What is lupus?
Like all autoimmune diseases, lupus causes the immune system — our natural protection against foreign invaders like viruses and bacteria — to mistakenly attack the body itself. What makes lupus unusual, and frequently distressing for patients and families, is its unpredictability: It can affect almost any part of the body, and often many parts at the same time. There are different types of lupus, but in general the word “lupus” is shorthand for the most dominant form, systemic lupus erythematosus. Systemic means it can involve many parts of the body. Erythematosus comes from the Greek word for “red,” and describes the lupus characteristic cheek rash. Lupus is Latin for “wolf,” which some believe refers to the way a check rash resembles a wolf bite.
Also known as SLE, this illness:
- is a chronic (meaning lifelong) autoimmune disorder with no known cause or cure
- affects about 5 million people worldwide, most often adolescent girls and younger women (15 to 44)
- can target various parts of the body, including the skin, joints, blood, and vital organs like the kidneys, heart, lungs, and brain
- tends to alternate between being more active (when symptoms surge, or flare) and less active (when symptoms appear to go away)
- is less common in children
With lupus, doctors can’t predict what part of the body the immune system will choose to strike, or when. But they can use medications to help prevent or blunt these attacks and to extinguish the harmful inflammation. Back in the 1950s, children with lupus faced only about a 30 to 40 percent chance of survival. Today, however, there are powerful medications that can bring this illness under control — often permanently — in the majority of children and allow them to lead full, relatively normal lives.
Systemic lupus erythematosus
When SLE occurs in children doctors tend to call it pediatric systemic lupus erythematosus (pSLE) because it typically hits kids harder than adults and carries extra health risks, since children have more years to accrue organ damage compared with adults. About 15 percent of SLE patients are younger than 18. In the U.S., the disease affects an estimated 5,000 to 10,000 youngsters. Children with lupus:
- are more likely to have problems with vital organ systems — most critically, the kidneys and the central nervous system (brain and spinal cord)
- develop damage from their disease more quickly
- have a higher “burden of disease” over their lifetime (meaning that the earlier their lupus begins, the more years they spend living with it)
What are the other forms of lupus?
Drug-induced lupus (DIL)
This lupus-like illness can crop up in people who take certain medications for a long time. DIL is fairly rare in children, and when it occurs the most common culprit is the acne drug minocycline. DIL has some of the same symptoms of lupus — fever, fatigue, joint and muscle stiffness — but doesn’t tend to affect vital organs. Symptoms usually disappear within a few weeks after the “triggering” medication is stopped.
This temporary form of lupus affects a small percentage of infants whose mothers have certain lupus autoantibodies. It begins before birth, when these autoantibodies reach the baby via the placenta, and ends within the first several months of life, as the autoantibodies disappear from the baby’s system. The symptoms — skin rash, low blood cell counts — are likewise temporary. However, neonatal lupus does have the potential to cause permanent damage to the baby’s heart (called heart block). If the heart block is significant, a baby may need a pacemaker.
If your child has — or may have — drug-induced lupus or neonatal lupus, his or her doctor will talk with you in detail about what this diagnosis means and what the next steps will be.
How we care for lupus
If your child has lupus, it can be a confusing and scary diagnosis to deal with. At the Boston Children’s Hospital Rheumatology Program, we will be with you every step of the way in fighting this disease and helping your child enter adulthood as healthy as possible. As a partner in this process, we offer experience, specialists who have dealt extensively with childhood lupus, and research and innovation that lends itself to the treatment and management of lupus in children.
Lupus | Symptoms & Causes
What are the symptoms of lupus?
Lupus is known as “the great imitator” because many of its earliest warning signs are common in other illnesses, too. Fever, low energy, no appetite? It could be the beginning of lupus — or it might just be the flu.
Lupus is also a very shifty disease. Symptoms often come and go, new ones may crop up, while others seem to disappear. Symptoms also vary greatly from person to person, depending on what part of the body the disease is affecting at the time.
For all these reasons, diagnosing childhood lupus often requires the expertise of pediatric rheumatologists. These specialists are the best qualified to sort out the signs and symptoms of lupus from other diseases, so your child’s treatment can begin as quickly as possible.
