21st Century Ankylosing Spondylitis (AS) Sourcebook: Clinical Data for Patients, Families, and Physicians - Seronegative Spondyloarthropathy, Arthritis, Back Pain, Sacroiliitis, Related Conditions
Edition 1.0 - July 2011
National Institutes of Health
Smashwords Edition
Copyright 2011 Progressive Management
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SECTION A: Ankylosing Spondylitis and Related Conditions
SECTION B: Guide to Leading Medical Websites
SECTION C: Medical Fundamentals - Mini-Encyclopedia
SECTION D: Cancer Fundamentals - Mini-Encyclopedia
SECTION E: Affordable Care Act (ACA)
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SECTION A: Ankylosing Spondylitis (AS) and Related Conditions
A type of seronegative spondyloarthropathy
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Questions and Answers about Ankylosing Spondylitis
This guide contains general information about ankylosing spondylitis (AS). It describes what ankylosing spondylitis is, its causes, and treatment options. Highlights of current research are also included. If you have further questions, you may wish to discuss them with your health care provider.
What Is Ankylosing Spondylitis?
Ankylosing spondylitis is a form of progressive arthritis due to chronic inflammation of the joints in the spine. Its name comes from the Greek words “ankylos,” meaning stiffening of a joint, and “spondylo,” meaning vertebra. Spondylitis refers to inflammation of the spine or one or more of the adjacent structures of the vertebrae.
Ankylosing spondylitis belongs to a group of disorders called seronegative spondyloarthropathies. Seronegative means an individual has tested negative for an autoantibody called rheumatoid factor. The spondyloarthropathies are a family of similar diseases that usually cause joint and spine inflammation. Other well-established syndromes in this group include psoriatic arthritis, the arthritis of inflammatory bowel disease, chronic reactive arthritis, and enthesitis-related idiopathic juvenile arthritis.
Although these disorders have similarities, they also have features that distinguish them from one another. The hallmark of ankylosing spondylitis is “sacroiliitis,” or inflammation of the sacroiliac (SI) joints, where the spine joins the pelvis.
In some people, ankylosing spondylitis can affect joints outside of the spine, like the shoulders, ribs, hips, knees, and feet. It can also affect entheses, which are sites where the tendons and ligaments attach to the bones. It is possible that it can affect other organs, such as the eyes, bowel, and—more rarely—the heart and lungs.
Although many people with ankylosing spondylitis have mild episodes of back pain that come and go, others have severe, ongoing pain accompanied by loss of flexibility of the spine. In the most severe cases, long-term inflammation leads to calcification that causes two or more bones of the spine to fuse. Fusion can also stiffen the rib cage, resulting in restricted lung capacity and function.
Who Has Ankylosing Spondylitis?
Ankylosing spondylitis typically begins in adolescents and young adults, but affects people for the rest of their lives. An estimated 80 percent of people who have the disorder develop symptoms before age 30. Only 5 percent develop symptoms after age 45. Some authorities say that it affects roughly twice as many men as women.
What Causes Ankylosing Spondylitis?
The cause of ankylosing spondylitis is unknown, but it is likely that both genes and factors in the environment play a role. The main gene associated with susceptibility to ankylosing spondylitis is called HLA-B27, but having the gene doesn’t necessarily mean you will get ankylosing spondylitis. In fact, about 8 percent of Americans have this gene, but fewer than 5 percent (1 out of 20) of those with HLA-B27 actually develop ankylosing spondylitis.
Scientists supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) recently discovered two additional genes—ERAP1 (previously known as ARTS1) and IL23R—that, along with HLAB27, may represent a large portion of the genetic risk for ankylosing spondylitis. Factors such as infections or normal bacteria that live in the intestines may trigger the disease in people who are genetically susceptible.
How Is Ankylosing Spondylitis Diagnosed?
A diagnosis of ankylosing spondylitis is based largely on the findings of a medical history and physical exam. Radiologic tests and lab tests may be used to help confirm a diagnosis, but both have some limitations.
Medical History
The medical history involves answering questions, such as the following:
* How long have you had pain?
* Where specifically is the pain in your back or neck? Are other joints affected?
* Is back pain better with exercise and worse after inactivity, such as when you first get up in the morning?
* Do you have other problems, such as eye problems or fatigue?
* Does anyone in your family have back problems or arthritis?
* Have you recently suffered from a gastrointestinal illness?
* Do you have any skin rashes such as psoriasis?
From your answers to these questions, your doctor can begin to get an idea of the diagnosis.
Physical Exam
During the physical exam, the doctor will look for signs and symptoms that are consistent with ankylosing spondylitis. These include pain along the spine and/or in the pelvis, sacroiliac joints, heels, and chest. Your doctor may ask you to move and bend in different directions to check the flexibility of your spine and to breathe deeply to check for any problems with chest expansion, which could be caused by inflammation in the joints where the ribs attach to the spine.
Radiologic Tests
X ray and magnetic resonance imaging (MRI) may be used in making or confirming a diagnosis of ankylosing spondylitis, but these tests have limitations. X rays may show changes in the spine and sacroiliac joints that indicate ankylosing spondylitis; however, it may take years of inflammation to cause damage that is visible on x rays. MRI may allow for earlier diagnosis, because it can show damage to soft tissues and bone before it can be seen on an x ray. However, MRI is very expensive. Both tests may also be used to monitor the progression of ankylosing spondylitis.
Lab Tests
The main blood test for ankylosing spondylitis is one to check for the HLA-B27 gene, which is present in more than 95 percent of Caucasians with ankylosing spondylitis. However, this test also has limitations. The gene is found in much lower percentages of African Americans with ankylosing spondylitis and in ankylosing spondylitis patients from some Mediterranean countries. Also, the gene is found in many people who do not have ankylosing spondylitis, and will never get it. About 8 percent of Americans have the gene, but only a small percentage of those will have ankylosing spondylitis. Still, when the gene is found in people who have symptoms of ankylosing spondylitis and/or x-ray evidence of ankylosing spondylitis, this finding helps support the ankylosing spondylitis diagnosis.
What Type of Doctor Diagnoses and Treats Ankylosing Spondylitis?
