboratory tests are used to monitor the progress of the disease once it has been
diagnosed. A complete blood count, urinalysis, blood chemistries, and the erythrocyte
sedimentation rate (ESR) test can provide valuable information. Another common test
measures the blood level of a group of substances called complement. People with
lupus often have increased ESRs and low complement levels, especially during flares of
the disease. X rays and other imaging tests can help doctors see the organs affected by
SLE.
Diagnostic Tools for Lupus
Medical history
Complete physical examination
Laboratory tests:
Complete blood count (CBC)
Erythrocyte sedimentation rate (ESR)
Urinalysis
Blood chemistries
Complement levels
Antinuclear antibody test (ANA)
Other autoantibody tests (anti-DNA, anti-Sm, anti-RNP, anti-Ro [SSA], anti-La [SSB])
Anticardiolipin antibody test
Skin biopsy
Kidney biopsy
Treating Lupus
Diagnosing and treating lupus are often a team effort between the patient and several
types of health care professionals. A person with lupus can go to his or her family doctor
or internist, or can visit a rheumatologist. A rheumatologist is a doctor who specializes in
rheumatic diseases (arthritis and other inflammatory disorders, often involving the
immune system). Clinical immunologists (doctors specializing in immune system
disorders) may also treat people with lupus. As treatment progresses, other
professionals often help. These may include nurses, psychologists, social workers,
nephrologists (doctors who treat kidney disease), hematologists (doctors specializing in
blood disorders), dermatologists (doctors who treat skin disease), and neurologists
(doctors specializing in disorders of the nervous system).
Treatment plans are tailored to the individual's needs and may change over time.
The range and effectiveness of treatments for lupus have increased dramatically, giving
doctors more choices in how to manage the disease. It is important for the patient to
work closely with the doctor and take an active role in managing the disease. Once lupus
has been diagnosed, the doctor will develop a treatment plan based on the patient's age,
sex, health, symptoms, and lifestyle. Treatment plans are tailored to the individual's
needs and may change over time. In developing a treatment plan, the doctor has several
goals: to prevent flares, to treat them when they do occur, and to minimize organ damage
and complications. The doctor and patient should reevaluate the plan regularly to ensure
it is as effective as possible.
NSAIDs: For people with joint or chest pain or fever, drugs that decrease inflammation,
called nonsteroidal anti-inflammatory drugs (NSAIDs), are often used. While some
NSAIDs, such as ibuprofen and naproxen, are available over the counter, a doctor's
prescription is necessary for others. NSAIDs may be used alone or in combination with
other types of drugs to control pain, swelling, and fever. Even though some NSAIDs may
be purchased without a prescription, it is important that they be taken under a doctor's
direction. Common side effects of NSAIDs can include stomach upset, heartburn,
diarrhea, and fluid retention. Some people with lupus also develop liver, kidney, or even
neurological complications, making it especially important to stay in close contact with
the doctor while taking these medications.
Antimalarials: Antimalarials are another type of drug commonly used to treat lupus.
These drugs were originally used to treat malaria, but doctors have found that they also
are useful for lupus. A common antimalarial used to treat lupus is hydroxychloroquine
(Plaquenil)*. It may be used alone or in combination with other drugs and generally is
used to treat fatigue, joint pain, skin rashes, and inflammation of the lungs. Clinical
studies have found that continuous treatment with antimalarials may prevent flares from
recurring. Side effects of anti-malarials can include stomach upset and, extremely rarely,
damage to the retina of the eye.
* Brand names included in this publication are provided as examples only, and their
inclusion does not mean that these products are endorsed by the National Institutes of
Health or any other Government agency. Also, if a particular brand name is not
mentioned, this does not mean or imply that the product is unsatisfactory.
Corticosteroids: The mainstay of lupus treatment involves the use of corticosteroid
hormones, such as prednisone (Deltasone), hydrocortisone, methylprednisolone
(Medrol), and dexamethasone (Decadron, Hexadrol). Corticosteroids are related to
cortisol, which is a natural anti-inflammatory hormone. They work by rapidly suppressing
inflammation. Corticosteroids can be given by mouth, in creams applied to the skin, or by
injection. Because they are potent drugs, the doctor will seek the lowest dose with the
greatest benefit. Short-term side effects of corticosteroids include swelling, increased
appetite, and weight gain. These side effects generally stop when the drug is stopped. It
is dangerous to stop taking corticosteroids suddenly, so it is very important that the
doctor and patient work together in changing the corticosteroid dose. Sometimes doctors
give very large amounts of corticosteroid by vein over a brief period of time (days) ("bolus"
or "pulse" therapy). With this treatment, the typical side effects are less likely and slow
withdrawal is unnecessary.