Common symptoms of lupus include:
- loss of appetite
- weight loss
- swollen or achy joints
- muscle aches
- fever of over 100 degrees F
- skin rashes, especially a butterfly-shaped rash across the cheeks (this so-called malar rash is a hallmark of lupus) and rashes that develop on sun-exposed skin
- brittle hair, or unusual hair loss
- ulcers in the mouth or nose
- fingers that turn white and/or blue from cold or stress (Raynaud’s phenomenon)
Compared with adults, children with lupus are more likely to have problems with vital organs, especially the kidneys and the brain. These symptoms may include:
- dark urine
- swelling around the feet, legs, and eyelids (kidney inflammation, or nephritis)
- shortness of breath, chest pain (lung inflammation, or pleuritis)
- headaches, memory problems, seizures (brain inflammation, or cerebritis)
What causes lupus?
We don’t yet know why some children develop lupus and others don’t. It’s not contagious, like measles — you can’t “catch” it from another person. It’s not a disease that parents pass directly down to their children; in fact, there’s only about a 5 percent chance that a son or daughter of someone with lupus will also develop it.
While researchers do believe that genes play a big role in causing lupus, there’s more to it than that. Otherwise, you’d expect that if one identical twin has lupus, the other would, too — but that’s often not the case. Instead, there’s likely a two-part process involved in causing lupus:
- Family history: A child is born with certain genes that make him or her susceptible to lupus. Think of a forest in dry, hot weather: The ingredients for a wildfire are there, but it takes something else to spark the blaze.
- Environmental factors: The child encounters something — or a combination of things — that causes the disease to “ignite.” The environmental factors that may trigger lupus include infections, ultraviolet light, and perhaps extreme stress. And given that so many lupus patients are female, it’s also likely that hormones play an important role in the development of and risk for this disease. However, there’s still a lot we don’t know about these triggers, especially why some affect certain children and not others.
Scientists are now working to discover which genes are involved in lupus — and how its potential disease triggers work — in order to bring us closer to curing or even preventing this chronic illness.
Lupus | Diagnosis & Treatments
How is lupus diagnosed?
You may have read that lupus is extremely difficult to diagnose and that some patients go a long time, even years, before they know what’s wrong with them. And it’s true the symptoms of lupus can mimic many other illnesses, such as infection and cancer. But if you bring your child to a pediatric rheumatologist — the kind of doctor who knows best what this disease looks like in children — odds are that he or she can determine whether it’s lupus relatively quickly, and if treatment is needed, it can begin right away.
Since there is no single symptom or test result that points to lupus, your child’s doctor will collect a lot of information to make a diagnosis. He or she will conduct a thorough physical exam, make a list of your child’s current symptoms, and talk with you about your child’s medical history and the medical history of close family members.
Your child’s doctor will also use certain lab tests to help make a diagnosis and, later, to keep tabs on how the lupus is progressing. These tests include:
- complete blood count (CBC), which is a collection of tests measuring the size, number, and maturity of different blood cells in a specific amount of blood. Two important tests include:
- white blood cell count (WBC): This test indicates the number of white blood cells present. Low levels may point to an active problem with the immune system, like lupus. High levels, on the other hand, may indicate an infection.
- hematocrit: indicates the number of red blood cells present. Anemia, or low levels of red blood cells, is often a symptom of lupus.
- antinuclear antibody (ANA), which detects certain abnormal proteins, called antinuclear antibodies, that the immune system often makes when attacking the body’s own tissues. The presence of these antibodies is common in lupus and other autoimmune diseases. However, testing positive for ANA does not equal lupus. Positive tests are also seen in children with other conditions, and even in a handful of perfectly healthy children.
- anti-DNA, which detects a specific antinuclear autoantibody commonly seen with lupus nephritis.
- complement (C3 and C4), which measure blood complement levels. The complement system includes a group of proteins that are part of the immune system. Low levels of complement may indicate lupus activity and increase the risk for infection.
