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Ankylosing Spondylitis

• Ankylosing spondylitis is a form of arthritis featuring chronic inflammation of the spine and the sacroiliac joints (sacroiliitis).
• Ankylosing spondylitis belongs to a group of arthritis conditions that cause chronic inflammation of the spine (spondyloarthropathies).
• Ankylosing spondylitis affects males two to three times more commonly than females.
• Ankylosing spondylitis is a cause of back pain in adolescents and young adults.
• The tendency to develop ankylosing spondylitis is genetically inherited.
• The HLA-B27 gene can be detected in the blood of most patients with ankylosing spondylitis.
• Ankylosing spondylitis can also affect the eyes, heart, lungs, and, occasionally, the kidneys.
• The optimal treatment of ankylosing spondylitis involves medications that reduce inflammation or suppress immunity, physical therapy, and exercise.

Symptoms of Ankylosing Spondylitis

Lower back pain
Common causes of lower back pain include strain injury from athletics or overuse, disc herniation, kidney infection, a pinched nerve in the spine, and pregnancy. Less common causes of back pain include infection of the spine, ankylosing spondylitis with lumbosacral and sacroiliac joint disease, compression fracture of a spinal vertebra, disc ligament tear (annular tear), and spinal tumor or cancer in the bone of the spine.
Symptoms that can be associated with low back pain include
• dull ache,
• numbness,
• tingling,
• sharp pain,
• pulsating pain,
• pain with movement of the spine,
• pins and needles sensation,
• muscle spasm,
• tenderness,
• sciatica with shooting pain down one or both lower extremities,
• rash, and
• loss of continence of bowel or bladder

Ankylosing Spondylitis

Ankylosing spondylitis is a form of chronic inflammation of the spine and the sacroiliac joints. The sacroiliac joints are located at the low back base where the sacrum (the bone directly above the tailbone) meets the iliac bones (bones on either side of the pelvis’s upper buttocks). Chronic inflammation in these areas causes pain and stiffness in and around the spine, including the neck, middle back, lower back, and buttocks. Over time, the spine (spondylitis) can lead to a complete cementing together (fusion) of the vertebrae. A process referred to as ankylosis. Ankylosis causes loss of mobility of the spine.

Ankylosing spondylitis is also a systemic disease, meaning it can affect tissues throughout the body, not just the spine. Accordingly, it can cause inflammation in and injury to other joints away from the spine manifest as arthritis and other organs, such as the eyes, heart, lungs, and kidneys. Ankylosing spondylitis shares many features with several other arthritis conditions, such as psoriatic arthritis, reactive arthritis (formerly called Reiter’s disease), and arthritis associated with Crohn’s disease ulcerative colitis. These arthritic conditions can cause infection and inflammation in the spine, other joints, eyes, skin, mouth, and various organs. Given their similarities and tendency to cause inflammation of the spine, these medical conditions are collectively referred to as “spondyloarthropathies.” Ankylosing spondylitis is considered one of the many rheumatic diseases because it can cause symptoms involving muscles and joints.

Ankylosing spondylitis is two to three times more common in men than in women. In women, joints away from the spine are more frequently affected than in men. Ankylosing spondylitis affects all age groups, including children. When it affects children, it is referred to as juvenile ankylosing spondylitis. The most common age of onset of symptoms is in the second and third decades of life. Ankylosing spondylitis is often abbreviated AS and has been referred to as Bechterew’s disease.

Causes of Ankylosing Spondylitis

The tendency to develop ankylosing spondylitis is believed to be genetically inherited. A majority (nearly 90%) of people with ankylosing spondylitis are born with a gene known as the HLA-B27 gene. Blood tests have been developed to detect the HLA-B27 gene marker. They have furthered our understanding of the relationship between HLA-B27 and ankylosing spondylitis. The HLA-B27 gene appears only to increase the tendency of developing ankylosing spondylitis, while some additional factor(s), perhaps environmental factors, are necessary for the disease to appear or become expressed. For example, while 7% of the United States population has the HLA-B27 gene, only 1% of the population has ankylosing disease spondylitis. In northern Scandinavia (Lapland), 1.8% of the population has ankylosing spondylitis, while 24% of the general population has the HLA-B27 gene. Even among individuals whose HLA-B27 blood test is positive, the risk of developing ankylosing spondylitis appears to be further related to heredity. In HLA-B27-positive individuals who have relatives with the disease, the risk of developing ankylosing spondylitis is 12% (six times greater than for those whose relatives do not have ankylosing spondylitis).

