As I sit next to my sister, Natalie, she seems saddened as she tells the story that started her difficult journey of dealing with a lifelong disease. As she describes it, “At the young age of 13, when my girlfriends were thinking about an upcoming 1950s-genre sock hop, I found myself in a Milwaukee back brace to treat a curvature of my spine called scoliosis. The brace keeps the spine virtually immobile. It held my head in alignment with metal bars, clear down to a plastic mold over my hips. I wore the brace for two years and the kids in my school would ask if I had been in a car wreck.
I later started high school in new Nike tennis shoes and the awkward metal brace. When I was a sophomore, I developed a severe bowel inflammation episode which the doctor thought was bacterial dysentery. It was awful, and little did I know that this was the start of a series of problems that are all part of a chronic disease. About two weeks later, I developed painful swelling in my right knee. It was severe enough to require removal of an unusually large amount of synovial fluid. A few days after the right knee seemed to heal, the left knee swelled up.
The same pattern continued for the next several years and the doctors said it was just arthritis. I then developed an eye infection called iritis in my right eye. It was so severe that it needed daily cortisone injections for 10 days, eye drops and resting in complete darkness. For the next four years, I experienced severe hip (sacroiliac (SI)) pain that made walking difficult. A pelvic X-ray was taken, which showed fusion in one of the SI joints. I was tested and found positive for the HLAB27 gene.
The rheumatologist changed the diagnosis from arthritis to a definitive Ankylosing Spondylitis which is a debilitating, painful disease, without a cure, that would continue to worsen throughout my life and would most likely end with me crippled and in a wheelchair” (Rasmussen, 2010) Ankylosing Spondylitis (AS) is a ruthless, genetic disease that makes life very painful and difficult for those affected by it. AS affects as many as 2. 4 million people in the US today, which is more than multiple sclerosis, cystic fibrosis and Lou Gehrig’s disease combined.
Scientists are currently attempting to find out what this disease is, how it is contracted, and what can be done to help those who have AS manage their pain, avoid further bodily damage and hopefully find a cure. Pathophysiology: Ankylosing Spondylitis Ankylosing Spondylitis (AS) is a chronic inflammatory arthritis and an autoimmune disease. An autoimmune disease is when the body’s natural immune system, that is supposed to fight against germs or foreign cells that enter your body, mistake its own healthy cells as being invaders and attack them.
This can affect any part of the body or many parts of the body at the same time. In the case of Ankylosing Spondylitis, the immune system attacks its own cells causing arthritis of the spine, sacroiliac (hip) joints and can cause inflammation of the eyes, lungs, and heart valves. It varies from intermittent episodes of back pain that occur throughout life to a severe chronic disease that attacks the spine, peripheral joints and other body organs, resulting in severe joint and back stiffness, loss of motion and deformity as life progresses. Signs and symptoms
The beginning physical signs of AS usually start to appear in late adolescence or early adulthood (ages 17-35), but the symptoms can occur in younger children or much later in life as well. The first symptoms of AS can include frequent pain and stiffness in the lower back and buttocks, and symptoms come on gradually over the course of a few weeks or months. At first, discomfort may only be felt on one side, or alternate sides. The pain is usually dull and diffuse, rather than localized. This pain and stiffness is usually worse in the mornings and during the night, but may be improved by a warm shower or light exercise.
Also, in the early stages of AS, there may be mild fever, loss of appetite and general discomfort. Many people with AS also experience bowel inflammation and iritis or uveitis (inflammation of the eyes). About one third of people with AS will experience inflammation of the eye at least once. Signs of iritis or uevitis are: Eye(s) becoming painful, watery, red and individuals may experience blurred vision and sensitivity to bright light (Van der Linden S, 2009). Varying levels of fatigue may also result from the inflammation caused by AS. The body must use extra energy to deal with the inflammation, thus causing fatigue.
