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What is Lupus?

Lupus is a chronic, autoimmune disease. People with lupus have an overactive and misdirected immune system. Lupus is systemic, meaning that it affects a wide part of the body, including the joints, kidneys, skin, blood, brain and other organs.

Systemic lupus erythematosus (SLE) accounts for about 70 percent of all lupus cases. While SLE generally is considered the most serious form of lupus, cases range from very mild to severe. SLE affects various parts of the body and can cause joint pain, fatigue, hair loss, sensitivity to light, fever, rash and kidney problems.

Other types of lupus include:

  • Cutaneous lupus erythematosus. It affects the skin.
  • Drug-induced lupus. This is caused by the use of certain medications. Symptoms go away once the medicine is discontinued.
  • Neonatal lupus. This type affects babies of women who have lupus. It typically disappears after about 6 months.

Who’s Affected?

It is estimated that more than 1.5 million Americans have lupus. African American women are three times more likely than white women to have it. Hispanic, Asian and Native American women also have a higher incidence of lupus. People of all ages, races and sexes can get lupus, but 9 out of 10 adults with the disease are women between the ages of 15 and 45.

Lupus Symptoms

Lupus affects everyone differently. Some people have very mild and a slow worsening of symptoms, while some have quite severe and life-threatening symptoms that appear suddenly.

As with many autoimmune diseases, symptoms of lupus can come and go. Here are some of the common symptoms of lupus:

  • Joint pain. Inflammation caused by an overactive immune system can result in painful, swollen joints.
  • Rash. One of the hallmarks of lupus is a malar rash, a butterfly-shaped rash that spans the cheeks and bridge of the nose and may resemble sunburn. Lupus can also cause a scaly, disk-shaped rash on the face, neck, ears, scalp and/or chest.
  • Hair loss. Hair loss can be caused by lupus itself or by medications taken to treat it.
  • Sensitivity to light. Many people with lupus are photosensitive, meaning they are unusually sensitive to ultraviolet light from sunlight and artificial light. Lupus symptoms can worsen with exposure to sunlight, which can also cause rash, fatigue and headaches.
  • Fatigue. Everyone gets tired from time to time, but people with lupus may experience fatigue that doesn’t go away with rest.
  • Trouble breathing. People with lupus can have chest pain, shortness of breath and a stabbing pain in the chest upon breathing, coughing, laughing or sneezing. In some cases, these are symptoms of inflammation of the lining of the lungs (pleurisy) or the area surrounding the heart (pericarditis).
  • Kidney problems. One-third of people with lupus will develop nephritis or inflammation of the kidney. Lupus nephritis can cause high blood pressure, blood in the urine, frothy urine and swelling of the legs. However, lupus nephritis often has no symptoms, so it’s important to have regular urine tests for it.
  • Memory problems. Some people with lupus may have memory problems or confusion.
  • Mouth sores. Ulcers that form on the mucosal lining of the inside of the mouth are common in people with lupus. They are different from canker sores and are often painless.
  • Blood disorders. People with lupus frequently experience blood disorders, including anemia, low platelet count (thrombocytopenia), low white blood cell count (leukopenia) and blood clots (thrombosis). Uncontrolled thrombosis can lead to serious conditions such as stroke.

People with lupus may also have dryness in certain areas of the body caused by the lupus itself or another autoimmune condition called Sjögren’s syndrome, which can develop along with lupus. This can cause:

  • Vaginal dryness. Lubricating products and estrogen creams can help restore moisture and ease discomfort. Talk to a doctor about which products may be helpful.
  • Dry eyes and dry mouth. Sugar-free lemon drops and frequent sips of water can help dry mouth. Eye drops can help dry eyes. Medications may help with both conditions.

Lupus Causes

The cause of lupus is unknown. However, researchers believe that various environmental factors can trigger the disease in certain people who are predisposed to it. As with many diseases, genetics are an important piece of the puzzle. There is no single gene that makes people more likely to develop lupus. However, studies suggest that a number of different genes may increase a person’s likelihood of developing it, in addition to determining which tissues and organs are affected and the severity of disease. The Epstein-Barr virus (EBV), which causes mononucleosis, has been identified as a cause of lupus in people whose genes make them more likely to develop it. But genes alone don’t determine who gets the disease.

Researchers are exploring other contributing factors such as exposure to sunlight, stress, hormones, smoking and certain medications. Because lupus often strikes women during their childbearing years, scientists believe that hormones play an important role.

Studies show that regular or long-term exposure to certain insecticides may increase the risk of developing autoimmune diseases such as lupus.

Lupus Diagnosis

Diagnosing lupus can be a difficult and time-consuming process because its symptoms frequently mimic those of other diseases. Joint pain can be a sign of other forms of arthritis, while fatigue leads people to believe that they are simply stressed or overworked.

