General Information
Symptoms and Causes
Diagnosis
Treatment
Self Care Info
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.
Typically, 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.
We know that many more women than men have lupus. Lupus is more common in African American women than in Caucasian women and is also more common in women of Hispanic, Asian, and Native American descent. African American and Hispanic women are also more likely to have active disease and serious organ system involvement. 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. 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.
Lupus is a complex disease, and its cause is not fully understood. Research suggests that genetics plays an important role, but it also shows that genes alone do not determine who gets lupus, and that other factors play a role. Some of the factors scientists are studying include sunlight, stress, hormones, cigarette smoke, certain drugs, and infectious agents such as viruses. Studies have confirmed that one virus, Epstein-Barr virus (EBV), which causes mononucleosis, is a cause of lupus in genetically susceptible people.
Scientists believe there is no single gene that predisposes people to lupus. Rather, studies suggest that a number of 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.
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.
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 and other areas exposed to the sun. Because many people with lupus are sensitive to sunlight (called photosensitivity), skin rashes often first develop or worsen after sun exposure.
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.
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 you truly have 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 confirm a diagnosis of lupus or rule out other causes for a person's symptoms. 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 and other autoimmune diseases. Occasionally, it is also found 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.
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 test (a test to measure inflammation) can provide valuable information. Another common test measures the blood level of a group of substances called complement, which help antibodies fight invaders. A low level of complement could mean the substance is being used up because of an immune response in the body, such as that which occurs during a flare of lupus.
Diagnosing and treating lupus often require a team effort between the patient and several types of health care professionals. Most people will see a rheumatologist for their lupus treatment. A rheumatologist is a doctor who specializes in rheumatic diseases (arthritis and 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), cardiologists (doctors specializing in the heart and blood vessels), hematologists (doctors specializing in blood disorders), endocrinologists (doctors specializing in problems related to the glands and hormones), dermatologists (doctors who treat skin disease), and neurologists (doctors specializing in disorders of the nervous system). It is also important for people with lupus to have a primary care doctor-usually a family physician or internist (internal medicine specialist)-who can coordinate care between their different health providers and treat other problems as they arise.
The range and effectiveness of treatments for lupus have increased dramatically in recent decades, giving doctors more choices in how to manage the disease. Medications used in the treatment of lupus include the following:1
1All medicines can have side effects. Some side effects may be more severe than others. You should review the package insert that comes with your medicine and ask your health care provider or pharmacist if you have any questions about the possible side effects.
NSAIDs: For people with joint or chest pain or fever, drugs that decrease inflammation, called nonsteroidal anti-inflammatory drugs (NSAIDs), are often used.2 Although 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.
2 Warning: Side effects of NSAIDs include stomach problems; skin rashes; high blood pressure; fluid retention; and liver, kidney, and heart problems. The longer a person uses NSAIDs, the more likely he or she is to have side effects, ranging from mild to serious. Many other drugs cannot be taken when a patient is being treated with NSAIDs, because NSAIDs alter the way the body uses or eliminates these other drugs. Check with your health care provider or pharmacist before you take NSAIDs. NSAIDs should only be used at the lowest dose possible for the shortest time needed.
Antimalarials: Antimalarials are another type of drug commonly used to treat lupus. These drugs prevent and treat malaria, but doctors have found that they also are useful for lupus. A common antimalarial used to treat lupus is hydroxychloroquine. 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.
Corticosteroids: Corticosteroids, such as prednisone, hydrocortisone, methylprednisolone, and dexamethasone, 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, by injection, or by intravenous (IV) infusion (dripping the drug into the vein through a small tube). Because they are potent drugs, the doctor will seek the lowest dose required to achieve the desired benefit.
In an effort to minimize side effects associated with corticosteroids, 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.
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 and mycophenolate mofetil, restrain the overactive immune system by blocking the production of immune cells. These drugs may be given by mouth or by IV infusion. The risk for side effects increases with the length of treatment.
BLyS-specific inhibitors: Belimumab, a type of agent referred to as a B-lymphocyte stimulator (BLyS) protein inhibitor, was approved by the U.S. Food and Drug Administration (FDA) in March 2011 for patients with lupus who are receiving other standard therapies, including those listed above. Given by IV infusion, belimumab may reduce the number of abnormal B cells thought to be a problem in lupus.
In studies conducted so far, African American patients and patients of African heritage did not appear to respond significantly to belimumab. An additional study of this patient population is planned to evaluate belimumab further in this subgroup of lupus patients. However, this difference in response to a treatment may be another indicator of the various ways that the disease affects different patients.
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. In addition to medications for lupus itself, in many cases it may be necessary to take additional medications to treat problems related to lupus such as high cholesterol, high blood pressure, or infection.
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.
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 allow 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.