Mild to moderate anemia, may result from the inflammation, which can contribute to an overall feeling of tiredness. In a minority of individuals, the pain does not start in the lower back, but in a peripheral joint such as the hip, ankle, elbow, knee, heel or shoulder. This pain is commonly caused by enthesitis, which is the inflammation of the site where a ligament or tendon attaches to bone. Inflammation and pain in peripheral joints is more common in juveniles with AS. This can be confusing since, without the immediate presence of back pain, AS may look like some other form of arthritis. AS is more common in young men than in women.
Typically, 1 in 200 men have AS, whereas 1 in 500 women have the disease. The symptoms or pattern of the disease are different in women. Quoting Dr. Elaine Adams, “Women often present in a little more atypical fashion so it’s even harder to make the diagnoses in women. For example, some women with AS have stated that their symptoms started in the neck rather than in the lower back” (Adams, 2010). The pain normally becomes persistent (chronic), is felt on both sides, and lasts for at least three months. Over the course of months or years, the stiffness and pain can spread up the spine and into the neck.
Pain and tenderness spreading to the ribs, shoulder blades, hips, thighs and heels is possible as well. Advanced AS sufferers eventually experience lack of spinal mobility due to spinal fusion. Spinal fusion occurs when damage to the joint and surrounding bone causes calcium to build up which acts like a cement to keep the bones from grinding together. Fusion eliminates the pain caused by the bones grinding together, but creates the complication of limited flexibility or immobility. Diagnosis There is no direct test to diagnose AS. A clinical examination and X-ray[->0] studies of the spine, are the major diagnostic tools.
A drawback of X-ray diagnosis is that signs and symptoms of AS have usually been established as long as 8–10 years prior for changes to be seen on a plain film X-ray, which means a delay of as long as 10 years before adequate therapies and treatments can be introduced. Options for earlier diagnosis are tomography[->1] and magnetic resonance imaging[->2] (MRI) of the sacroiliac joints, but the reliability of these tests is still unclear. Also, MRI can be cost prohibitive (Thomas E, 1998, pp. 343-7). A physical examination by a doctor or rheumatologist is necessary in properly diagnosing AS.
The examination would entail looking for sites of inflammation, and checking for pain and tenderness along the back, pelvic bones, sacroiliac joints, chest and heels. Other symptoms and indicators are also taken into account, including a history of iritis or uveitis (inflammation of the eye), a history of gastrointestinal infections (for example, the presence of Crohn’s Disease or ulcerative colitis), a family history of AS, as well as fatigue due to the presence of inflammation. The Schober’s test[->3] is a useful clinical measure of flexion of the lumbar spine performed during examination.
Ankylosing Spondylitis is considered a genetic disease and studies have linked AS with a genetic marker called HLA-B27. However, testing positive for this marker is not a guarantee that a person will contract the disease. Approximately 90% of AS patients carry the HLA-B27 marker but 10% who exhibit AS disease characteristics do not. The association between AS and HLA-B27 varies in different ethnic and racial groups. 95% of people in the Caucasian population who have AS test HLA-B27 positive. However, only 50% of African American patients with AS possess HLA-B27 marker.
Therefore, 5% of Caucasians and 50% of African Americans who have AS do not carry the HLA-B27 marker. In 2007, a collaborative effort by an international team of researchers in the U. K. , Australia and the United States led to the discovery of two genes, ARTS1 and IL23R[->4], that also contribute to the cause of AS. The findings were published in the November 2007 edition of Nature Genetics, a journal that emphasizes research on the genetic basis for common and complex diseases (Brionez TF, 2008, pp. 348-91). Together with HLA-B27, these two genes account for roughly 70% of the overall incidence of the disease.
Treatment with Medications There are many medications available to treat AS and its symptoms. Depending on the stage of the disease and its rate of progression, different medications are recommended. People respond to medications with varying levels of effectiveness, thus it may take time to find the most effective medication for treating someone with Ankylosing Spondylitis. Nonsteroidal Anti-Inflammatory Drugs (NSAIDs) NSAIDs are the most commonly used class of medication used in treating the inflammation and swelling associated with AS and thus reduce pain and stiffness.