- C-reactive protein (CRP), which measures the amount of a protein made in the liver. CRP levels tend to increase when there’s an inflammatory process. CRP levels rise very quickly, and may indicate lupus activity or may reflect a new infectious process somewhere in the body.
- erythrocyte sedimentation rate (ESR or sed rate), which measures how quickly red blood cells fall to the bottom of a test tube. If the cells clump together and fall more rapidly than normal, it can signal there is inflammation in the body.
Your child’s doctor may order other lab tests or imaging tests to check for signs of lupus in specific organs. A urinalysis, for example, can help show whether lupus is affecting the kidneys, while a chest x-ray may show telltale inflammation around the heart or lungs.
Sometimes a biopsy can be helpful in making a diagnosis or evaluating the health of a specific organ or tissue. Almost any part of the body can be biopsied — in which a small sliver of tissue is removed and examined under a microscope — although in lupus it tends to be the skin or the kidneys.
The 11 criteria for lupus
Since lupus symptoms vary so widely and test results don’t always tell the full story, you may wonder how doctors are able to put the puzzle pieces together to come up with a diagnosis. Much of it depends on their past experience with patients, but they also bear in mind 11 lupus criteria laid out by the American College of Rheumatology.
Typically, at least four of the following things must be present for a doctor to diagnose lupus:
- malar rash: a butterfly shaped rash across cheeks and nose
- discoid rash: raised, scaly patches on the skin
- photosensitivity: skin rash caused by sun exposure
- oral ulcers: small, usually painless sores in the mouth
- arthritis: swelling and achiness in at least two joints
- cardiopulmonary problems: inflammation around the heart and/or lungs
- neurological problems: such as seizures and/or psychosis
- kidney problems: such as blood in the urine
- hematologic (blood) problems: low levels of red blood cells (anemia), white blood cells, or platelets
- positive antinuclear antibody (ANA) test
- other positive blood tests that may indicate an autoimmune disease
It’s not unusual, though, for experienced physicians to make a diagnosis even when fewer than four criteria are present.
When to seek medical advice
If your child has symptoms such as fever, fatigue, joint stiffness, and skin rashes — especially a butterfly shaped rash across her cheeks and nose — it might mean she has lupus. You should make an appointment with your child’s pediatrician, who will then make a referral to a rheumatologist if lupus is suspected.
If your child has already been diagnosed with lupus, you should call her specialist about any sudden changes in her symptoms or the appearance of new ones. And remember that infections can potentially be more serious in children with lupus: If your child develops a fever or feels increasingly unwell, let her doctor know right away.
What are the treatment options for lupus?
A diagnosis of lupus can be very difficult for a parent to hear. But at Boston Children's, we view the diagnosis as a starting point: Having identified your child's condition, we're able to begin the process of treating your child. We will work with you and your child to bring the symptoms of lupus under control, head off complications. and ultimately send your child into adulthood as healthy as possible.
Treating an unpredictable disease like lupus is like fighting a fire: Doctors can't know where it might spread, so they focus on what's actually “on fire” — the places in your child's body where lupus is active right now. If lupus is affecting your child's kidneys and central nervous system, for example, the treatment will be very different from what it might be if the disease is affecting your child's skin. This is why it's essential to let your child's doctor know when new symptoms appear, since they could mean another part of the body is under attack.
The medications used to treat lupus fall into two main categories. Nonimmunosuppressants tend to be milder drugs that fight inflammation or help ease discomfort and have few side effects. Immunosuppressants are much more powerful drugs aimed at bringing the malfunctioning immune system under control. Some have significant side effects and — because they suppress the immune system — all increase the risk of infection.
- Antimalarials, most often hydroxychloroquine (Plaquenil), help reduce the frequency of lupus flares. They are among the safest, most gentle drugs for lupus, yet go a long way toward preventing its life-threatening complications. Most children can expect to be on antimalarials for an indefinite period of time. A potential side effect of hydroxychloroquine is eye problems, but this can be monitored through twice-yearly visits to an ophthalmologist.