The diagnosis of ankylosing spondylitis is often made by a rheumatologist, a doctor specially trained to diagnose and treat arthritis and related conditions of the musculoskeletal system. However, because ankylosing spondylitis can affect different parts of the body, a person with the disorder may need to see several different types of doctors for treatment. In addition to a rheumatologist, there are many different specialists who treat ankylosing spondylitis. These may include:
* An ophthalmologist, who treats eye disease.
* A gastroenterologist, who treats bowel disease.
* A physiatrist, a medical doctor who specializes in physical medicine and rehabilitation.
* A physical therapist or rehabilitation specialist, who supervises stretching and exercise regimens.
Often, it is helpful to the doctors and the patient for one doctor to manage the complete treatment plan.
Can Ankylosing Spondylitis Be Cured?
There is no cure for ankylosing spondylitis, but some treatments relieve symptoms of the disorder and may possibly prevent its progression. In most cases, treatment involves a combination of medication, exercise, and selfhelp measures. In some cases, surgery may be used to repair some of the joint damage caused by the disease.
What Medications Are Used to Treat Ankylosing Spondylitis?
Several classes of medications are used to treat ankylosing spondylitis. Because there are many medication options, it’s important to work with your doctor to find the safest and most effective treatment plan for you. A treatment plan for ankylosing spondylitis will likely include one or more of the following:
Nonsteroidal Anti-Inflammatory Drugs (NSAIDs)
These drugs relieve pain and inflammation, and are commonly used to treat ankylosing spondylitis. Aspirin, ibuprofen, and naproxen are examples of NSAIDs. All NSAIDs work similarly by blocking substances called prostaglandins that contribute to inflammation and pain. However, each NSAID is a different chemical, and each has a slightly different effect on the body.
Warning: NSAIDs can cause stomach irritation or, less often, they can affect kidney function. The longer a person uses NSAIDs, the more likely he or she is to have side effects, ranging from mild to serious. Many other drugs cannot be taken when a patient is being treated with NSAIDs, because NSAIDs alter the way the body uses or eliminates these other drugs. Check with your health care provider or pharmacist before you take NSAIDs. Also, NSAIDs sometimes are associated with serious gastrointestinal problems, including ulcers, bleeding, and perforation of the stomach or intestine. People over age 65 and those with any history of ulcers or gastrointestinal bleeding should use NSAIDs with caution.
Some NSAIDs are available over the counter, but more than a dozen others, including a subclass called COX-2 inhibitors, are available only with a prescription.
All NSAIDs can have significant side effects, and for unknown reasons, some people seem to respond better to one NSAID than another. Anyone taking NSAIDs regularly should be monitored by a doctor.
Corticosteroids
These strong inflammation-fighting drugs are similar to the cortisone made by our bodies. If NSAIDs alone do not control inflammation in people with ankylosing spondylitis, doctors may inject corticosteroids directly into the affected joints to bring quick, but temporary relief. Injections may be given to the sacroiliac joint, hip joint, or knee joint, but are not given in the spine.
Disease-Modifying Antirheumatic Drugs (DMARDs)
These drugs work in different ways to control the disease process of ankylosing spondylitis. The most commonly used DMARD for ankylosing spondylitis is sulfasalazine, a drug that reduces inflammation without suppressing the immune system.
Biologic Agents
Members of this relatively new class of medications are genetically engineered to block proteins involved in the body’s inflammatory response. Four biologics— adalimumab, etanercept, golimumab, and infliximab—are approved by the Food and Drug Administration for treating ankylosing spondylitis. All four work by suppressing a protein called tumor necrosis factor-alpha (TNF-α), and are often effective for relieving symptoms when NSAIDs or other treatments are not. These drugs are taken by intravenous infusion or injection.
Will Diet and Exercise Help?
A healthy diet and exercise are good for everyone, but may be especially helpful if you have ankylosing spondylitis.
Although there is no specific diet for people with ankylosing spondylitis, maintaining a healthy weight is important for reducing stress on painful joints. In people with rheumatoid arthritis, another inflammatory joint disease, a diet high in omega-3 fatty acids (found in coldwater fish, flax seeds, and walnuts) has been shown to help in reducing joint inflammation. Although the usefulness of omega-3 fatty acids is not as well studied in people with ankylosing spondylitis, there is some evidence that omega-3 supplements could reduce disease activity in people with ankylosing spondylitis.
Exercise and stretching, when done carefully and increased gradually, may help painful, stiff joints.
* Strengthening exercises, performed with weights or done by tightening muscles without moving the joints, build the muscles around painful joints to better support them. Exercises that don’t require joint movement can be done even when your joints are painful and inflamed.
* Range-of-motion exercises improve movement and flexibility and reduce stiffness in the affected joint. If the spine is painful and/or inflamed, exercises to stretch and extend the back can be helpful in preventing long-term disability.
Many people with ankylosing spondylitis find it helpful to exercise in water.
Before beginning an exercise program, it’s important to speak with a health professional who can recommend appropriate exercises.
When Might Surgery Be Necessary, and How Can It Help?
If ankylosing spondylitis causes severe joint damage that makes it difficult to do your daily activities, total joint replacement may be an option. This involves removing the damaged joint and replacing it with a prosthesis made of metals, plastics, and/or ceramic materials. The most commonly replaced joints are the knee and hip.
In very rare cases, a procedure called osteotomy may be used to straighten a spine that has fused into a curved-forward position. This surgery involves cutting through the spine so that it can be realigned to a more vertical position. After the bones are realigned, hardware may be implanted to hold them in their new position while the spine heals.
Surgery to straighten the spine can only be done by a surgeon with significant experience in the procedure. Many doctors and surgeons consider the procedure high risk. This procedure is done more commonly in Europe than in the United States.
What Are Some Things I Can Do to Help Myself?
Aside from seeing your doctor regularly and following your prescribed treatment plan, staying active is probably the best thing you can do for ankylosing spondylitis. Regular exercise can help relieve pain, improve posture, and maintain flexibility. Before beginning an exercise program, speak with your doctor or physical therapist about designing a program that’s right for you.
Another important thing you can do for yourself is to practice good posture. A good test for posture is to check yourself in a mirror. First, stand with a full-length mirror to your side and, if possible, turn your head to look at your profile. Next, imagine you have dropped a weighted string from the top of your head to the soles of your feet. Where does the string fall? If your posture is good, it should pass through your earlobe, the front of your shoulder, the center of your hip, behind your kneecap, and in front of your anklebone. If you are not standing that way already, practice holding your body that way in front of a mirror until you know well how it feels. Practicing good posture can help you avoid some of the complications that can occur with ankylosing spondylitis.