For example, Ibuprofen is a generic NSAID and is found in over-the-counter pain relievers such as Advil and Motrin. They commonly come in tablet form and are taken orally. Sometimes high doses of NSAIDs are needed to maintain relief from the symptoms of Ankylosing Spondylitis. This can pose a problem in that NSAIDs can cause significant side effects, especially in the gastrointestinal tract (stomach, intestines, etc. ). NSAIDs can cause reduction in the protective mucus in the stomach, which can cause stomach irritation. In time, this can lead to heartburn, gastritis as well as ulcers and even bleeding.
People can take other medications, such as antacids, to neutralize or prevent the production of excess stomach acid or take drugs to help coat and protect the stomach and help restore the lost mucus. According to Spondylitis Association of America, there is a different class of NSAIDs known as COX-2 inhibitors (or COXIBs) have helped some patients reduce the risk of gastrointestinal complications associated with traditional NSAID therapy. An example of a COXIB is Celebrex (Celecoxib), which is still being used to treat spondyloarthritis.
Others, such as Vioxx, were pulled from the market because of potential cardiac side effects (SAA Medication Treatments, 2009). Although NSAIDs are commonly the first line of medications used to treat Ankylosing Spondylitis, sometimes they aren’t enough to control the symptoms. NSAIDs may only be partially effective or the side effects too severe to continue their use. In this case, a doctor may prescribe one of the following medications: Sulfasalazine Sulfasalazine is one type of medication that can be helpful to some people with this severe disease.
It is known to effectively control not only pain and joint swelling from arthritis of the small joints, but also the intestinal lesions in inflammatory bowel disease. It comes in tablet form and is taken orally. Side effects are relatively infrequent, but can include headaches, abdominal bloating, nausea and oral ulcers. Rarely, someone being prescribed this medication can develop bone marrow suppression, which is why it is important to regularly monitor blood counts. Methotrexate Originally developed to treat cancer, this chemotherapy drug is widely used and often very effective for the treatment of rheumatoid arthritis.
When prescribed for treating Ankylosing Spondylitis, it is given in much smaller doses. Methotrexate can either be taken via a self-injectable shot, or orally in tablet form. When taking methotrexate, it is also necessary to take the vitamin folic acid in order to help suppress possible side effects. Oral ulcers and nausea are the most common side effects, but can be minimized by taking folic acid. Because of other potential serious side effects, the frequent monitoring of blood counts and liver tests are required.
Methotrexate lowers the ability for patients to fight infection. Therefore, patients taking it should avoid contact with those who are ill. Corticosteroids Corticosteroids such as prednisone can be effective in relieving the inflammation of AS, but the side effects of long-term use can be very severe. Corticosteroid injections into the inflamed joints can provide temporary relief of the pain caused by arthritis or bursitis. In instances of Achilles’ tendonitis, such injections are rarely, if ever used because of the risk of rupturing the Achilles tendon.
Also, the usefulness of corticosteroid injections to relieve the symptoms of plantar fasciitis (heel pain) is not clear. Tumor Necrosis Factor alpha inhibitors AS patients produce too much of an inflammatory substance called Tumor-Necrosis-Factor alpha (TNF-a). TNF-a blockers are biologic medications that have shown great promise in treating AS by binding the excess TNF-a, thus reducing inflammation. TNF-a blockers slow the progress of AS in the majority of clinical cases, helping many patients receive a significant reduction, though not elimination, of their inflammation and pain.
They have been shown to be highly effective in treating the arthritis of the joints and the spinal arthritis associated with Ankylosing Spondylitis. Examples of TNF? [->5] blockers are: Enbrel (etanercept[->6]), Remicade (infliximab[->7]), Humira (adalimumab[->8]) and Simponi (Golimumab). Besides the often high cost of over $600 per injection, the most serious known side effect of the TNF blockers is the fact that these drugs increase the risk of infections, especially tuberculosis.
Thus, a TB test is usually required before starting any of the TNF therapies. Patients taking the TNF medications are advised to limit their exposure to others who are or may be carrying a virus (such as a cold or flu) or who may have a bacterial or fungal infection. A very rare possible complication is increased frequency of cancer, especially of the blood, such as leukemia or of the lymphatic system as in lymphoma. (SAA Medication Treatments, 2009).