Because lupus symptoms wax and wane, it can be difficult for doctors to make a definite diagnosis. For example, while the butterfly rash often is considered the hallmark of lupus, many patients never experience it.

If a primary care doctor suspects lupus, he may provide a referral to a rheumatologist, a doctor who specializes in autoimmune diseases.

The rheumatologist will ask questions about symptoms, including how and when they started, if they come and go, how severe they are and if anything makes them better or worse. A physical examination will be done to thoroughly check the joints, skin, lungs, nerves and blood vessels.

Different laboratory tests are done to tests are ordered to rule out other conditions and help diagnose lupus. They include:

  • Complete blood count (CBC). A CBC checks the levels of red blood cells, white blood cells and platelets (blood cells that help to control bleeding and clotting).
  • Blood chemistry and urine tests. These can help determine whether organs, such as the kidneys and liver, are working properly.
  • Biopsy. A biopsy is the removal of a small piece of tissue from the affected area. For lupus, the sample is taken from a rash or from the kidney when symptoms are active. It can help definitively diagnose the disease.
  • Anti-nuclear antibody (ANA) blood test. This detects a group of proteins (called autoantibodies) found in the blood of people with lupus. While this test alone does not diagnose lupus, it can help confirm a diagnosis.
  • Antibody testing. If the ANA test is positive, the doctor may order other specific antibody tests. Antiphospholipid antibodies, including cardiolipin, are common in lupus. They are associated with an increased risk for blood clotting, strokes and recurrent miscarriages.
  • Complement proteins. This blood test measures the level of complement proteins in the blood. People with lupus often have reduced levels of complement, which can indicate active lupus.
  • Erythrocyte sedimentation rate (ESR, or “sed rate”) and C-reactive protein (CRP). Both of these levels are markers for inflammation. A high ESR or CRP combined with other signs of lupus can help make a diagnosis and assess disease activity.

Lupus Treatment

There is no cure for lupus. Treatment involves managing symptoms with a combination of medications and lifestyle changes.

Regular doctor's visits and laboratory tests are needed to determine how well treatment is working and to monitor any potential side effects. More frequent office visits and monitoring may be needed at first, or if disease activity remains high. Treatment for mild lupus might require monitoring every 6 to 12 months.

There following medications are used to prevent lupus flares and treat symptoms.

  • Nonsteroidal anti-inflammatory drugs (NSAIDs). Many people with lupus take NSAIDs to manage joint pain and swelling. NSAIDs such as aspirin, naproxen and ibuprofen can be purchased over the counter, but a prescription is needed for stronger ones.
  • Corticosteroids. Corticosteroids, such as prednisone, can be helpful in reducing inflammation. Sometimes steroids are used for a few weeks until other slower medications can become effective. Because of their many side effects, the lowest possible dose should be used for the shortest length of time. Usually a corticosteroid is given by mouth as a pill or liquid. However, some forms can be given as an injection into the joint or muscle, or as an IV into a vein. It is important to slowly stop (taper off) steroids instead of stopping them suddenly.
  • Disease-modifying antirheumatic drugs (DMARDs). DMARDs do more than just treat the symptoms of lupus. Research has shown that they can modify the course of the disease, prevent progression and slow joint damage. DMARDs are often used with NSAIDs. Hydroxychloriquine commonly is prescribed for people with lupus. It can cause vision changes in some people, so it is important to have regular vision examinations. Hydroxychloriquine is effective in preventing flares.
  • BLyS-specific inhibitors. Belimumab is one such drug. It was approved in 2011 as the first drug specifically for the treatment of lupus in 50 years. It suppresses autoantibodies in people with lupus. Although it has been shown to help some people with lupus, further research is needed to determine its long-term efficacy and safety.
  • Immunosuppressive agents/chemotherapy. In advanced cases of lupus, drugs like azathioprine, methotrexate and cyclophosphamide might be used to suppress the immune system. These types of therapies can help prevent organ damage; however, they do cause severe side effects as well as infertility in women. People on immunosuppressive therapies must be closely monitored by a doctor.

Diet and physical activity are also an important part of treatment. A balanced diet should be made up of fruits, vegetables and whole grains, as well as low-fat dairy and lean sources of protein. Look for foods high in omega-3s, which have been should to reduce inflammation.

Rest and physical activity are also important. When disease is active and joints are painful, swollen or stiff, it is important to rest to reduce inflammation and fatigue. When disease activity is low, however, it is very important to get regular exercise, which includes low-impact aerobic activity, muscle strengthening and flexibility exercises.

More on Lupus

Scientists Find Genetic Variants That Increase Lupus Risk

Results will help create treatments and diagnostic tests.
January 20, 2008 | By Arthritis Today Staff

Scientists have pinpointed a set of common variations in human DNA that signal a higher risk for lupus in women who carry them. Some of these variations are more common in relatives of lupus patients, which may help future studies examining whether lupus is more prevalent among certain racial and ethnic groups.