What Is the Prognosis for People With Ankylosing Spondylitis?
The course of ankylosing spondylitis varies from person to person. Some people will have only mild episodes of back pain that come and go, while others will have chronic severe back pain. In almost all cases, the condition is characterized by acute, painful episodes and remissions, or periods of time where the pain lessens.
In the sacroiliac joints and spine, inflammation can cause pain and stiffness. Over time, bony outgrowths called syndesmophytes can develop that cause the vertebrae to grow together, or fuse. Fusion can also stiffen the rib cage, resulting in restricted lung capacity and restricted lung function.
A number of factors are associated with an ankylosing spondylitis prognosis. One study found that among people who had ankylosing spondylitis for at least 20 years, those who had physically demanding jobs, other health problems, or smoked had greater functional limitations from their disease. People with higher levels of education and a history of ankylosing spondylitis in the family tended to have less severe limitations from their disease.
A recent study supported by the NIAMS found that the likelihood of having severe joint damage increased with age at disease onset, and that men were twice as likely as women to be in that group. The study also found that current smokers were more than four times as likely to have severe damage as nonsmokers, and that having a genetic marker called DRB1*0801 seemed to protect against severe spine damage.
Research Highlights
In addition to the studies mentioned above, research has focused on finding the additional genes involved in the development of ankylosing spondylitis. In 2007, a large comprehensive genome-wide association scan led to the discovery of the genes ARTS1 and IL23R, which is bringing the scientific community closer to understanding ankylosing spondylitis. In addition, a 2010 study reported four genetic regions associated with ankylosing spondylitis risk, two of which encode for proteins that may play a role in ankylosing spondylitis susceptibility.
The IL23R gene plays a role in the immune system’s response to infection. ERAP1 (previously known as ARTS1) is involved in processing proteins in the cell into small “chunks” that can be seen—and fought—by the body’s immune system. Researchers believe the discovery could eventually lead to an understanding of the pathways that are involved in ankylosing spondylitis, and ways for doctors to inhibit or strengthen those pathways to better treat ankylosing spondylitis. In the near future, the finding could lead to a blood test to predict ankylosing spondylitis risk or aid in early diagnosis.
Scientists are also examining whether some of the newer drug therapies can stop the progression of this disorder and the disability that can occur. In the meantime, medication treatment and exercise are important for relieving the symptoms and enabling people to live well with the disorder.
Where Can I Find More Information About Ankylosing Spondylitis?
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) * Information Clearinghouse * National Institutes of Health * 1 AMS Circle * Bethesda, MD 20892-3675 * Phone: 301-495-4484 * Toll Free: 877-22-NIAMS (877-226-4267) * TTY: 301-565-2966 * Fax: 301-718-6366 * Email: NIAMSinfo@mail.nih.gov * Website: www.niams.nih.gov
The NIAMS provides information about skin diseases; arthritis and rheumatic diseases; and bone, muscle, and joint diseases. It distributes patient and professional education materials and refers people to other sources of information. Additional information and updates can be found on the NIAMS Web site.
Other Resources
American College of Rheumatology (ACR) * Web site: www.rheumatology.org
Arthritis Foundation * Web site: www.arthritis.org
Spondylitis Association of America (SAA) * Web site: www.spondylitis.org
For additional contact information, visit the NIAMS Web site or call the NIAMS Information Clearinghouse.
Key Words
Biologics. A relatively new class of medications that are genetically engineered to block a protein involved in the body’s inflammatory response. Four biologics are approved by the Food and Drug Administration for treating ankylosing spondylitis. They work by blocking a protein called tumor necrosis factor-alpha (TNF-a) that helps drive inflammation.
Calcification. A process in which tissue becomes hardened as a result of calcium deposits. In ankylosing spondylitis, calcification in tissues around the spine can lead to loss of flexibility and forward curvature.
Corticosteroids. Powerful anti-inflammatory hormones made naturally in the body or manmade for use as medicine. In people with ankylosing spondylitis, corticosteroids may be injected to temporarily reduce inflammation and relieve pain.
COX-2 inhibitors. A relatively new class of nonsteroidal anti-inflammatory drugs (NSAIDs) that are formulated to relieve pain and inflammation. Currently, there is just one COX-2 inhibitor on the market: celecoxib.
Gastroenterologist. A medical doctor who specializes in diagnosing and treating diseases of the digestive tract.
Ligaments. Tough bands of connective tissue that attach bones to each other, providing stability.
Magnetic resonance imaging (MRI). A procedure that provides high-resolution computerized images of internal body tissues. MRI uses a strong magnet that passes a force through the body to create these images.
Nonsteroidal anti-inflammatory drugs (NSAIDs). A class of medications available over the counter or with a prescription that ease pain and inflammation. Commonly used NSAIDs include aspirin, ibuprofen, and naproxen sodium.
Ophthalmologist. A medical doctor specializing in diagnosing and treating diseases of the eye.
Omega-3 fatty acids. A type of fatty acid found in fish and fish oils. Omega-3s have proven beneficial for decreasing inflammation and reducing the risk of cardiovascular disease in some people.
Osteotomy. A surgical procedure that involves cutting a bone to shorten it, lengthen it, or realign it. In rare cases, the bones of the spine may be cut and realigned to help straighten a spine that has fused in a curved-forward position due to ankylosing spondylitis.
Physiatrist. A medical doctor who specializes in nonsurgical treatment for injuries and illnesses that affect movement. Also called rehabilitation physician or rehabilitation medicine specialist.
Rheumatologist. A medical doctor who specializes in arthritis and other diseases of the bones, joints, and muscles.
Syndesmophyte. A bony growth attached to a ligament. Syndesmophytes between adjacent vertebrae in ankylosing spondylitis can cause the vertebrae to grow together, or fuse.
Tendons. Tough, fibrous cords that connect muscles to bones.
X ray. A procedure in which low-level radiation is passed through the body to produce a picture called a radiograph. X rays showing damage to the sacroiliac joints are used to help diagnose ankylosing spondylitis.
