Autoimmune Diseases Symptoms & Causes

Even though autoimmune diseases are estimated to affect some 23 million Americans, less than 13 percent of us can actually name an illness in this group. This underlines the fact that the study of the immune system (immunology) is still very much an evolving field, as doctors and researchers learn more about the body’s natural defense system—and what happens when it malfunctions. 

To better understand your child’s autoimmune disease, it helps to know generally how the immune system works: 

  • Whether bacteria, a virus or grain of pollen, when a foreign invader (antigen) tries to enter the body, it first encounters the innate immune system.
  • The innate system is our inborn, nonspecific response to antigens. It’s a general set of defenses that includes barriers like skin and mucous membranes, and reactions like coughing and sneezing reflexes.
  • The innate system also includes roaming white blood cells called phagocytes (literally, “eating cells”), designed to devour any antigen that gets through the outer defenses.
  • The innate system will either destroy the invader or buy time for the more complex adaptive immune system to work.
  • The adaptive system is our continually evolving, specific response to antigens. It’s a targeted defense that identifies the invader and makes unique proteins (antibodies) to mark it for attack.
  • Among the key players in the adaptive system are special white blood cells called B cells, which produce antibodies, and T cells, which coordinate and carry out the attack—and, importantly, also signal when it should stop. 

In autoimmune disease, the adaptive immune system mistakenly begins attacking specific healthy cells and tissues—and fails to shut off that attack. This is different from other immune system malfunctions, such as acquired immunodeficiency disorders, like AIDS, in which the immune system is weakened or ineffective, and allergic disorders, in which the immune system overreacts to a foreign invader (pollen, for example). 

Doctors have also begun to recognize autoinflammatory disorders—which happen when the innate immune system goes awry—as being distinct from autoimmune illnesses. Though both attack the body itself and cause inflammation, an autoimmune disease targets antigens in specific cells and tissues (like the lining of joints, in arthritis), while an autoinflammatory disease launches a less specific attack against the body.

What are the types of autoimmune disease?

With the ability to crop up in virtually any part of the body, autoimmune disease comes in many varieties. However, your child’s illness will likely fall into one of two basic groups: 

The line between these two groups is a bit blurry, though, since organ-specific disorders can impact other parts of the body. Also, it’s not unusual for children to have more than one autoimmune disorder at the same time.

Who is at risk for autoimmune disease?

Because there are several dozen kinds of autoimmune diseases, risk factors depend somewhat on which illness you’re talking about. In general, though, researchers have found strong links to the following: 

  • Gender: Females are almost three times as likely as males to have an autoimmune disease, with adolescent girls and young women being at greatest risk. For some diseases, such as scleroderma and lupus (SLE), more than 85 percent of patients are female. (However, one of the more common autoimmune diseases in children, type 1 diabetes, occurs in boys and girls almost equally.)
  • Age: Most autoimmune diseases affect younger and middle-aged people. Some illnesses begin specifically in childhood (as their name suggests)—juvenile idiopathic arthritis and juvenile dermatomyositis, for example.
  • Genetics: A family history of autoimmune disease puts a child at higher risk. In fact, it’s been estimated that about one-third of the risk of developing an autoimmune disease is tied to something in a child’s genes.
  • Race: Some reports suggest that children of different races may be more prone to having certain autoimmune diseases. African-Americans, for instance, seem to be more likely than Caucasians to develop lupus (SLE) and scleroderma, but the opposite is true for type 1 diabetes and multiple sclerosis (MS).
  • Other illnesses: Children with one autoimmune disease tend to run a higher risk of developing another. For example, kids with type 1 diabetes appear to be more susceptible to developing celiac disease or Addison’s disease.

Can autoimmune disease be prevented?

So far, there’s no way to stop autoimmune disease before it starts. But prevention remains the long-term goal—especially since harmful autoimmune activity can be difficult to “turn off” once it’s begun. 

In a recent report to Congress, the National Institutes of Health outlined the three challenges that researchers face: 

  • recognizing the specific genetic patterns of people susceptible to autoimmune disease
  • zeroing in on environmental factors (viruses, toxins, etc.) that may trigger disease
  • coming up with ways to intervene before the disease begins, along with creating public screening programs

What are the potential complications of autoimmune disease?

Complications depend on the specific disease, and can range from relatively mild to very serious. Among the more common complications in children with autoimmune disease are eye inflammation, rashes and stunted growth. Life-threatening complications, like inflammation of vital organs (kidneys, heart, etc.), tend to be rare.

In addition, some of the more powerful medications used to treat autoimmune diseases can have significant side effects. If they are recommended for your child, your child’s doctor will discuss their potential complications in detail with you.

What is the long-term outlook for my child?

