Systemic Lupus

When healthy, our immune system protects the body from germs and cancers. With lupus, the immune system misfires and attacks “self”, the patient’s own tissues, in a process called autoimmunity or “loss of self-tolerance”.

In lupus as the attack goes on, all the branches of the immune system join the fight. This leads to significant and intense inflammation. The cause of lupus is unknown, as well as what drives its diverse presentation. We know that multiple factors are required, including: the “right” genetic makeup, environmental exposures and organ specific characteristics. People with lupus may also have an impaired process for clearing old and damaged cells from the body, which in turn provides continuous stimuli to the immune system and leads to abnormal immune response.

Most often, lupus starts in young females in their fertility age, although it can sometimes start during childhood (see section on Childhood-onset lupus below). The disease is more common in some ethnic groups, mainly blacks and Asians, and tends to be worse in these groups.

About 20% of people with lupus develop the disease as children or teens. When lupus starts in childhood, it is called childhood-onset SLE, or cSLE. It is rare to get lupus before age 5 years.

Lupus can be hard to detect because it is a complex disease that has many symptoms, and they can come on slowly. As experts in diagnosing and treating autoimmune diseases such as lupus, rheumatologists can best determine whether a patient has lupus and advise them about treatment options.

People with lupus often have symptoms that are not specific to lupus. These include fever, fatigue, weight loss, blood clots and hair loss. They may also have heartburn, stomach pain and poor circulation to the fingers and toes. Pregnant women can have miscarriages. Lupus can flare during pregnancy and can affect its outcome.

The American College of Rheumatology has a list of symptoms and other measures that doctors can use as a guide to decide if a patient with symptoms has lupus.

• Rashes:
  • butterfly-shaped rash over the cheeks – referred to as malar rash
  • red rash with raised round or oval patches – known as discoid rash
  • rash on skin exposed to the sun
• Mouth sores: sores in the mouth or nose lasting from a few days to more than a month
• Arthritis: tenderness and swelling lasting for a few weeks in two or more joints
• Lung or heart inflammation: swelling of the tissue lining the lungs (referred to as pleurisy or pleuritis) or the heart (pericarditis), which can cause chest pain when breathing deeply
• Kidney problem: blood or protein in the urine, or tests that suggest poor kidney function
• Neurologic problem: seizures, strokes or psychosis (a mental health problem)
• Abnormal blood tests such as:
  • low blood cell counts: anemia, low white blood cells, or low platelets
  • positive antinuclear antibodies (ANA) result: antibodies that can cause the body to begin attacking itself that are present in nearly all lupus patients
  • certain abnormal antibodies: anti-double-strand DNA (called anti-dsDNA), anti-Smith (referred to as anti-Sm), or antiphospholipid antibodies

If your doctor suspects you have lupus based on your symptoms, a series of blood tests will be done in order to confirm the diagnosis. The most important blood screening test is ANA. If ANA is negative, you don’t have lupus. However, if ANA is positive, you might have lupus and will need more specific tests. These blood tests include antibodies to anti-dsDNA and anti-Sm, which are specific to the diagnosis of lupus.

The presence of antiphospholipid antibodies signals a raised risk for certain complications such as miscarriage or blood clots.Doctors also may measure levels of certain complement proteins (a part of the immune system) in the blood, to help detect the disease and follow its progress.

There is no cure for lupus, as it is a chronic disease. The treatment goals are to suppress the overactive immune system and ultimately induce remission and prevent permanent organ damage. The types of medications required will depend on the symptoms.

Treating cSLE requires close monitoring by a rheumatology team experienced in caring for children with lupus. The team may include doctors (pediatric rheumatologists and other specialists), nurse practitioners, physician assistants, nurses, social workers, counselors, and physical and/or occupational therapists. They will partner with the family, schools and other community resources to provide a child or teen with the best care for preserving physical and psychological health.