Long-term side effects of corticosteroids can include stretch marks on the skin,
weakened or damaged bones (osteoporosis and osteonecrosis), high blood pressure,
damage to the arteries, high blood sugar (diabetes), infections, and cataracts. Typically,
the higher the dose and the longer they are taken, the greater the risk and severity of side
effects. Researchers are working to develop ways to limit or offset the use of
corticosteroids. For example, corticosteroids may be used in combination with other,
less potent drugs, or the doctor may try to slowly decrease the dose once the disease is
under control. People with lupus who are using corticosteroids should talk to their
doctors about taking supplemental calcium and vitamin D or other drugs to reduce the
risk of osteoporosis (weakened, fragile bones).
It is dangerous to stop taking corticosteroids suddenly, so it is very important that the
doctor and patient work together in changing the dose.
Immunosuppressives: For some patients whose kidneys or central nervous systems are
affected by lupus, a type of drug called an immunosuppressive may be used.
Immunosuppressives, such as cyclophosphamide (Cytoxan) and mycophenolate mofetil
(CellCept), restrain the overactive immune system by blocking the production of immune
cells. These drugs may be given by mouth or by infusion (dripping the drug into the vein
through a small tube). Side effects may include nausea, vomiting, hair loss, bladder
problems, decreased fertility, and increased risk of cancer and infection. The risk for side
effects increases with the length of treatment. As with other treatments for lupus, there is
a risk of relapse after the immunosuppressives have been stopped.
Other Therapies: In some patients, methotrexate (Folex, Mexate, Rheumatrex), a
disease-modifying antirheumatic drug, may be used to help control the disease. Working
closely with the doctor helps ensure that treatments for lupus are as successful as
possible. Because some treatments may cause harmful side effects, it is important to
report any new symptoms to the doctor promptly. It is also important not to stop or
change treatments without talking to the doctor first.
Alternative and Complementary Therapies: Because of the nature and cost of the
medications used to treat lupus and the potential for serious side effects, many patients
seek other ways of treating the disease. Some alternative approaches people have tried
include special diets, nutritional supplements, fish oils, ointments and creams,
chiropractic treatment, and homeopathy. Although these methods may not be harmful in
and of themselves, and may be associated with symptomatic or psychosocial benefit, no
research to date shows that they affect the disease process or prevent organ damage.
Some alternative or complementary approaches may help the patient cope or reduce
some of the stress associated with living with a chronic illness. If the doctor feels the
approach has value and will not be harmful, it can be incorporated into the patient's
treatment plan. However, it is important not to neglect regular health care or treatment of
serious symptoms. An open dialogue between the patient and physician about the
relative values of complementary and alternative therapies allows the patient to make an
informed choice about treatment options.
Because some treatments may cause harmful side effects...report any new symptoms to
the doctor promptly.
Lupus and Quality of Life
Despite the symptoms of lupus and the potential side-effects of treatment, people with
lupus can maintain a high quality of life overall. One key to managing lupus is to
understand the disease and its impact. Learning to recognize the warning signs of a
flare can help the patient take steps to ward it off or reduce its intensity. Many people with
lupus experience increased fatigue, pain, a rash, fever, abdominal discomfort,
headache, or dizziness just before a flare. Developing strategies to prevent flares can
also be helpful, such as learning to recognize your warning signals and maintaining
good communication with your doctor.
It is also important for people with lupus to receive regular health care, instead of
seeking help only when symptoms worsen. Results from a medical exam and laboratory
work on a regular basis allows the doctor to note any changes and to identify and treat
flares early. The treatment plan, which is tailored to the individual's specific needs and
circumstances, can be adjusted accordingly. If new symptoms are identified early,
treatments may be more effective. Other concerns also can be addressed at regular
checkups. The doctor can provide guidance about such issues as the use of
sunscreens, stress reduction, and the importance of structured exercise and rest, as
well as birth control and family planning. Because people with lupus can be more
susceptible to infections, the doctor may recommend yearly influenza vaccinations or
pneumococcal vaccinations for some patients.
Women with lupus should receive regular preventive health care, such as gynecological
and breast examinations. Men with lupus should have the prostate-specific antigen
(PSA) test. Both men and women need to have their blood pressure and cholesterol
checked on a regular basis. If a person is taking corticosteroids or antimalarial
medications, an eye exam should be done at least yearly to screen for and treat eye
problems.
