Ankylosing spondylitis
Ankylosing spondylitis (AS) is a chronic inflammatory condition primarily affecting the spine and hips, leading to arthritis in these areas. It can also impact other joints and cause inflammation in various organs, including the eyes and heart. Most commonly, AS occurs in individuals aged 17 to 45, with a higher prevalence in men and those with a family history of the disease. The presence of the HLA-B27 gene is a significant risk factor, although not everyone with this gene will develop AS.
Symptoms can vary widely but often include lower back pain and stiffness, particularly worse at night and in the morning, with potential radiation of pain to other areas, including the legs and rib cage. Diagnosis typically involves a physical examination, medical history, and imaging tests like X-rays or MRI to identify characteristic changes. While there is no cure for AS, treatments focus on managing symptoms through medications, physical therapy, and, in severe cases, surgery. Daily exercise and proper posture can also help improve mobility and quality of life. Understanding and managing AS can significantly contribute to maintaining daily function and overall well-being for those affected.
Ankylosing spondylitis
ALSO KNOWN AS: Marie-Strumpell disease
DEFINITION: Ankylosing spondylitis is a chronic inflammatory disease that causes arthritis of the spine and hips. It can also affect other joints, such as the knees, and can cause inflammation of the eyes, lungs, or heart valves.
Risk Factors
Individuals between the ages of seventeen and forty-five are most at risk for ankylosing spondylitis, as are individuals whose family members have the disease. Men are more likely to develop the disease than women. Other risk factors include having the HLA-B27 gene and having inflammatory bowel disease, ulcerative colitis, or Crohn's disease.
Etiology and Genetics
The causes of ankylosing spondylitis are not well understood, but it seems clear that both genetic and environmental factors play contributing roles. According to the Spondylitis Association of America, approximately 95 percent of affected Caucasians and 50 percent of affected African Americans carry the gene most related to ankylosing spondylitis, the HLA-B27 gene, but not all individuals who express this gene will develop the disease. For example, while 50 percent of the children of an affected parent will inherit the HLA-B27 gene, only about 5 to 20 percent of them will develop spondyloarthritis.
The HLA-B27 gene is one of a family of genes located at the major histocompatability locus on the short arm of chromosome 6 at position 6p21.3. It encodes a protein that is present on the surface of almost all cells and functions to display protein fragments (peptides) that have been exported from the cell to components of the immune system. If the antigens are recognized as foreign, an inflammatory response is triggered. The conditions under which the HLA-B27 protein initiates an inflammatory response resulting in disease are not clear, and theories range from the improper presentation of peptides to the misfolding of the protein itself. According to the National Library of Health in 2022, both IL23R, ERAP1, and IL1A have also been associated with the disease.
Symptoms
The severity of an individual’s symptoms can vary from mild to very severe. Common symptoms may include stiffening and pain (arthritis) of the lower back and the sacroiliac, the joint where the back and hip meet, possibly radiating down the legs. The pain is often worse at night; stiffness is worse in the morning. Symptoms may improve with exercise or activity.
Individuals may occasionally experience pain and stiffness in other joints, including the knees, upper back, rib cage, neck, shoulders, and feet. Another symptom is chest pain, which may suggest heart, heart valve (aortic insufficiency), or lung involvement; eye pain, visual changes, and increased tearing may suggest eye involvement (uveitis). Less common symptoms may include fatigue, loss of appetite or weight loss, fever, and numbness (if arthritic spurs compress the spinal nerves).
Screening and Diagnosis
The doctor will ask about a patient’s symptoms and medical history and will perform a physical exam. Diagnosis is based on common symptoms of ankylosing spondylitis, such as dramatic loss of flexibility of the lower back and spine (limitation of motion of the low back), pain in the lower back, and limited chest expansion when taking deep breaths.
Diagnostic tests may include x-rays of the lower back and hips to check for characteristic changes and occasionally a magnetic resonance imaging (MRI) scan or a computed tomography (CT) scan of the joints involved. Blood tests can check for the HLA-B27 gene marker, anemia, an elevated sedimentation rate, and the presence of other autoimmune markers.
Treatment and Therapy
There is no cure for ankylosing spondylitis. Treatment is aimed at providing education and relieving the symptoms and may include medication, such as nonsteroidal anti-inflammatory drugs (NSAIDs), to control pain and inflammation. Disease-modifying anti-rheumatic drugs (DMARDs) or tumor necrosis factor (TNF) alpha blockers may be used if NSAIDs are insufficient. IL-17 inhibitors, drugs that aid the body in fighting inflammation, can also be taken alongside NSAIDs. The application of heat and cold can also reduce pain and control swelling. Secukinumab, a monoclonal antibody manufactured for the treatment of psoriasis, has also been shown in studies to reduce symptoms of ankylosing spondylitis and was approved by the Food and Drug Administration in 2016 for that purpose. In cases involving heavy joint damage, hip problems, or severe pain, surgical intervention may be required.
Physical therapy techniques can prevent progression and worsening of symptoms and may include learning proper posture and the best positions for sleeping. Daily exercise is another treatment and can include abdominal and back exercises (to decrease back stiffness and maintain good posture), stretching exercises, swimming exercises, and breathing exercises (in cases where the rib cage is affected). In severe cases, hip or joint replacement surgery may be needed to relieve pain and restore mobility. In some instances, spinal surgery is needed to allow the person to maintain an upright posture.
Prevention and Outcomes
There are no guidelines for preventing ankylosing spondylitis because the cause is unknown.
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