Acknowledgments
NIAMS gratefully acknowledges the assistance of the following individuals in the preparation and review of this guide: Robert Colbert, M.D., Ph.D.; Lori Guthrie, R.N.-B.C., B.S.N., C.C.R.C.; and Michael Ward, M.D.; NIAMS, NIH; and Laurie M. Savage, Executive Director, Spondylitis Association of America, Van Nuys, CA.
The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the U.S. Department of Health and Human Services’ National Institutes of Health (NIH), is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. The National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse is a public service sponsored by the NIAMS that provides health information and information sources. Additional information can be found on the NIAMS Web site at www.niams.nih.gov. Information on bone and its disorders can be obtained from the NIH Osteoporosis and Related Bone Diseases ~ National Resource Center by calling (toll free) 800–624–BONE (2663) or by visiting its Web site at www.bones.nih.gov.
For Your Information
This guide contains information about medications used to treat the health condition discussed here. When this guide was printed, we included the most up-to-date (accurate) information available. Occasionally, new information on medication is released.
For updates and for any questions about any medications you are taking, please contact the U.S. Food and Drug Administration at
U.S. Food and Drug Administration * Web site: www.fda.gov/
Publication Date: November 2010
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What Is Ankylosing Spondylitis? * Fast Facts: An Easy-to-Read Series of Publications for the Public
Publication Date: April 2011
Ankylosing spondylitis (AS) is a form of arthritis that affects the joints in the spine. Its name comes from the Greek words ankylos, meaning stiffening of a joint, and spondylo, meaning vertebra. Spondylitis causes inflammation (redness, heat, swelling, and pain) in the spine or vertebrae. AS often involves an inflamed sacroiliac (SI) joint, where the spine joins the pelvis.
In some people, the condition can affect other joints. The shoulders, ribs, hips, knees, and feet can be affected. It can also affect places where the tendons and ligaments attach to the bones. Sometimes it can affect other organs such as the eyes, bowel, and very rarely, the heart and lungs.
Many people who have AS have mild back pain that comes and goes. Others have severe, ongoing pain. Sometimes they lose flexibility in the spine. In the most severe cases, the swelling can cause two or more bones of the spine to fuse. This may stiffen the rib cage, restricting lung capacity.
Who Gets Ankylosing Spondylitis?
AS usually begins in the teen or young adult years. Most people who have the disease get symptoms before age 30. Only five percent get symptoms after age 45. It affects people for the rest of their lives. And it affects about twice as many men as women.
What Causes Ankylosing Spondylitis?
The cause of AS is unknown. It’s likely that genes (passed from parents to children) and the environment both play a role. The main gene associated with the risk for AS is called HLA-B27. Having the gene doesn’t mean you will get AS. Fewer than 1 of 20 people with HLA-B27 gets AS. Scientists recently discovered two more genes (IL23R and ERAP1) that, along with HLA-B27, carry a genetic risk for AS.
How Is Ankylosing Spondylitis Diagnosed?
To diagnose AS, your doctor will need:
* A medical history
* A physical exam
* X rays or MRIs
* Blood tests.
What Type of Doctor Diagnoses and Treats Ankylosing Spondylitis?
Often, a rheumatologist will diagnose AS. This is a doctor trained to treat arthritis and related conditions. Because AS can affect different parts of your body, you may need to see more than one doctor. Some other types of doctors who treat the symptoms of AS are:
* An ophthalmologist, who treats eye disease.
* A gastroenterologist, who treats bowel disease.
* A physiatrist, who specializes in physical medicine and rehabilitation.
* A physical therapist, who provides stretching and exercise regimens.
Can Ankylosing Spondylitis Be Cured?
There is no cure for AS. Some treatments relieve symptoms and may keep the disease from getting worse. In most cases, treatment involves medicine, exercise, and self-help measures. In some cases, surgery can repair some joint damage.
What Medicines Are Used to Treat Ankylosing Spondylitis?
Several types of medicines are used to treat AS. It is important to work with your doctor to find the safest and most effective medication for you. Medicines for AS include:
* Nonsteroidal anti-inflammatory drugs (NSAIDs). These drugs relieve pain and swelling. Aspirin, ibuprofen, and naproxen are examples of NSAIDs.
* Corticosteroids. These strong drugs are similar to the cortisone made by your body. They fight inflammation.
* Disease-modifying antirheumatic drugs (DMARDs). These drugs work in different ways to reduce inflammation in AS.
* Biologic agents. These are relatively new types of medicine. They block proteins involved with inflammation in the body.
Will Diet and Exercise Help?
A healthy diet and exercise are good for everyone, and they may be very helpful if you have AS. There is no specific diet for people with AS, but keeping a healthy weight is important. It reduces stress on painful joints. Omega-3 fatty acids, found in coldwater fish (such as tuna and salmon), flax seeds, and walnuts, might reduce disease activity. This is still being studied.
Exercise and stretching may help painful, stiff joints. It should be done carefully and increased gradually. Before beginning an exercise program, it’s important to speak with a doctor who can tailor exercises to your needs. Two types of exercises may help:
* Strengthening exercises
* Range-of-motion exercises.
Many people with AS find it helpful to exercise in water.
Will Surgery Be Necessary?
If AS causes joint damage that makes daily activities difficult, joint replacement may be an option. The most commonly replaced joints are the knee and hip.
In very rare cases, surgery to straighten the spine may be recommended. This can only be done by a surgeon with quite a lot of experience in the procedure.
What Can I Do to Help Myself?
These are important things you can do:
* See your doctor regularly.
* Follow your prescribed treatment plan.
* Stay active with regular exercise.
* Practice good posture.
* Don’t smoke.
What Research Is Being Done on Ankylosing Spondylitis?
Researchers are seeking a better understanding of AS. They are studying:
* Lifestyle and other factors that lead to better or worse outcomes.
* Genes associated with AS risk.
* Development of blood tests to predict AS risk or to aid in early diagnosis.
* New drug therapies for AS.
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Arthritis
Publication Date: February 2002 * Revised: October 2008
Questions and Answers about Arthritis and Rheumatic Diseases
This guide answers basic questions about arthritis and rheumatic diseases. The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has other fact sheets and guides that provide more information about specific forms of arthritis and rheumatic diseases.
If you have further questions after reading this information, you may wish to discuss them with your doctor.
What Is Arthritis and What Are Rheumatic Diseases?
