Autoimmune diseases are common but tough to diagnose

Not all joint pain and inflammation means you have an autoimmune disease.

There are dozens of types of autoimmune diseases, which cause the body's immune system to attack healthy cells, and millions of Americans suffer from them. They can result in a range of problems, from pain in joints and muscles to dysfunction in organs. For those with ongoing or severe symptoms, doctors can investigate for autoimmune diseases such as rheumatoid arthritis, lupus, multiple sclerosis or celiac disease, said Dr. Sahayini Kumar, a faculty member with Greater Baltimore Medical Center's department of internal medicine.

What constitutes an autoimmune disease, and who commonly suffers?

In autoimmune disease, the body's immune system erroneously attacks the body's own cells. Normally, the immune system carefully singles out invaders for destruction and suppresses reactions against its own tissues. The immune system may become confused with a number of triggers. These triggers [can include] inherited defects in the immune system, contact with infections that look like the body's cells or trigger strong reactions, and exposure to medications or herbs that turn up in the system. Like the rest of our body, our immune system ages and may become dysfunctional later in life.

Whatever the cause, autoimmune disorders may affect any part of the body. They attack women three times more often than men. Some diseases, like lupus, have even higher frequency in women. African-American, Hispanic and Native American women are more likely to develop the disease than Caucasian women.

What are the symptoms? Can they come and go?

Symptoms can vary depending on which organ system is affected. For example, rheumatoid arthritis most commonly affects the cartilage and the bones; therefore, joint pain, swelling and stiffness are the most common symptoms. Lupus, on the other hand, affects many systems simultaneously, with symptoms such as fever, muscle aches, weight changes, joint pains, skin rashes, mouth ulcers, blood in the urine, cough, chest pain, abdominal pain and seizures. Sjogren's disease can [cause] dry eyes and dry mouth.

These are just a few examples of up to 100 autoimmune diseases, and symptoms can vary widely within a disease. They can also vary in the severity at various time periods. Because of the wide range of impact and varying symptoms, patients may find diagnosing autoimmune diseases challenging.

Does everyone with joint pain and inflammation have an autoimmune disease?

Joint pain and inflammation can also occur with other diseases and injuries. Wear and tear on the joints, called osteoarthritis, affects almost every person as they age and sometimes may appear very similar to autoimmune disorders. In general, osteoarthritis progresses more slowly and responds more readily to standard anti-inflammatory medication, physical therapy and surgery. Many viral infections can cause sudden pain in multiple joints. Bacterial infections can affect the joints, causing pain and inflammation. Gout is another cause of joint pain and inflammation.

When do you need to see a doctor, and how are the disorders diagnosed?

If the symptoms are severe or continue for several days, you should see your primary care physician. An autoimmune disease is diagnosed by your doctor based on your symptoms, a physical examination and lab tests. Keeping a diary of your symptoms can be helpful, as the precise timing of symptoms can help a clinician sort through them. For instance, how long stiffness of a joint lasts, what occurs just before a rash or which activities worsen a pain all help categorize what type of immune activity the patient is experiencing.

Similarly, the look and feel of the skin and joints on a physical exam often distinguish important features. Blood tests to assess body functions also help. These might check blood counts and organs such as the liver, kidney and thyroid. X-rays allow us to look directly at the joints. Other blood tests directly look at how the immune system functions.

What are the treatments, and how effective are they?

The treatment depends on the type of autoimmune disease. If the disease affects a system that produces a substance that is essential for the body, the treatment would focus on replacing the deficient substance. For example, when the pancreas is affected, it results in Type 1 diabetes; the treatment would be to replace the deficient insulin.

If the disease affects multiple systems like in lupus, the treatment would focus on suppressing the inflammation. Anti-inflammatory medications such as glucocorticoids, nonsteroidal anti-inflammatory drugs and disease-modifying antirheumatic drugs (DMARDS) have been in use for the past several decades.

A newer class of drugs called biologic DMARDS [were] introduced in the late 1990s for treating moderate to severe autoimmune diseases. These drugs target cells at a molecular level in preventing inflammation at a very early stage. Many studies have shown that these newer drugs are much more effective in slowing and preventing the disease progression. However, these drugs are costly and can have serious side effects, increasing infections and malignancy. The risks and the benefits should be discussed with your health care provider when deciding which drug suits you the best.

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