Learning to recognize the warning signs of a flare can help the patient take steps to ward
it off or reduce its intensity.
Staying healthy requires extra effort and care for people with lupus, so it becomes
especially important to develop strategies for maintaining wellness. Wellness involves
close attention to the body, mind, and spirit. One of the primary goals of wellness for
people with lupus is coping with the stress of having a chronic disorder. Effective stress
management varies from person to person. Some approaches that may help include
exercise, relaxation techniques such as meditation, and setting priorities for spending
time and energy.
Developing and maintaining a good support system is also important. A support system
may include family, friends, medical professionals, community organizations, and
support groups. Participating in a support group can provide emotional help, boost
self-esteem and morale, and help develop or improve coping skills. (For more
information on support groups, see the "Additional Resources" section at the end of this
booklet.)
Warning Signs of a Flare
Increased fatigue
Pain
Rash
Fever
Abdominal discomfort
Headache
Dizziness
Preventing a Flare
Learn to recognize your warning signals
Maintain good communication with your doctor
Learning more about lupus may also help. Studies have shown that patients who are
well-informed and participate actively in their own care experience less pain, make fewer
visits to the doctor, build self-confidence, and remain more active.
Tips for Working With Your Doctor
Seek a health care provider who is familiar with SLE and who will listen to and address
your concerns.
Provide complete, accurate medical information.
Make a list of your questions and concerns in advance.
Be honest and share your point of view with the health care provider.
Ask for clarification or further explanation if you need it.
Talk to other members of the health care team, such as nurses, therapists, or
pharmacists.
Do not hesitate to discuss sensitive subjects (for example, birth control, intimacy) with
your doctor.
Discuss any treatment changes with your doctor before making them.
Pregnancy For Women With Lupus
Although a lupus pregnancy is considered high risk, most women with lupus carry their
babies safely to the end of their pregnancy. Women with lupus have a higher rate of
miscarriage and premature births compared with the general population. In addition,
women who have antiphospholipid antibodies are at a greater risk of miscarriage in the
second trimester because of their increased risk of blood clotting in the placenta. Lupus
patients with a history of kidney disease have a higher risk of preeclampsia
(hypertension with a buildup of excess watery fluid in cells or tissues of the body).
Pregnancy counseling and planning before pregnancy are important. Ideally, a woman
should have no signs or symptoms of lupus and be taking no medications for at least 6
months before she becomes pregnant.
Pregnancy counseling and planning before pregnancy are important.
Some women may experience a mild to moderate flare during or after their pregnancy;
others do not. Pregnant women with lupus, especially those taking corticosteroids, also
are more likely to develop high blood pressure, diabetes, hyperglycemia (high blood
sugar), and kidney complications, so regular care and good nutrition during pregnancy
are essential. It is also advisable to have access to a neonatal (newborn) intensive care
unit at the time of delivery in case the baby requires special medical attention.
Current Research
Lupus is the focus of intense research as scientists try to determine what causes the
disease and how it can best be treated. Some of the questions they are working to
answer include: Why are women more likely than men to have the disease? Why are
there more cases of lupus in some racial and ethnic groups? What goes wrong in the
immune system, and why? How can we correct the way the immune system functions
once something goes wrong? What treatment approaches will work best to lessen lupus
symptoms? How do we cure lupus?
To help answer these questions, scientists are developing new and better ways to study
the disease. They are doing laboratory studies that compare various aspects of the
immune systems of people with lupus with those of other people both with and without
lupus. They also use mice with disorders resembling lupus to better understand the
abnormalities of the immune system that occur in lupus and to identify possible new
therapies.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a
component of the Department of Health and Human Services' National Institutes of
Health (NIH), has a major focus on lupus research in its on campus program in
Bethesda, Maryland. By evaluating patients with lupus and their relatives, researchers
oncampus are learning more about how lupus develops and changes over time. The
NIAMS also funds many lupus researchers across the United States. Some of these
researchers are studying the genetic factors that increase a person's risk for developing
lupus. To help scientists gain new knowledge, the NIAMS also has established
Specialized Centers of Research devoted specifically to lupus research. In addition, the
NIAMS is funding lupus registries that gather medical information as well as blood and
tissue samples from patients and their relatives. This gives researchers across the
country access to information and materials they can use to help identify genes that
determine susceptibility to the disease.
Scientists are developing new and better ways to study the disease.