Other genes have been identified that are associated with ankylosing spondylitis, including ARTS1 and IL23R. These genes seem to play a role in influencing immune function. It is anticipated that by understanding the effects of each of these known genetic risk factors, medical researchers will make significant progress in discovering a cure for ankylosing spondylitis.

How inflammation occurs and persists in different organs and joints in ankylosing spondylitis is a subject of active health research. Each individual tends to have a unique pattern of presentation and activity of the illness. The initial inflammation may result from activation of the body’s immune system, perhaps by a primary bacterial infection or a combination of infectious microbes. Once activated, the body’s immune system becomes unable to turn itself off, even though the initial bacterial infection may have long subsided. Chronic tissue inflammation resulting from the continued activation of the body’s immune system in the absence of active infection is the hallmark of inflammatory autoimmune disease.

Symptoms and Signs of Ankylosing Spondylitis

The symptoms of ankylosing spondylitis are related to inflammation of the spine, joints, and other parts of the body. Fatigue is a common symptom associated with active inflammation. Inflammation of the spine causes pain and stiffness in the low back, upper buttock area, neck, and spine’s remainder. The onset of pain and stiffness is usually gradual. It progressively worsens with loss of range of motion noticeable over months. Occasionally, the onset is rapid and intense (flare-up). Lumbar pain (low back pain) and buttock pain are common manifestations of active inflammation in the lumbar spine and sacroiliac joints. The symptoms of pain and stiffness are often worse in the morning or after prolonged periods of inactivity. Motion, heat, and a warm shower often reduces pain and stiffness in the morning. Because ankylosing spondylitis usually affects adolescents, the onset of low back pain is sometimes incorrectly attributed to athletic injuries in younger patients.

Those who have chronic, severe inflammation of the spine can develop a complete bony fusion of the spine (ankylosis). Once fused, the spine’s pain disappears, but the affected individual has a complete loss of spine mobility. These fused spines are incredibly brittle and vulnerable to breakage (fracture) when involved in trauma, such as motor vehicle accidents. Sudden onset of pain and mobility in the spinal area of these patients can indicate bone breakage. The lower neck (cervical spine) is the most common area for such fractures.

Chronic spondylitis and ankylosis cause the upper torso (thoracic spine), limiting breathing capacity. Spondylitis can also affect the areas where ribs attach to the upper spine, further limiting lung capacity. Ankylosing spondylitis can cause inflammation and scarring of the lungs, causing coughing and shortness of breath, especially with exercise and infections. Therefore, breathing difficulty can be a severe complication of ankylosing spondylitis.

People with ankylosing spondylitis can also have arthritis in joints other than the spine. This feature occurs more commonly in women. Patients may notice pain, stiffness, heat, swelling, warmth, and or redness in joints such as the hips, knees, and ankles. Occasionally, the small joints of the toes can become inflamed or “sausage” shaped. Inflammation can occur in the cartilage around the breastbone (costochondritis) as well as in the tendons where the muscles attach to the bone (tendinitis) and in ligament attachments to bone (enthesitis). Some people with this disease develop Achilles tendinitis, causing pain and stiffness in the heel’s back, especially when pushing off with the foot while walking upstairs. Inflammation of the tissues of the bottom of the foot, plantar fasciitis, occurs more frequently in people with ankylosing spondylitis.

Other areas of the body affected by ankylosing spondylitis include the eyes, heart, and kidneys. Patients with ankylosing spondylitis can develop inflammation of the iris (iritis), the colored portion of the eye. Iritis is characterized by redness and pain in the eye, especially when looking at bright lights. Recurrent attacks of of iritis can affect either eye. In addition to the iris, the ciliary body and choroid of the eye can become inflamed; this is referred to as uveitis. Iritis and uveitis can be serious complications of ankylosing spondylitis that can damage the eye and impair vision and require an eye specialist’s (ophthalmologist) urgent care.

A rare complication of ankylosing spondylitis involves scarring of the heart’s electrical system, causing an abnormally slow heart rate (referred to as heart block). A heart pacemaker may be necessary for these patients to maintain a reasonable heart rate and output. In others, the part of the aorta closest to the heart can become inflamed, resulting in leakage of the aortic valve. In this case, patients can develop shortness of breath, dizziness, and heart failure.