Common treatment options include:

• Antimalarial drugs: Hydroxychloroquine (Plaquenil), is recommended for every patient with lupus. Hydroxychloroquine was used in the past to prevent and treat malaria. It is also used to treat lupus-related arthritis, fatigue, rashes, and mouth sores, as well as prevent flares.
• Corticosteroids and immune suppressants: Patients with serious or life-threatening problems such as kidney inflammation, lung or heart involvement, and central nervous system symptoms need additional, stronger treatment. This may include high-dose corticosteroids such as prednisone and other drugs that suppress the immune system. Immune suppressants include azathioprine (Imuran), mycophenolate mofetil (Cellcept), methotrexate, cyclophosphamide (Cytoxan) and rituximab (Rituxan). Other medications help control pain, including nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen or naproxen.
• All medications have possible side effects. For example, prednisone is associated with increased risk of infection, weight gain, stretch marks, high blood pressure, osteoporosis (thin bones), depression, glaucoma (high eye pressure) and cataracts. However, prednisone is one of the fastest acting and most effective drugs to treat active lupus and control inflammation to prevent damage to the body. You should discuss the benefits and risks of recommended medications with your doctor. Based on the response to treatment, your doctor may be able to adjust medications to lower side effects while still controlling the lupus. It is very important that you discuss with your medical team any concerns you have about your medicines, or any changes to your medicines you are considering, to ensure the lupus is treated adequately.
• Biologics: In 2011, the FDA approved a biologic, belimumab (Benlysta), for the treatment of active SLE in adult patients and it was approved in 2019 for use in children. Benlysta has shown to be effective in mild forms of lupus and it is the first new drug approved for lupus since 1955.

Lupus disease, especially when active, could lead to accelerated atherosclerosis (clogging of the arteries) which can develop in young women and could also lead to heart attacks, heart failure, and strokes. Thus, it is vital that patients with lupus, in addition to controlling their disease, exercise and lower other risk factors for heart disease, such as smoking, high blood pressure, and high cholesterol.

Renal inflammation is one of the common and most serious manifestations of lupus. It could go undetected and can lead to renal failure and dialysis. You can help prevent these serious outcomes by seeking treatment at the first signs of kidney disease. These signs include:

• High blood pressure
• Swollen feet and hands
• Puffiness around your eyes
• Changes in urination (blood or foam in the urine, going to the bathroom more often at night, or pain or trouble urinating)

Most people with lupus can live normal lives. Treatment of lupus has improved, and people with the disease are living longer. Here are a couple of tips that may help you when living with lupus:

• Form a support system. A good doctor-patient relationship and support from family and friends can help you cope with this chronic and often unpredictable illness.
• Get involved in your care. Learn as much as you can about lupus, your medications, and what kind of progress to expect. Take all your medications as your doctor prescribes, and visit your rheumatologist often to prevent serious problems. This lets your doctor keep track of your disease and change your treatment as needed. If you do not live near a rheumatologist, you may need to have your primary care doctor manage your lupus with the help of a rheumatologist.
• Stay active. Exercise helps keep joints flexible and may prevent heart disease and strokes. This does not mean overdoing it. Switch off doing light to moderate exercise with times of rest.
• Avoid excess sun exposure. Sunlight can cause a lupus rash to flare and may even trigger a serious flare of the disease itself. When outdoors on a sunny day, wear protective clothing (long sleeves, a big-brimmed hat) and use lots of sunscreen.

If you are a young woman with lupus and wish to have a baby, carefully plan your pregnancy. With your doctor’s guidance, time your pregnancy for when your lupus activity is low. While pregnant, avoid medications that can harm your baby. These include cyclophosphamide, cyclosporine and mycophenolate mofetil. If you must take any of these medicines, or your disease is very active, use birth control. For more information, see Pregnancy and Rheumatic Disease.

Rheumatologists have long been concerned that the female hormone estrogen or treatment with estrogen may cause or worsen lupus, and may raise the risk of blood clots. Thus, you should avoid estrogen if your blood tests show the presence of antiphospholipid antibodies (meaning you already have a high risk of blood clots).

Children with cSLE

Hearing that your child has lupus can be frightening. However, by understanding the disease and working closely with the health care team, you can learn how best to take care of your child.
There may be times when children and teens with lupus must take time off from school to allow their bodies to heal. Otherwise, they are encouraged to live as normal a life as possible. Going to school, playing with friends, exercising, having a healthy diet and continuing family activities are all important.

Many children and teens experience several emotions related to lupus and its impact on his or her life. These can include stress, sadness, anxiety and anger. Many parents, caregivers and siblings also experience emotional challenges. It is important to recognize these feelings and provide time to talk about them. It is also important to get help when emotional challenges are causing significant distress (for example, interfering with regular activities). You can talk to members of the rheumatology team (doctor, nurse or social worker) to help identify resources for emotional health support for young patients and their families.