- Nonsteroidal anti-inflammatory drugs (NSAIDs) ease symptoms like pain, swelling, and stiffness, and are used mainly for kids with lupus arthritis. Among the most common NSAIDs are ibuprofen and naproxen, given in therapeutic doses (that is, higher than the over-the-counter versions). Potential side effects, like stomach problems, are monitored for, but tend to be mild.
- Corticosteroids — most often prednisone — aren't the same as the anabolic steroids that athletes sometimes take. These are powerful, fast-acting drugs that suppress the entire immune system. Many kids with lupus will need corticosteroids at some point. However, doctors work to phase them out as soon as possible because of their potential side effects, which can include weight gain, facial puffiness (a “cushingoid” appearance), acne, high blood pressure, and reduced bone density.
- Steroid-sparing therapies offer many of the benefits of corticosteroids, usually with fewer side effects, but may take much longer to work. You may also hear these drugs called DMARDs, for disease-modifying anti-rheumatic drugs. This group includes methotrexate, azathioprine (brand name Imuran), and mycophenolate mofetil, or MMF (CellCept). Side effects vary by medication, but may include liver problems and anemia.
- Biologics are a relatively new class of steroid-sparing therapies that are based on compounds made by living cells. Instead of suppressing the entire immune system, biologics are more like smart bombs — they only target certain parts of it. Biologics used in lupus include rituximab (Rituxan), tocilizumab (Actemra), and belimumab (Benlysta). Side effects vary by medication.
- Cytotoxins are drugs that destroy rapidly dividing cells in the overactive immune system. Cytotoxins — such as cyclophosphamide (Cytoxan) — are so potent they're usually reserved for lupus patients with serious kidney disease or central nervous system problems. Side effects may include nausea and vomiting, hair loss, and bladder problems.
Aside from medications, your child's doctor may also prescribe IVIg (intravenous immunoglobulin), which is a blood product made up of healthy antibodies that is delivered by IV, and can help get the immune system back on track. Much more rarely, your child may need to undergo plasmapheresis, a process that removes autoantibodies from the blood. But because it also takes away normal antibodies, it significantly weakens the immune system. That's why doctors treat only very severe lupus with plasmapheresis.
Complications of lupus require their own medications and treatment procedures, too — dialysis for serious kidney disease, for instance. Your child's doctor will discuss these with you in detail if and when any complications arise.
A final note: Medicine is essential, but it's not the sum total of your child's treatment for lupus. Many kids with lupus also require physical and occupational therapy, to increase their mobility and muscle strength and to learn ways to make day-to-day activities easier on their bodies. And because chronic illnesses like lupus can be mentally and emotionally tough to deal with, psychotherapy or counseling can be valuable in helping kids keep the positive outlook they need to beat their disease.
When your child is facing a chronic illness like lupus, it's understandable that you would want to explore all the treatment options. But despite what you may read on the Internet, or hear from friends of friends, there is no “hidden” cure for lupus. No magic herb or special diet will restore your child to perfect health.
That said, there are some things outside conventional medicine — like acupuncture or meditation — that are fairly well studied and do seem to help some people with lupus.
A few words of caution before embarking on any alternative therapies, however:
- Talk it over with your child's doctor. It's important that whatever you have in mind won't interfere with the overall treatment plan. Also, the doctor may know other patients who have tried the therapy — and whether it helped them.
- Don't skip prescribed treatments. Alternative therapies are meant to supplement traditional medicine, not replace it. It's vital that your child stick to her medications, or else risk letting her illness get out of control.
- Avoid fly-by-night practitioners. For things like Reiki, acupuncture, and massage, always ask your doctor for a referral, if appropriate, or recommendations on how to find a qualified care provider.
- And be prepared to pay: By and large, health insurance plans don't cover alternative therapies.
Lupus is chronic, incurable, and unpredictable. But it's not unbeatable. And you can fight it by helping your child make some simple lifestyle changes at home.
- Eat a healthful diet. Make sure your child is getting plenty of fruits and vegetables, whole grains, low-fat dairy products, and lean sources of protein. And load up on vitamin D and calcium, especially if your child is taking corticosteroids, which can weaken bones.