Identifying genes that play a role in the development of lupus is an active area of
research. For example, researchers suspect that a genetic defect in a cellular process
called apoptosis, or "programmed cell death," exists in people with lupus. Apoptosis is
similar to the process that causes leaves to turn color in autumn and fall from trees; it
allows the body to eliminate cells that have fulfilled their function and typically need to be
replaced. If there is a problem in the apoptosis process, harmful cells may stay around
and do damage to the body's own tissues. For example, in a mutant mouse strain that
develops a lupus-like illness, one of the genes that controls apoptosis is defective.
When it is replaced by a normal gene, the mice no longer develop signs of the disease.
Scientists are studying what role genes involved in apoptosis may play in human
disease development.
Studying genes for complement, a series of proteins in the blood that play an important
part in the immune system, is another active area of lupus research. Complement acts
as a backup for antibodies, helping them destroy foreign substances that invade the
body. If there is a decrease in complement, the body is less able to fight or destroy
foreign substances. If these substances are not removed from the body, the immune
system may become overactive and begin to make autoantibodies.
Identifying genes that play a role in the development of lupus is an active area of
research.
Recent large studies of families with lupus have identified a number of genetic regions
that appear to be associated with risk of SLE. Although the specific genes and their
function remain unknown, intensive work in mapping the entire human genome offers
promise that these genes will be identified in the near future. This should provide
knowledge of the complex factors that contribute to lupus susceptibility.
NIAMS-funded researchers are uncovering the impact of genetic, socioeconomic, and
cultural factors on the course and outcome of lupus in Hispanics, African Americans, and
Caucasians. Preliminary data show that African American and Hispanic lupus patients
typically have more kidney damage compared with Caucasians. In addition,
NIAMS-funded researchers found that African American lupus patients have more skin
damage compared with Hispanics and Caucasians, and that the death rate from lupus
is higher in African Americans and Hispanics compared with Caucasians.
It is thought that autoimmune diseases, such as lupus, occur when a genetically
susceptible individual encounters an unknown environmental agent or trigger. In this
circumstance, an abnormal immune response can be initiated that leads to the signs
and symptoms of lupus. Research has focused on both the genetic susceptibility and
the environmental trigger. Although the environmental trigger remains unknown,
microbial agents such as Epstein-Barr virus and others have been considered.
Researchers also are studying other factors that may affect a person's susceptibility to
lupus. For example, because lupus is more common in women than in men, some
researchers are investigating the role of hormones and other male-female differences in
the development and course of the disease. A current study funded by the NIH is
focusing on the safety and effectiveness of oral contraceptives (birth-control pills) and
hormone replacement therapy in women with lupus. Doctors have worried about the
wisdom of prescribing oral contraceptives or estrogen replacement therapy for women
with lupus because of a widely held view that estrogens can make the disease worse.
Oral contraceptives and estrogen replacement therapy do not, as once feared, appear to
intensify lupus symptoms. Scientists do not know the effects of oral contraceptives on
women with antiphospholipid antibody syndrome.
Patients with lupus are at risk of developing atherosclerotic vascular disease (hardening
of the blood vessels that can cause heart attack, angina, or stroke). The increased risk is
due partly to having lupus and partly to steroid therapy. Preventing atherosclerotic
vascular disease in lupus patients is a new area of study. NIAMS-funded researchers
are studying the most effective ways to manage cardiovascular risk factors and prevent
cardiovascular disease in adult lupus patients.
In childhood lupus, researchers are evaluating the safety and effectiveness of drugs
called statins that lower LDL (or bad) cholesterol levels as a method of preventing fat
buildup in the blood vessels.
Research has focused on both the genetic susceptibility and the environmental trigger.
One out of five lupus patients experiences symptoms such as headaches, dizziness,
memory disturbances, stroke, or changes in behavior that result from changes in the
brain or other parts of the central nervous system. Such lupus patients have what is
called "neuropsychiatric" lupus. NIAMS-funded scientists are applying new tools such as
brain imaging techniques to discover cellular activity and specific genes that may cause
neuropsychiatric lupus. By uncovering the mechanisms responsible for central nervous
system damage in lupus patients, researchers hope to move closer to improved
diagnosis and treatment for patients with neuropsychiatric lupus.
Promising Areas of Research
Identifying lupus susceptibility genes
Searching for environmental agents that cause lupus
Developing drugs or biologic agents to treat lupus
Researchers are focusing on finding better treatments for lupus. A primary goal of this
research is to develop treatments that can effectively minimize the use of corticosteroids.