By and large, autoimmune diseases are considered lifelong conditions. There are certain illnesses, like juvenile dermatomyositis, can be “cured” in the sense that with successful treatment, the symptoms never recur. Other illnesses, like certain types of juvenile idiopathic arthritis, are things that many kids simply grow out of. But even when a child’s autoimmune disease “goes away” (this is called remission), she’ll need to keep a close eye on her health throughout her life, because her immune system has already shown it’s capable of attacking healthy tissue. 

If your child has a more serious autoimmune disease, she may go through periods of getting better (remission) and getting worse (relapse). A sudden, severe return of symptoms, called a flare-up, isn’t uncommon. This seesawing back and forth can be difficult to deal with, especially over the long term, but both medical treatment and lifestyle changes can go a long way toward bringing these shifts under control. 

Even after diagnosing your child’s particular autoimmune disease, doctors can’t predict exactly what will happen. But they’ll be able to give you a general sense of what the future holds, and work with you and your child to develop a treatment plan that ensures the best possible outcome.

Causes of Autoimmune Diseases

The exact reason that some children’s immune systems begin attacking their own bodies is still a mystery. But we do know that autoimmune diseases are not contagious, and they don’t appear to be caused by any one thing in particular. Instead, scientists believe there’s a multi-step process at work: 

  • Heredity: A child inherits certain genes from her parents that make her susceptible to a particular disease.

  • Environmental factors: The disease doesn’t actually reveal itself until it’s “triggered” by something—an infection, say, or exposure to certain toxins or drugs.

  • Hormonal factors: Given that many autoimmune diseases tend to affect adolescent girls and young women, the presence or amount of certain naturally occurring hormones in the body may also play a role in when these illnesses come to the fore.  

Researchers are now working to discover which genes are involved and how they interact—and are likewise investigating a number of potential environmental and hormonal triggers—in order to bring us closer to one day curing these diseases.

Signs and symptoms of Autoimmune Diseases

There’s no single set of symptoms that covers the spectrum of autoimmune disease, and the most common symptoms tend to be nonspecific—meaning they could be caused by some non-autoimmune diseases, too. This can make it harder for doctors to diagnose your child, and why your child may also need a number of tests to narrow down the possibilities. 

Signs that your child may be having a problem with her immune system include: 

  • low-grade fever
  • fatigue or chronic tiredness
  • dizziness
  • weight loss
  • rashes and skin lesions
  • stiffness in the joints
  • brittle hair or hair loss
  • dry eyes and/or mouth
  • general "unwell" feeling 

Recurring fever, fatigue, rashes, weight loss and so on are not concrete proof that your child has an autoimmune disease, but they do mean something is making her ill and needs medical attention. You should take her to see her pediatrician, who will refer you to a specialist—likely a pediatric rheumatologist—if an autoimmune disease is suspected.

Frequently Asked Questions (FAQ) about Autoimmune Disease

Q: Why did my child get an autoimmune disease?
A: 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 disease wasn’t caused by anything you did, and there’s nothing you could have done to prevent it. 

Q: Why are girls more likely to have an autoimmune disease?
A: Researchers are still puzzling out why this group of illnesses so often tends to affect adolescent girls and young women, but many think that high levels of certain female hormones—which increase after puberty and through the childbearing years—may be playing a role. 

Q: Why are there so many kinds of autoimmune diseases?
A: The immune system is designed to protect the entire body. When it malfunctions, it can attack virtually anywhere, from the skin to the joints to the blood vessels—which all respond in different ways and often require different treatment strategies. 

Q: Can autoimmune disease be fatal?
A: In some cases, severe autoimmune diseases—especially those affecting the kidneys, lungs, blood vessels and other vital organs—can be fatal. Fortunately, though, these illnesses are very rare, and treatment is aimed at keeping these vital organs healthy. Infection is another potentially life-threatening problem for certain children; however, with the recognition of its signs and symptoms, appropriate treatment can be life-saving. 

Q: Is there a test that can show which illness my child has?
A: There’s no single test that can identify autoimmune disease. In addition, some lab tests—like rheumatoid factor, often used to help classify juvenile idiopathic arthritis—may give false positives or false negatives. This is why your child’s doctor may use an array of tests, along with careful consideration of your child’s symptoms and physical exam findings, in making a diagnosis.

Q: How are autoimmune diseases treated?
A: Broadly speaking, doctors prescribe medications that 1) fight the harmful inflammation caused by autoimmune attack and 2) suppress the overall immune system or block specific things that it’s doing. Surgical therapies for autoimmune diseases are very rare.  

Q: What kinds of doctors treat autoimmune disease?
A: Rheumatologists, who specialize in diseases of the joints and connective tissue, often diagnose autoimmune illnesses and tend to be at the center of the health care team. Depending on which tissues or organs are affected, other specialists—such as dermatologists (skin) and nephrologists (kidneys)—may be involved in caring for your child.