- Stay active. Encourage your child to walk, swim, bicycle, and simply get out and play. While she'll have to be careful not to get overtired, exercise helps keep muscles strong and joints flexible. And since all lupus patients are at greater risk for cardiovascular disease later in life, making a habit of exercising now will mean better heart health in adulthood.
- Beware sun exposure. Because the ultraviolet rays in sunlight can trigger a flare, your child should wear plenty of sunscreen (SPF 30 or higher) when she goes outside. Protective clothing like hats and long-sleeved shirts are also strongly recommended.
- Get plenty of rest. People with lupus are prone to fatigue, so remind your child to take a break if she's feeling run-down — a brief nap can be tremendously helpful in recharging a kid's batteries. And a full night's sleep is essential.
By doing these things and becoming a full partner in your child's health care — keeping clinic appointments, alerting doctors to any new symptoms — you may end up feeling more in control of what can be a very daunting illness.
What is the long term outlook for children with lupus?
The outlook for children with lupus can vary a great deal, however, depending on when the disease begins (called the onset).
- age 15-18 (more common): In this group, pSLE tends to look and behave more like adult lupus; its severity can range from mild symptoms to life-threatening disease.
- younger than 15 (less common): Symptoms can be more severe in this group, and there’s a greater chance that vital organs will be affected.
- younger than 5 (rare): The smallest children are typically among the sickest lupus patients, largely because most also have complement deficiency, meaning they don’t have enough of certain blood proteins that play a key role in the immune system.
It’s important to remember that everyone with lupus responds to the disease — and the medications used to treat it — in her own unique way. You can’t predict exactly how lupus will progress in your child. But you can greatly improve your child’s odds for a healthy future by helping her understand and stick with the recommended treatments for her condition.
Lupus | Frequently Asked Questions
We don’t know exactly why some children’s immune systems begin attacking their own bodies. It’s related to something in their genes and likely a number of other, unknown factors. It’s important to remember that your child’s lupus wasn’t caused by anything you did, and there’s nothing you could have done to prevent it.
Though lupus isn’t a disease that passes directly from parent to child, it does tend to run in families. However, the risk is low enough that it’s very rare for two siblings to have lupus. And while there are blood tests that can help doctors make a diagnosis of lupus, they don’t provide useful information about children who have shown no symptoms of disease.
Vaccinations DO NOT cause this disease. Moreover, if your child has lupus, it’s important that she continue receiving vaccinations against things like tetanus, flu, and pneumococcal disease, because both her illness and the medications used to treat it can leave her more vulnerable to infections. The only exceptions to this rule are “live” vaccines — like MMR (measles, mumps and rubella) and nasal flu sprays — which can be harmful for kids with a suppressed immune system.
There is a lot of misinformation about lupus on the web, including a widely circulated warning that the artificial sweetener aspartame causes lupus. But there is absolutely no scientific proof that aspartame, or anything in our diet, for that matter, causes lupus or makes it worse.
Although both diseases involve problems with the immune system, lupus and HIV/AIDS are almost polar opposites: In lupus, the immune system is overactive, while in HIV or AIDS, the immune system is underactive. In addition, lupus is not infectious — unlike AIDS, it can’t spread through sexual contact, blood transfusions, or infected needles.
Lupus is most dangerous when it affects vital organs. In young children, doctors watch closely for any involvement of the kidneys and the central nervous system (the brain and spinal cord), because these two organ systems require the most immunosuppression and, if damaged, can have life-threatening complications.
Over the long run, the leading cause of death among lupus patients is cardiovascular disease. But if children with lupus develop heart-healthy habits early on, they can significantly reduce their risk for this illness later in life.
Kids with very mild cases of lupus may require certain medications only when their symptoms bother them: ibuprofen for achy joints, for instance, or cortisone cream for skin rash. But all lupus patients should take hydroxychloroquine, an antimalarial drug that’s been shown to decrease lupus flares, every day and possibly for the rest of their life.
The good news is that the lupus drugs with the most serious side effects — like corticosteroids — are rarely used over the long term. Instead, doctors aim to get kids off these powerful medications as soon as possible.