Advanced spondylitis can lead to deposits of protein material called amyloid into the kidneys and result in kidney failure. Progressive kidney disease can lead to chronic fatigue and nausea. It can require removing accumulated waste products in the blood by a filtering machine (dialysis).

Treatment for Ankylosing Spondylitis

The treatment of ankylosing spondylitis typically involves using medications to reduce inflammation and or suppress immunity to stop disease progression, physical therapy, and exercise. Medications decrease inflammation in the spine and other joints and organs. Physical therapy and exercise help improve posture, spine mobility, and lung capacity.

Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly used to decrease pain and stiffness of the spine and other joints. Commonly used NSAIDs include indomethacin (Indocin), tolmetin (Tolectin), sulindac (Clinoril), naproxen (Naprosyn), and diclofenac (Voltaren). Their common side effects include stomach upset, nausea, abdominal pain, diarrhea, and even bleeding ulcers. These medicines are frequently taken with food to minimize side effects.

In some people with ankylosing spondylitis, joints’ inflammation excluding the spine (such as the hips, knees, or ankles) becomes the primary problem. Inflammation in these joints may not respond to NSAIDs alone. For these individuals, the addition of disease-modifying antirheumatic drugs (DMARDs) that suppress the body’s immune system is considered. These medications, such as sulfasalazine (Azulfidine), may bring about a long-term reduction of inflammation. An alternative to sulfasalazine that is somewhat more effective is methotrexate (Rheumatrex, Trexall), administered orally, or by injection. Frequent blood tests are performed during methotrexate treatment because of its potential for toxicity to the liver, leading to cirrhosis, and toxicity to bone marrow, which can lead to severe anemia.

Medical research has shown that for persistent ankylosing spondylitis with spinal involvement unresponsive to anti-inflammatory medications, both sulfasalazine and methotrexate are ineffective. Newer, effective medicines for spine disease attack a messenger protein of inflammation called tumor necrosis factor (TNF). These TNF-blocking medications are incredibly useful for treating ankylosing spondylitis by stopping disease activity, decreasing inflammation, and improving spinal mobility. Examples of these TNF-blockers include etanercept (Enbrel), infliximab (Remicade), adalimumab (Humira), and golimumab (Simponi). In 2016, adalimumab (Humira) was approved to treat uveitis (inflammation in the eyes).

Several significant points about the treatment of ankylosing spondylitis deserve emphasis. An early, underdiagnosed stage of spondylitis occurs before plain X-ray testing can detect classic changes. Patients who are treated earlier respond better to treatments. Current disease-modifying drugs such as methotrexate, sulfasalazine, and leflunomide (Arava), which can be useful for joint inflammation of joints away from the spine, are not helpful for spinal inflammation. If nonsteroidal anti-inflammatory drugs (NSAIDs) are not effective in a patient whose condition is dominated by spinal inflammation (and 50% do respond), then biologic medications that inhibit tumor necrosis factor (TNF inhibitors) are used. 

All TNF inhibitors, including Remicade, Enbrel, Humira, and Simponi, can effectively treat ankylosing spondylitis. The improvement that results from TNF inhibition is sustained during years of treatment. Suppose the TNF inhibitors are discontinued for whatever reason. In that case, relapse of the disease occurs in virtually all patients within a year. If the TNF inhibitor is then resumed, it is typically sufficient.

Oral or injectable corticosteroids (cortisone) are potent anti-inflammatory agents. They can effectively control spondylitis and other inflammations in the body. Unfortunately, corticosteroids can have serious side effects when used on a long-term basis. So they are typically used for short periods when possible. These side effects include cataracts, thinning of the skin and bones (osteoporosis), easy bruising, infections, diabetes, and destruction of large joints, such as the hips.

Inflammation and diseases in other organs are treated separately. For example, inflammation of the eyes (iritis or uveitis) may require cortisone eyedrops (Pred Forte) and high doses of cortisone by mouth. Additionally, atropine eyedrops are often given to relax the muscles of the iris. Sometimes injections of cortisone into the affected eye are necessary when the inflammation is severe. Heart disease in patients with ankylosing spondylitis, such as heart block, may require a pacemaker placement or medications for congestive heart failure.

Finally, orthopedic surgery may be required when there is a severe disease of the hip joints and spine.

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