Arthritis literally means joint inflammation. Although joint inflammation describes a symptom or sign rather than a specific diagnosis, the term “arthritis” is often used to refer to any disorder that affects the joints. These disorders fall within the broader category of rheumatic diseases. These are diseases characterized by inflammation (signs include redness or heat, swelling, and symptoms such as pain) and loss of function of one or more connecting or supporting structures of the body. These diseases especially affect joints, tendons, ligaments, bones, and muscles. Common signs and symptoms are pain, swelling, and stiffness. Some rheumatic diseases also can involve internal organs.
There are more than 100 rheumatic diseases. Some are described as connective tissue diseases because they affect the supporting framework of the body and its internal organs. Others are known as autoimmune diseases because they occur when the immune system, which normally protects the body from infection and disease, harms the body’s own healthy tissues. Throughout this guide, the terms “arthritis” and “rheumatic diseases” are used interchangeably.
The burden of arthritis in the United States is enormous. More than 46 million people in the United States have arthritis or other rheumatic conditions. Adults with arthritis and other rheumatic conditions incurred mean medical care expenditures of $6,978 in 2003, of which $1,635 was for prescriptions. Expenditures for adults with arthritis and other rheumatic conditions totaled $321.8 billion in 2003. Persons age 18 to 64 with arthritis and other rheumatic conditions earned $3,613 less than other persons. Of this amount, $1,590 in lost wages was attributable to arthritis and other rheumatic conditions.
What Are Some Examples of Rheumatic Diseases?
Osteoarthritis – This is the most common type of arthritis, affecting an estimated 27 million adults in the United States. Osteoarthritis affects both the cartilage, which is the tissue that cushions the ends of bones within the joint, as well as the underlying bone. In osteoarthritis, there is damage to the cartilage, which begins to fray and may wear away entirely. There is also damage to the bond stock of the joint. Osteoarthritis can cause joint pain and stiffness. Disability results most often when the disease affects the spine and the weight-bearing joints (the knees and hips).
Rheumatoid arthritis – This inflammatory disease of the immune system targets first the synovium, or lining of the joint, resulting in pain, stiffness, swelling, joint damage, and loss of function of the joints. Inflammation most often affects joints of the hands and feet and tends to be symmetrical (occurring equally on both sides of the body). This symmetry helps distinguish rheumatoid arthritis from other forms of the disease. About 0.6 percent of the U.S. population (about 1.3 million people) has rheumatoid arthritis.
Juvenile idiopathic arthritis – This disease is the most common form of arthritis in childhood, causing pain, stiffness, swelling, and loss of function of the joints. This condition may be associated with rashes or fevers and may affect various parts of the body.
Fibromyalgia – Fibromyalgia is a chronic disorder that causes pain throughout the tissues that support and move the bones and joints. Pain, stiffness, and localized tender points occur in the muscles and tendons, particularly those of the neck, spine, shoulders, and hips. Patients also may experience fatigue and sleep disturbances. Fibromyalia affects millions of adults in the United States.
Systemic lupus erythematosus – Systemic lupus erythematosus (also known as lupus or SLE) is an autoimmune disease in which the immune system harms the body’s own healthy cells and tissues. This can result in inflammation of and damage to the joints, skin, kidneys, heart, lungs, blood vessels, and brain. By conservative estimates, lupus affects about 150,000 people.
Scleroderma – Also known as systemic sclerosis, scleroderma means literally “hard skin.” The disease affects the skin, blood vessels, and joints. It may also affect internal organs, such as the lungs and kidneys. In scleroderma, there is an abnormal and excessive production of collagen (a fiber-like protein) in the skin and internal organs.
Spondyloarthropathies – This group of rheumatic diseases principally affects the spine. One common form – ankylosing spondylitis – also may affect the hips, shoulders, and knees. The tendons and ligaments around the bones and joints become inflamed, resulting in pain and stiffness. Ankylosing spondylitis tends to affect people in late adolescence or early adulthood. Reactive arthritis, sometimes called Reiter’s syndrome, is another spondyloarthropathy. It develops after an infection involving the lower urinary tract, bowel, or other organ. It is commonly associated with eye problems, skin rashes, and mouth sores.
Infectious arthritis – This is a general term used to describe forms of arthritis that are caused by infectious agents, such as bacteria or viruses. Parvovirus arthritis and gonococcal arthritis are examples of infectious arthritis. Arthritis symptoms also may occur in Lyme disease, which is caused by a bacterial infection following the bite of certain ticks. In those cases of arthritis caused by bacteria, early diagnosis and treatment with antibiotics are crucial to removing the infection and minimizing damage to the joints.
Gout – This type of arthritis results from deposits of needle-like crystals of uric acid in the joints. The crystals cause episodic inflammation, swelling, and pain in the affected joint, which is often the big toe. An estimated 2.1 million Americans have gout.
Polymyalgia rheumatica – Because this disease involves tendons, muscles, ligaments, and tissues around the joint, symptoms often include pain, aching, and morning stiffness in the shoulders, hips, neck, and lower back. It is sometimes the first sign of giant cell arteritis, a disease of the arteries characterized by headaches, inflammation, weakness, weight loss, and fever.
Polymyositis – This rheumatic disease causes inflammation and weakness in the muscles. The disease may affect the whole body and cause disability.
Psoriatic arthritis – This form of arthritis occurs in some patients with psoriasis, a scaling skin disorder. Psoriatic arthritis often affects the joints at the ends of the fingers and toes and is accompanied by changes in the fingernails and toenails. Back pain may occur if the spine is involved.
Bursitis – This condition involves inflammation of the bursae, small, fluid-filled sacs that help reduce friction between bones and other moving structures in the joints. The inflammation may result from arthritis in the joint or injury or infection of the bursae. Bursitis produces pain and tenderness and may limit the movement of nearby joints.
Tendinitis (tendonitis) – This condition refers to inflammation of tendons (tough cords of tissue that connect muscle to bone) caused by overuse, injury, or a rheumatic condition. Tendinitis produces pain and tenderness and may restrict movement of nearby joints.
What Causes Rheumatic Diseases?
Rheumatic diseases are generally believed to be caused by a combination of genetic and environmental factors. In other words, you may be born with a susceptibility to a disease, but it may take something in your environment to get the disease started.