Scientists are trying to identify combination therapies that may be more effective than
single treatment approaches. Another goal is to improve the treatment and management
of lupus in the kidneys and central nervous system. For example, a 20- year study
supported by the NIAMS and the NIH found that combining cyclophosphamide with
prednisone helped delay or prevent kidney failure, a serious complication of lupus.
Scientists are using novel "biologic agents" to selectively block parts of the immune
system.
On the basis of new information about the disease process, scientists are using novel
"biologic agents" to selectively block parts of the immune system. Development and
testing of these new drugs, which are based on compounds that occur naturally in the
body, comprise an exciting and promising new area of lupus research. The hope is that
these treatments not only will be effective, but also will have fewer side effects.
Preliminary research suggests that white blood cells known as B cells may play a key
role in the development of lupus. Biologics that interfere with B cell function or block the
interactions of immune cells are active areas of research. These targeted treatments
hold promise because they have the advantage of reduced side effects and adverse
reactions compared with conventional therapies. Clinical trials are testing the safety and
effectiveness of rituximab (also called anti-CD20) in treating people with lupus.
Rituximab is a genetically engineered antibody that blocks the production of B cells.
Other treatment options currently being explored include reconstructing the immune
system by bone marrow transplantation. In the future, gene therapy also may play an
important role in lupus treatment.
Hope for the Future
With research advances and a better understanding of lupus, the prognosis for people
with lupus today is far brighter than it was even 20 years ago. It is possible to have lupus
and remain active and involved with life, family, and work. As current research efforts
unfold, there is continued hope for new treatments, improvements in quality of life, and,
ultimately, a way to prevent or cure the disease. The research efforts of today may yield
the answers of tomorrow, as scientists continue to unravel the mysteries of lupus.
Additional Resources
National Institute of Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse
NIAMS/National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
(301) 495-4484 or (877) 22-NIAMS (226-4267)(free of charge)
Fax: (301) 718-6366
TTY: (301) 565-2966
World Wide Web address: www.niams.nih.gov/
The National Institute of Arthritis and Musculoskeletal and Skin Diseases Information
Clearinghouse is a public service sponsored by the NIAMS that provides health
information and information sources. The clearinghouse provides information on lupus.
Fact sheets, additional information, and research updates can also be found on the
NIAMS Web site at www.niams.nih.gov.
Clinicaltrials.gov
The Department of Health and Human Services' National Institutes of Health, through its
National Library of Medicine, has developed ClinicalTrials.gov to provide patients, family
members, and members of the public current information about clinical research
studies. You can search for trials by disease, location, treatment, or by funding
organization at the Web site clinicaltrials.gov.
American College of Rheumatology
Association of Rheumatology Health Professionals
1800 Century Place, Suite 250
Atlanta, GA 30345
(404) 633-3777
Fax: (404) 633-1870
www.rheumatology.org
The American College of Rheumatology (ACR) is an organization of doctors and
associated health professionals who specialize in arthritis and related diseases of the
bones, joints, and muscles. The Association of Rheumatology Health Professionals, a
division of ACR, aims to enhance the knowledge and skills of rheumatology health
professionals and to promote their involvement in rheumatology research, education,
and quality patient care. The association also works to advance and promote basic and
continuing education in rheumatology for health professionals who provide care to
people with rheumatic diseases.
Alliance for Lupus Research, Inc.
28 West 44th Street, Suite 1217
New York, NY 10036
(212) 218-2840
(800) 867-1743 (free of charge)
www.lupusresearch.org
The Alliance for Lupus Research, Inc. (ALR), is a nonprofit organization devoted
exclusively to the support of promising research for the prevention, treatment, and cure of
lupus. Through accelerated, focused, goal-oriented research programs, the ALR aims to
promote basic and clinical sciences to achieve major advances leading to a better
understanding of the causes of lupus.
American Autoimmune Related Diseases Association
22100 Gratiot Avenue
Eastpointe
East Detroit, MI 48021-2227
(586) 776-3900
(800) 598-4668 (free of charge)
E-mail: aarda@aarda.org
www.aarda.org
The American Autoimmune Related Diseases Association (AARDA) is the only national
nonprofit voluntary health agency dedicated to bringing a national focus and collaborative
effort to the over 100 known autoimmune diseases through education, awareness,
research, and patient services. By collaborating with the National Coalition of
Autoimmune Patient Groups (NCAPG), AARDA supports legislative advocacy for
autoimmune disease patients. AARDA provides free patient education information,
physician and agency referrals, forums and symposia, and a quarterly newsletter.