Start by asking your child’s doctor, who will be the best source of information about any new treatment that might benefit your child. You can also learn more about clinical trials at the Lupus Foundation of America’s website.
There is no way to keep a child from getting lupus; there are no vaccines against this illness, no special diet to ward it off. But once the disease begins, there many important ways you and your child can help in treating it.
- Stick to the medications. Some drugs used to fight lupus must be taken for a long time, even years. Others, like corticosteroids, may have unpleasant side effects. It’s not unusual for kids to want to skip their medications when they’re feeling better (one study of pharmacy receipts showed that 40 to 50 percent of lupus patients had failed to refill their prescriptions — and those were adults!). But taking all medications as prescribed — what doctors call adherence — is what keeps the brakes on this disease: Skip a dose, and it will pick up speed.
- Alert your doctor to any new symptoms Firefighters can’t predict where a blaze will happen, but instead swing into action when one breaks out. Battling lupus is a similar process: Doctors can’t predict what parts of the body the disease may choose to affect, so they treat your child based on what’s actually “on fire” (active kidney inflammation, for example). New symptoms may mean lupus has spread to another part of the body, and you’ll want to sound the alarm for your child’s doctors as soon as possible.
- Take steps to avoid flares. The symptoms of lupus tend to alternate between being fairly quiet and then being very active, called a flare. To help keep your child’s symptoms under control, make sure she eats well and gets enough sleep and exercise, and avoids things that can trigger flares, especially undue sun exposure.
For reasons we don’t yet understand, lupus often attacks children’s vital organs, which can cause some of the most serious problems. While it can be distressing to learn about lupus’ potentially life-threatening complications, it may help you understand why doctors often go after this illness with powerful drugs like corticosteroids, which have their own possible risks and side effects.
Potential complications of lupus include:
- kidney disease (called nephritis), which affects about 60 percent of children with lupus. If unchecked, kidney disease can progress to the point where a child needs dialysis or even a transplant. It’s one of the leading causes of death in pediatric lupus patients.
- central nervous system problems: often cerebritis, inflammation of brain tissues), which affect about 20 to 30 percent of children with lupus and can cause mood changes, memory problems, seizures, and even stroke.
- hematological (blood) problems, which affect more than half of children with lupus. The most frequent blood-related complication is a lack of red blood cells, or anemia. Other problems include leukopenia, a decreased number of white blood cells, which can lead to infections; and thrombocytopenia, a decreased number of blood platelets, which can cause clotting problems.
- arthritis, or joint inflammation, which affects more than 75 percent of children with lupus. Possible long-term complications of joint inflammation are osteoporosis (weakened bones) and restricted motion of joints.
- respiratory problems (called pleuritis, inflammation of the lining of the lungs), which affect up to half of children with lupus.
- heart problems (often pericarditis, inflammation of the membrane around the heart), which affect up to 25 percent of children with lupus. There is also a higher risk for serious cardiovascular disease later in life.
In addition, all kids with lupus have a greater risk for developing infection. This is because their immune system is not working properly, but also because many lupus medications work by actually suppressing the immune system, further lowering the body’s defenses against invaders like bacteria and viruses.
Not that long ago, lupus (in both children and adults) was considered an untreatable disease. One study of lupus patients in the 1950s found that less than half were alive four years after diagnosis.
But advances in treatment have made the outlook for today’s lupus patients considerably brighter. While this remains a serious and long-term illness, an estimated 85 percent of people with lupus will live a normal lifespan.
The outlook for your child depends on a great deal on how severe her illness is. Lupus can be mild, causing skin rashes and joint aches, which require minimal treatment. The disease can also be very active, and if it spreads to vital organs it can do a lot of damage — sometimes irreversible. Your doctor will be the best source of information about what form of lupus your child is facing, and what it might take to bring it under control.
Even if your child’s lupus “settles down” — either on its own or through treatment — it never goes away completely. To help keep the disease from flaring up, your child will probably be taking some type of medication for years to come. She’ll also need to see her doctor regularly for checkups. But by helping your child do these things and adopt good health habits for life (avoiding sun exposure, eating well, exercising), you’ll ensure the best possible outlook for her future.