Some of these factors have been identified. For example, in osteoarthritis, inherited cartilage weakness or excessive stress on the joint from repeated injury may play a role. In rheumatoid arthritis, juvenile idiopathic arthritis, and lupus, patients may have a variation in a gene that codes for an enzyme called protein tyrosine phosphatase nonreceptor 22 (PTPN22).
Certain viruses may trigger disease in genetically susceptible people. For example, scientists have found a connection between Epstein-Barr virus and lupus. There are likely many genes and combinations of genes that predispose people to rheumatic diseases, and many different environmental factors that trigger them.
Gender is another factor in some rheumatic diseases. Lupus, rheumatoid arthritis, scleroderma, and fibromyalgia are more common among women. (See next section for details.) This indicates that hormones or other male-female differences may play a role in the development of these conditions.
Who Is Affected by Rheumatic Diseases?
An estimated 46 million people in the United States have arthritis or other rheumatic conditions. By the year 2020, this number is expected to reach 60 million. Rheumatic diseases are a more frequent cause of activity limitation than heart disease, cancer, or diabetes.
Rheumatic diseases affect people of all races and ages. Some rheumatic conditions are more common among certain populations. For example:
* Rheumatoid arthritis occurs two to three times more often in women than in men.
* Scleroderma is more common in women than in men.
* Nine out of 10 people who have lupus are women.
* Nine out of 10 people who have fibromyalgia are women.
* Gout is more common in men than in women. After menopause, the incidence of gout for women begins to rise.
* Systemic lupus erythematosus is more common in women than in men, and it occurs more often in African Americans and Hispanics than in Caucasians.
What Are the Signs and Symptoms of Arthritis and Rheumatic Diseases?
Different types of arthritis and rheumatic diseases have different signs and symptoms. In general, people who have arthritis feel pain and stiffness in the joints. Some of the more common symptoms are listed in the box below. Early diagnosis and treatment help decrease further joint damage and help control symptoms of arthritis and many other rheumatic diseases.
How Are Rheumatic Diseases Diagnosed?
Diagnosing rheumatic diseases can be difficult because some symptoms and signs are common to many different diseases. A general practitioner or family doctor may be able to evaluate a patient or refer him or her to a rheumatologist (a doctor who specializes in treating arthritis and other rheumatic diseases).
Common Signs and Symptoms of Arthritis
* swelling in one or more joints
* stiffness around the joints that lasts for at least 1 hour in the early morning
* constant or recurring pain or tenderness in a joint
* difficulty using or moving a joint normally
* warmth and redness in a joint
The doctor will review the patient’s medical history, conduct a physical examination, and obtain laboratory tests and x rays or other imaging tests. The doctor may need to see the patient more than once and possibly a number of times to make an accurate diagnosis.
Medical History
It is vital for people with joint pain to give the doctor a complete medical history. Answers to the following questions will help the doctor make an accurate diagnosis:
* Is the pain in one or more joints?
* When does the pain occur?
* How long does the pain last?
* When did you first notice the pain?
* What were you doing when you first noticed the pain?
* Does activity make the pain better or worse?
* Have you had any illnesses or accidents that may account for the pain?
* Are you experiencing any other symptoms besides pain?
* Is there a family history of arthritis or other rheumatic disease?
* What medicine(s) are you taking?
* Have you had any recent infections?
Because rheumatic diseases are so diverse and sometimes involve several parts of the body, the doctor may ask many other questions.
It may be helpful for people to keep a daily journal that describes the pain. Patients should write down what the affected joint looks like, how it feels, how long the pain lasts, and what they were doing when the pain started.
Physical Examination and Laboratory Tests
The doctor will examine the patient’s joints for redness, warmth, damage, ease of movement, and tenderness. Because some forms of arthritis, such as lupus, may affect internal organs, a complete physical examination that includes the heart, lungs, abdomen, nervous system, eyes, ears, mouth, and throat may be necessary. The doctor may order some laboratory tests to help confirm a diagnosis. Samples of blood, urine, or synovial fluid (lubricating fluid found in the joint) may be needed for the tests. Many of these same tests may be useful later for monitoring the disease or the effectiveness of treatments.
Common laboratory tests and procedures include the following:
Antinuclear antibody (ANA) – This test checks blood levels of antibodies that are often present in people who have connective tissue diseases or other autoimmune disorders, such as lupus. Because the antibodies react with material in the cell’s nucleus (control center), they are referred to as antinuclear antibodies. There are also tests for individual types of ANAs that may be more specific to people with certain autoimmune disorders. ANAs are also sometimes found in people who do not have an autoimmune disorder. (In such cases, the result is referred to as a “false positive.”) Therefore, having ANAs in the blood does not necessarily mean that a person has a disease.
CCP (or anti-CCP) – This test checks blood levels of antibodies to citrulline, a protein that can be detected in up to 70 percent of people in the early stages of rheumatoid arthritis. Because the presence of anti-CCPs is associated with more aggressive disease, the test can also be useful in helping doctors plan treatment.
C-reactive protein test – This nonspecific test is used to detect generalized inflammation. Levels of the protein are often increased in patients with active disease such as rheumatoid arthritis or any other disease that causes inflammation.
Complement – This test measures the level of complement, a group of proteins in the blood. Complement helps destroy germs and other foreign substances that enter the body. A low blood level of complement is common in people who have active lupus.
Complete blood count (CBC) – This test determines the number of white blood cells, red blood cells, and platelets present in a sample of blood. Some rheumatic conditions or drugs used to treat arthritis are associated with a low white blood count (leukopenia), low red blood count (anemia), or low platelet count (thrombocytopenia).
Creatinine – This blood test measures the level of creatinine, a breakdown product of creatine, which is an important component of muscle. Creatinine is excreted from the body entirely by the kidneys, and the level remains constant and normal when kidney function is normal. This test is commonly used to diagnose and monitor kidney disease in patients who have a rheumatic condition such as lupus.
Erythrocyte sedimentation rate (sed rate or ESR) – This blood test is used to detect inflammation in the body. Higher sed rates, indicating the presence of inflammation, are typical of many forms of arthritis, such as rheumatoid arthritis and ankylosing spondylitis. Higher sed rates are also typical of many of the immunologic connective tissue diseases, such as lupus and scleroderma.