Arthritis Foundation
1330 West Peachtree Street
Atlanta, GA 30309
(404) 872-7100
(800) 283-7800, or your local chapter (listed in the telephone directory)
www.arthritis.org
The Arthritis Foundation is the major voluntary organization devoted to supporting arthritis
research and providing educational and other services to individuals with arthritis. It
publishes free pamphlets and a magazine for members on all types of arthritis. It also
provides up-to-date information on research and treatment, nutrition, alternative
therapies, and self-management strategies for patients with lupus and other
autoimmune diseases. Chapters nationwide offer exercise programs, classes, support
groups, physician referral services, and free literature. For more information, call your
local chapter, listed in the white pages of the phone book, or contact the Arthritis
Foundation at the above address.
Lupus Clinical Trials Consortium, Inc. (LCTC)
47 Hulfish Street, Suite 442
Princeton, NJ 08540
(609) 921-1532
The LCTC is a nonprofit organization that encourages the identification and testing of
promising new therapies for lupus. It provides infrastructure support grants to certain
academic institutions to support their clinical research activities; encourages lupus
clinical researchers from those institutions to share their expertise; supports and
conducts educational efforts to show the need for lupus clinical research; and
disseminates scientific insights to advance the discovery of new lupus therapies.
Lupus Foundation of America (LFA), Inc.
2000 L Street, N.W., Suite 710
Washington, DC 20036
(202) 349-1155
(800) 558-0121
www.lupus.org
The LFA assists local chapters in providing services to people with lupus, works to
educate the public about lupus, and supports lupus research. Through a network of
more than 500 branches and support groups, the chapters provide education through
information and referral services, health fairs, newsletters, publications, and seminars.
Chapters provide support to people with lupus, their families, and friends through
support group meetings, hospital visits, and telephone help lines.
Rheuminations, Inc.
221 East 48th Street, Ground Floor
New York, NY 10017
(212) 593-5180
Fax: (212) 593-5181
www.dxlupus.org
Rheuminations, Inc. is a private, nonprofit foundation committed to funding excellence in
medical research to achieve a better understanding of the causes of lupus and to bring
new treatments to market; to educate and to empower those who live with lupus and
those who care for them; to establish a higher level of public awareness about the
disease.
SLE Foundation, Inc.
149 Madison Ave., Suite 205
New York, NY 10016
(212) 685-4118
www.lupusny.org
The foundation supports and encourages medical research to find the cause and cure of
lupus and improve its diagnosis and treatment. It also provides a wide variety of services
to help patients with lupus and their families. In addition, this voluntary organization
conducts a broad-based public education program to raise awareness of lupus and
increase understanding of this serious, chronic, autoimmune disease.
Acknowledgments
The NIAMS gratefully acknowledges the assistance of Jill P. Buyon, M.D., Hospital for
Joint Diseases, New York, New York; Patricia A. Fraser, M.D., Brigham and Women's
Hospital, Boston, Massachusetts; John H. Klippel, M.D., The Arthritis Foundation,
Washington, DC; Michael D. Lockshin, M.D., Barbara Volcker Center for Women and
Rheumatic Disease, Hospital for Special Surgery, New York, New York; Rosalind
Ramsey-Goldman, M.D., Dr.P.H., Northwestern University Medical School, Chicago,
Illinois; George Tsokos, M.D., Uniformed Services University of the Health Sciences,
Bethesda, Maryland; and Elizabeth Gretz, Ph.D., Barbara Mittleman, M.D., Susana
Serrate-Sztein, M.D., and Peter E. Lipsky, M.D., NIAMS, NIH, in the preparation and review
of this and earlier versions of this publication. Special thanks also go to the many
patients who reviewed this publication and provided valuable input. An earlier version of
this booklet was written by Debbie Novak of Johnson, Bassin, and Shaw, Inc.
The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part
of the Department of Health and Human Services' National Institutes of Health NIH),
leads the Federal medical research effort in arthritis and musculoskeletal and skin
diseases. The NIAMS supports research and research training throughout the United
States, as well as on the NIH campus in Bethesda, MD, and disseminates health and
research information. The National Institute of Arthritis and Musculoskeletal and Skin
Diseases Information Clearinghouse is a public service sponsored by the NIAMS that
provides health information and information sources. Additional information and
research updates can be found on the NIAMS Web site at www.niams.nih.gov.
U.S. Department of Health and Human Services
Public Health Service
National Institutes of Health
National Institute of Arthritis and Musculoskeletal and Skin Diseases
NIH Publication No. 03-4178
September 1997
Revised August 2003