People with lupus should also be aware of their increased risk of premature cardiovascular disease. This makes healthy lifestyle choices such as eating well, exercising regularly, and not smoking particularly important for people with lupus.
Staying healthy requires extra effort and care for people with lupus, so it becomes especially important to develop strategies for maintaining wellness. One of the primary goals of wellness for people with lupus is coping with the stress of having a chronic disorder. 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.
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.
Although pregnancy in women with lupus is considered high risk, NIAMS-supported research suggests that most women with mild to moderate lupus can expect to have healthy pregnancies. 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 several months before she becomes pregnant.
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.
For women with lupus who do not wish to become pregnant or who are taking drugs that could be harmful to an unborn baby, reliable birth control is important. Oral contraceptives (birth control pills) were once not an option for women with lupus because doctors feared the hormones in the pill would cause a flare of the disease. However, a large National Institutes of Health (NIH)-supported study called Safety of Estrogens in Lupus Erythematosus National Assessment (SELENA) found that severe flares were no more common among women with lupus taking oral contraceptives than those taking a placebo (inactive pill). As a result of this study, doctors are increasingly prescribing oral contraceptives to women with inactive or stable disease.
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, and why are cases in these groups often more severe? 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) has a major focus on lupus research in its on-campus program in Bethesda, Maryland. By evaluating patients with lupus and their relatives, researchers at the National Institutes of Health (NIH) are learning more about how lupus develops and changes over time.
The NIAMS also funds many lupus researchers across the United States. To help scientists gain new knowledge, the NIAMS sponsored the development of a Lupus Registry and Repository that gathers 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.
The NIAMS also helped establish a registry to collect information and blood samples from children affected by neonatal lupus and their mothers. Information from the registry forms the basis of family counseling and tracks important data such as recurrence rates in subsequent pregnancies. The hope is that the registry will facilitate improved methods of diagnosis, as well as prevention and treatment for this rare condition.
In 2003, the NIH established the Lupus Federal Working Group (LFWG), a collaboration among the NIH Institutes, other Federal agencies, voluntary and professional organizations, and industries with an interest in lupus. The Working Group is led by the NIAMS and includes representatives from all relevant U.S. Department of Health and Human Services (HHS) agencies and other Federal departments having an interest in lupus.
Following are some recent areas of NIAMS/NIH lupus research:
Genetics
Identifying genes that play a role in the development of lupus or lupus
severity is an important area of research.
Genome-wide association studies have identified a number of genetic variations associated with lupus, although the functions of identified variants and the contribution to the disease remain largely unknown. In most cases, lupus is thought to be caused by a combination of many genetic variations, each with modest effects. Recent studies, however, have pointed to the existence of rare variations with more substantial effects in certain subsets of lupus patients.
A number of genes associated with lupus risk and severity have been discovered. Some are linked to patient populations at high risk for lupus, including African American and Hispanic individuals.
Biomarkers
Biomarkers are another significant area of lupus research. Biomarkers
are defined as molecules that reflect a specific biological or
pathological process, consequence of a process, or a response to a
therapeutic intervention. Simply put, they can let the doctor know what
is happening in the body-or predict what is going to happen-based on
something reliably measurable in tissues, cells, or fluids.
NIAMS-supported researchers are seeking to identify biomarkers that
could be predictors of a flare in people with lupus.
The Disease Process
NIAMS-sponsored researchers are exploring possible triggers for lupus.
One study found that biofilms, protective coatings that some bacteria
develop, may be involved in the immune response leading to lupus.
Another study revealed that TREML4, a protein found on certain immune
cells, can cause the immune system to activate an inflammatory
response. These findings may lead to new targets for treatments.
Investigators continue to uncover the role of viruses, hormones, systemic inflammation, and other factors in the initiation of lupus and disease flares. They are also attempting to understand the biological basis for sex differences in immune and inflammatory systems that contribute to the sex differences in the disease.
Treatment
Understandably, identifying and developing better treatments for
lupus-and ensuring that patients receive the best treatments-are among
the primary goals of lupus research.
Earlier studies from the NIH Intramural Research Program determined that treatment with immunosuppressive drugs (cyclophosphamide and prednisone) can prevent or delay kidney failure caused by nephritis, one of the most serious and life-threatening complications of lupus. Other NIH-supported research has shown that lupus patients treated with hydroxychloroquine were less likely to develop severe kidney disease, had lower disease activity, and used less steroid medication.
Today, NIAMS intramural investigators are exploring how lupus develops and how therapies impact the course of the disease. Investigators are also conducting therapeutic trials to test the safety and efficacy of novel lupus treatments.
In 2014, the NIH, pharmaceutical companies, and nonprofit organizations together created the NIH Accelerating Medicines Partnership (AMP). The goal of the AMP is to increase the number of new diagnostics and therapies for select diseases, including lupus, and to reduce the time and cost of developing them.
-NIH