Hematocrit (PCV, packed cell volume) – This test and the test for hemoglobin (a substance in the red blood cells that carries oxygen throughout the body) measure the number of red blood cells present in a sample of blood. A decrease in the number of red blood cells (anemia) is common in people who have inflammatory arthritis or another rheumatic disease.
Rheumatoid factor – This test detects the presence of rheumatoid factor, an antibody found in the blood of most (but not all) people who have rheumatoid arthritis. In rheumatoid arthritis, it is associated with more aggressive disease. Rheumatoid factor may be found in many diseases besides rheumatoid arthritis and sometimes in people without health problems. (In the latter case, the result is referred to as a “false positive.”)
Synovial fluid examination – Synovial fluid may be examined for white blood cells (found in patients with rheumatoid arthritis and infections), bacteria or viruses (found in patients with infectious arthritis), or crystals in the joint (found in patients with gout or other types of crystal-induced arthritis). To obtain a specimen, the doctor injects a local anesthetic, then inserts a needle into the joint to withdraw the synovial fluid into a syringe. The procedure is called arthrocentesis or joint aspiration.
Urinalysis – In this test, a urine sample is studied for protein, red blood cells, white blood cells, and bacteria. These abnormalities may indicate kidney disease, which may be seen in lupus as well as several rheumatic conditions. Some medications used to treat arthritis also can cause abnormal findings on urinalysis.
X Rays and Other Imaging Procedures
To see what the joint looks like inside, the doctor may order x rays or other imaging procedures. X rays provide an image of the bones, but they do not show cartilage, muscles, and ligaments. Other noninvasive imaging methods such as computed tomography (CT or CAT scan), magnetic resonance imaging (MRI), and arthrography show the whole joint. The doctor also may look for damage to a joint by using an arthroscope: a small, flexible tube which is inserted through a small incision at the joint. The arthroscope transmits the image from inside the joint to a video screen.
What Are the Treatments?
Treatments for rheumatic diseases include rest and relaxation, exercise, proper diet, medication, and instruction about the proper use of joints and ways to conserve energy. Other treatments include the use of pain relief methods and assistive devices, such as splints or braces. In severe cases, surgery may be necessary. The doctor and the patient develop a treatment plan that helps the patient maintain or improve his or her lifestyle. Treatment plans usually combine several types of treatment and vary depending on the rheumatic condition and the patient.
Rest, Exercise, and Diet
People who have a rheumatic disease should develop a comfortable balance between rest and activity. One sign of many rheumatic conditions is fatigue. Patients must pay attention to signals from their bodies. For example, when experiencing pain or fatigue, it is important to take a break and rest. Too much rest, however, may cause muscles to become weak and joints to become stiff.
People with a rheumatic disease such as arthritis can participate in a variety of sports and exercise programs. Physical exercise can reduce joint pain and stiffness and increase flexibility, muscle strength, and endurance. Exercise also can result in weight loss, which in turn reduces stress on painful joints and contributes to an improved sense of well-being. Before starting any exercise program, people with arthritis should talk with their doctor.
Doctors often recommend getting exercise in each of these three categories. The benefits listed below often reinforce each other.
* Range-of-motion exercises (e.g., stretching, dance) help maintain normal joint movement, maintain or increase flexibility, and relieve stiffness.
* Strengthening exercises (e.g., weight lifting) maintain or increase muscle strength. Strong muscles help support and protect joints affected by arthritis.
* Aerobic or endurance exercises (e.g., walking, bicycle riding, swimming) improve cardiovascular fitness, help control weight, improve strength, and improve overall well-being. Studies show that aerobic exercise can also reduce inflammation in some joints.
Another important part of a treatment program is a well-balanced diet. Along with exercise, a well-balanced diet helps people manage their body weight and stay healthy. Diet is especially important for people who have gout. People with gout should avoid alcohol and foods that are high in purines, such as organ meats (liver, kidney), sardines, anchovies, and gravy.
Medications
A variety of medications are used to treat rheumatic diseases. The type of medication depends on the rheumatic disease and on the individual patient. The medications used to treat most rheumatic diseases do not provide a cure, but rather limit the symptoms of the disease. One exception is infectious arthritis, which can be cured if medications are used properly. Another exception is Lyme disease, which is spread by the bite of certain ticks: If the infection is caught early and treated with antibiotics, symptoms of arthritis may be prevented or may disappear.
Medications commonly used to treat rheumatic diseases provide relief from pain and inflammation. In some cases, especially when a person has rheumatoid arthritis or another type of inflammatory arthritis, the medication may slow the course of the disease and prevent further damage to joints or other parts of the body.
The doctor may delay using medications until a definite diagnosis is made because medications can hide important symptoms or signs (such as fever and swelling) and thereby interfere with diagnosis. Patients taking any medication, either prescription or over the counter, should always follow the doctor’s instructions. The doctor should be notified immediately if the medicine is making the symptoms worse or causing other problems, such as upset stomach, nausea, or headache. The doctor may be able to change the dosage or medicine to reduce these side effects.
Following are some of the types of medications commonly used in the treatment of rheumatic diseases.
Analgesics – Analgesics (pain relievers) such as acetaminophen (Tylenol) are often used to reduce the pain caused by many rheumatic conditions. For severe pain or pain following surgery or a fracture, doctors may prescribe stronger prescription or narcotic analgesics.
Brand names included in this guide are provided as examples only, and their inclusion does not mean that these products are endorsed by the National Institutes of Health or any other Government agency. Also, if a particular brand name is not mentioned, this does not mean or imply that the product is unsatisfactory.
Topical analgesics – People who cannot take oral pain relievers or who continue to have some pain after taking them may find topical analgesics helpful. These creams or ointments are rubbed into the skin over sore muscles or joints and relieve pain through one or more active ingredients. These are the most common:
* Counterirritants – These ingredients, such as menthol, oil of wintergreen, eucalyptus oil, or camphor, work by irritating the nerve endings in the skin. This distracts the brain from the deeper source of pain. They are found in many products such as Eucalyptamint and Icy Hot.
* Salicylates – This ingredient works like aspirin, by blocking chemicals in the body that contribute to pain. Salicylates are found in Aspercreme, BenGay, Flexall, and several other over-the-counter preparations.
* Capsaicin – This natural ingredient found in cayenne peppers is an effective pain reliever for many. It is available in a number of products, including Zostrix and Capzasin-P.
