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Exploring the genetic code of AS: How does the HLA-B27 gene affect joints?
Ankylosing Spondylitis (AS) is a type of arthritis that belongs to the category of axial spondylarthritis. The main feature is persistent inflammation of the spinal joints, which usually occurs at the connection between the spine and the pelvis. People with this condition may also experience eye and intestinal problems, as well as back pain. Over time, joint mobility in the affected area may worsen. Research shows that the onset of ankylosing spondylitis is related to genetic and environmental factors. More than 90% of British patients have a specific human leukocyte antigen called HLA-B27. In-depth exploration of the role of this genetic marker can help reveal the pathological mechanism of AS.
Ankylosing spondylitis is thought to involve mechanisms of an autoimmune or autoinflammatory response.
Symptoms and signs
Signs and symptoms of ankylosing spondylitis usually appear gradually, usually peaking between the ages of 20 and 30. The first symptoms are often a chronic, dull pain in the lower back or buttocks, and stiffness in the lower back. Patients often experience pain and stiffness that wake them up in the morning, and as the disease progresses, the mobility of the spine and the ability of the chest to expand decrease. Over time, systemic symptoms such as weight loss, fever, or fatigue may also occur.
Pathophysiology
Ankylosing spondylitis is a systemic rheumatic disease that develops in about 1-2% of people with the HLA-B27 genotype. Tumor necrosis factor alpha (TNF-α) and interleukin 1 (IL-1) are also thought to be involved in the development of ankylosing spondylitis.
Studies have shown that the presence of HLA-B27 is related to the interaction of CD8 T cells, a process that may involve some endogenous microbial antigens.
Diagnostic methods
Diagnosing ankylosing spondylitis usually relies on symptoms and ancillary tests, including imaging studies and blood tests. Although radiologic imaging can show changes in the sacroiliac joints and spine, there are currently no direct blood or imaging tests for the early stages of nonradiation-induced spondyloarthritis.
Treatment methods
Although there is currently no cure for ankylosing spondylitis, symptoms and pain can be reduced through various treatments. Drug treatments are generally divided into two categories: "disease modifying" and "non-disease modifying". Nonsteroidal anti-inflammatory drugs (NSAIDs) are the main treatment option, and many patients find effective relief from pain and inflammation with these drugs.
Tumor necrosis factor inhibitors (TNF inhibitors) are a class of biological drugs used to treat ankylosing spondylitis. These drugs reduce inflammation by inhibiting TNF-α.
Impact and prognosis
The prognosis for ankylosing spondylitis is related to the severity of the disease, which can range from mild to progressively more severe. Some patients may experience periods of active inflammation alternating with periods of remission, resulting in varying degrees of disability. In some cases, as the disease progresses, ossification of the spine and sacrolumbar joints can lead to fusion of the spine, which will affect the patient's mobility and quality of life.
Conclusion
Overall, the HLA-B27 gene plays an important role in the pathogenesis of ankylosing spondylitis. Given the current findings, this reminds us that as we gain a deeper understanding of the mechanisms associated with HLA-B27, may we be able to find better treatments?