In the study – the largest of its kind to date – the International Consortium for Systemic Lupus Erythematosus (SLEGEN) looked at the genomes of 6,728 people. They found several variations, which they believe may be linked to as many as 67 percent of all lupus cases in women, located on various chromosomes in women of European ancestry. The variants helped to identify those who had up to twice the risk of getting lupus compared to those who did not have the variants.

The findings point to various drug targets important to the search for lupus treatments, according to the study’s authors. In addition, the study will help in the understanding of the causes of lupus and in the development of new genetic tests to find those most at risk for the disease,” says Jeffrey Edberg, PhD, an associate professor of medicine in the UAB Division of Clinical Immunology and Rheumatology and co-author on the study.

Using the data from the study, the researchers are developing further studies to determine if the same gene variants signal higher lupus risks in certain ethnic or racial groups. Also, the scientists are examining how these genetic pathways contribute to developing lupus.

This finding, published in an online issue of Nature Genetics, is one of three published by SLEGEN in the current issue of the journal underscoring the importance of genetic variants in diseases that affect immune function. Two other studies of lupus genetics were published in the New England Journal of Medicine and the journal Immunity.  These studies came weeks after the identification of a gene called TNFSF4, one of the first genetic risk factors for lupus.

First New Lupus Drug Approved in Decades

Benlysta is the first new lupus drug approved in more than 50 years and the first biologic to treat the autoimmune disease.
March 10, 2011 | By Jennifer Davis

For the first time in more than 50 years, the U.S. Food and Drug Administration (FDA) approved a new drug in 2011 to treat lupus, an autoimmune disease affecting as many as 1.5 million Americans.

Benlysta, or belimumab, is a biologic – the first to be approved and used for lupus. It’s an intravenous infusion that works to reduce the number of B cells that appear to be overactive in lupus patients.

The drug’s maker, Human Genome Sciences Inc., says the medication will be available by the end of March to patients with the painful and often difficult-to-treat disease.

Benlysta, when used with existing therapies, may be an important new treatment approach for health care professionals and patients looking to manage symptoms associated with this disease,” says Erica V. Jefferson, an FDA spokesperson. “The disease can be debilitating, negatively impacting a patient's everyday life and can also be fatal.”

The FDA says it based its approval on two clinical studies of more than 1,600 lupus patients. An FDA press release says those studies show patients taking Benlysta and standard therapies had less disease activity than those not getting the medication, and there were some signs the medicine may also have reduced severe lupus flares.

“The first study wasn’t impressive in terms of any significant improvement. A second study showed it was effective. I don’t think anyone thinks it’s curing lupus, but it gives you something in your arsenal of drugs to try,” says Robert Katz, MD, a rheumatologist at Rush University Medical Center in Chicago and chairman of the medical advisory board for the Illinois chapter of the Lupus Foundation.

“I think it will be effective and I think it’s nice to have it available. But I don’t think it will be that helpful for the most challenging patients. I base that on the first trials, which weren’t that positive,” Dr. Katz says.

The last drug the FDA approved to treat lupus is the antimalarial Plaquenil, or hydroxychloroquine, in 1955. Lupus patients may take corticosteroids, such as prednisone, other antimalarials, immunosuppressive drugs and nonsteroidal anti-inflammatory drugs. But these medications don’t always help lupus patients, and they can cause serious or unpleasant side effects. Dr. Katz says Benlysta won’t necessarily replace these medications, but it might reduce the amount patients have to take.

“You might still have to take prednisone every day, but maybe you can take less of it,” Dr. Katz explains.

Side effects of Benlysta include nausea, diarrhea and fever. Because 17 percent of the trial participants had reactions to the infusion including headache and skin reactions – not uncommon with biologic infusions – the FDA recommends that patients first get treated with an antihistamine.

There were indications that African-American patients didn’t respond as well to Benlysta as other patients, though the numbers weren’t definitive, so the drug maker will conduct a study to evaluate Benlysta’s effectiveness for African-Americans. The FDA estimates that lupus occurs three times as often in African-American women as Caucasian women.

There will be other studies on the drug as well. “Human Genome Sciences will be conducting an additional controlled trial to further evaluate safety concerns such as serious infections, death and depression. The (FDA) is also requiring Human Genome Sciences to conduct additional studies including a pregnancy registry, a study in children with lupus and a study of the effect of Benlysta on vaccinations,” Jefferson adds.

Dr. Katz says now that the drug is approved, there’s an opportunity to see it used in a wider spectrum of patients than were involved in the clinical trial and that will shed more light on its effectiveness as well. “All kinds of lupus patients will be given it, so we’ll have a better way of gauging it with sicker patients,” Dr. Katz explains.

Benlysta is expected to come with an average yearly price tag of $35,000 without insurance – which is similar to other biologic medications used to treat autoimmune diseases.