Nonsteroidal anti-inflammatory drugs (NSAIDS) – A large class of medications useful against both pain and inflammation, NSAIDs are staples in arthritis treatment. A number of NSAIDs – such as ibuprofen (Advil, Motrin), naproxen sodium (Aleve), and ketoprofen (Orudis, Oruvail) are available over the counter. More than two dozen others, including a subclass of NSAIDs called COX-2 inhibitors, are available only with a prescription.
All NSAIDs work similarly: by blocking substances called prostaglandins that contribute to inflammation and pain. However, each NSAID is a different chemical, and each has a slightly different effect on the body.
Warning: NSAIDs can cause stomach irritation or, less often, they can affect kidney function. The longer a person uses NSAIDs, the more likely he or she is to have side effects, ranging from mild to serious. Many other drugs cannot be taken when a patient is being treated with NSAIDs because NSAIDs alter the way the body uses or eliminates these other drugs. Check with your health care provider or pharmacist before you take NSAIDs. Also, NSAIDs sometimes are associated with serious gastrointestinal problems, including ulcers, bleeding, and perforation of the stomach or intestine. People age 65 and older, as well as those with any history of ulcers or gastrointestinal bleeding, should use NSAIDs with caution.
The Food and Drug Administration has warned that long-term use of NSAIDs, or use by people who have heart disease, may increase the chance of a heart attack or stroke. So it’s important to work with your doctor to choose the one that’s safest and most effective for you. Side effects also may include stomach upset and stomach ulcers, heartburn, diarrhea, fluid retention, hypertension, and kidney damage. For unknown reasons, some people seem to respond better to one NSAID than another.
Disease-modifying antirheumatic drugs (DMARDs) – A family of medicines that are used to treat inflammatory arthritis like rheumatoid arthritis and ankylosing spondylitis, DMARDs may be able to slow or stop the immune system from attacking the joints. This in turn decreases pain and swelling. DMARDs typically require regular blood tests to monitor side effects, which may include increased risk of infection. In addition to relieving signs and symptoms, DMARDs may help to retard or even stop joint damage from progressing. However, DMARDs cannot fix joint damage that has already occurred. Some of the most commonly prescribed DMARDs are methotrexate, hydroxychloroquine, sulfasalazine, and leflunomide.
Biologic response modifiers – Biologic response modifiers, or biologics, are a new family of genetically engineered drugs that block specific molecular pathways of the immune system that are involved in the inflammatory process. They are often prescribed in combination with DMARDs such as methotrexate. Because biologics work by suppressing the immune system, they could be problematic for patients who are prone to frequent infection. They are typically administered by injection at home or by intravenous infusion at a clinic. Some commonly prescribed biologics include etanercept, adalimumab, infliximab, abatacept, and rituximab.
Corticosteroids – Corticosteroids, such as prednisone, cortisone, solumedrol, and hydrocortisone, are used to treat many rheumatic conditions because they decrease inflammation and suppress the immune system. The dosage of these medications as well as their method of administration will vary depending on the diagnosis and the patient. Again, the patient and doctor must work together to determine the right amount of medication.
Corticosteroids can be given by mouth, in creams applied to the skin, intravenously, or by injection directly into the affected joint(s). Short-term side effects of corticosteroids include swelling, increased appetite, weight gain, and emotional ups and downs. These side effects generally stop when the drug is stopped. It can be dangerous to stop taking corticosteroids suddenly, so it is very important that the doctor and patient work together when changing the corticosteroid dose. Side effects that may occur after long-term use of corticosteroids include stretch marks, excessive hair growth, osteoporosis, high blood pressure, damage to the arteries, high blood glucose, infections, and cataracts.
Hyaluronic acid substitutes – Hyaluronic acid products, such as Hyalgan and Synvisc, mimic a naturally occurring body substance that serves to lubricate joints and is believed to be deficient in joints with osteoarthritis. Depending on the particular product, patients receive a series of three to five injections, which are administered directly into the affected knee(s) or hip(s) to help provide temporary relief of pain and flexible joint movement.
Medical Devices
A number of devices may be used to treat some rheumatic diseases. For example, transcutaneous electrical nerve stimulation (TENS) has been found effective in modifying pain perception. TENS blocks pain messages to the brain with a small device that directs mild electric pulses to nerve endings that lie beneath the painful area of the skin.
Some health care facilities use a blood-filtering device called the Prosorba Column to filter out harmful antibodies in people with severe rheumatoid arthritis.
Heat and Cold Therapies
Heat and cold can both be used to reduce the pain and inflammation of arthritis. The patient and doctor can determine which one works best.
Heat therapy increases blood flow, tolerance for pain, and flexibility. Heat therapy can involve treatment with paraffin wax, microwaves, ultrasound, or moist heat. Physical therapists are needed for some of these therapies, such as microwave or ultrasound therapy, but patients can apply moist heat themselves. Some ways to apply moist heat include placing warm towels or hot packs on the inflamed joint or taking a warm bath or shower.
Cold therapy numbs the nerves around the joint (which reduces pain) and may relieve inflammation and muscle spasms. Cold therapy can involve cold packs, ice massage, soaking in cold water, or over-the-counter sprays and ointments that cool the skin and joints.
Hydrotherapy, Mobilization Therapy, and Relaxation Therapy
Hydrotherapy involves exercising or relaxing in warm water. The water takes some weight off painful joints, making it easier to exercise. It helps relax tense muscles and relieve pain.
Mobilization therapies include traction (gentle, steady pulling), massage, and manipulation. (Someone other than the patient moves stiff joints through their normal range of motion.) When done by a trained professional, these methods can help control pain, increase joint motion, and improve muscle and tendon flexibility.
Relaxation therapy helps reduce pain by teaching people various ways to release muscle tension throughout the body. In one method of relaxation therapy, known as progressive relaxation, the patient tightens a muscle group and then slowly releases the tension. Doctors and physical therapists can teach patients a variety of relaxation techniques.
Splints and Braces
Splints and braces are used to support weakened joints or allow them to rest. Some prevent the joint from moving; others allow some movement. A splint or brace should be used only when recommended by a doctor or therapist, who will explain to the patient when and for how long the device should be worn. The doctor or therapist also will demonstrate the correct way to put it on and will ensure that it fits properly. The incorrect use of a splint or brace can cause joint damage, stiffness, and pain.