What is ankylosing spondylitis?

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Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the spine and the sacroiliac joints (where the spine meets the pelvis), but it can also affect other joints and tissues. AS is part of a group of diseases known as spondyloarthropathies, which share similar characteristics, including inflammatory arthritis and an association with the HLA-B27 gene.

Key Features of Ankylosing Spondylitis:

Spinal Involvement:
- The hallmark of AS is inflammation of the sacroiliac joints and the spine (vertebrae), which can lead to pain and stiffness, particularly in the lower back and hips.
- Over time, the inflammation can cause the affected vertebrae to fuse together, leading to reduced spinal mobility and a characteristic stooped posture or kyphosis (forward curvature of the spine).
- The inflammation typically begins in the sacroiliac joints and progresses up the spine. This can lead to the fusion of vertebrae, a process known as ankylosis, hence the name “ankylosing spondylitis.”
Symptoms:
- Chronic Back Pain and Stiffness: AS often causes pain and stiffness in the lower back, especially in the morning or after periods of inactivity. The pain is usually relieved by movement and worsens with rest.
- Reduced Flexibility: As the disease progresses, spinal flexibility decreases, making it difficult to bend, twist, or turn the body.
- Fatigue: Many people with AS experience chronic fatigue, which can be related to inflammation or the body’s response to the disease.
- Peripheral Joint Involvement: While AS mainly affects the spine, it can also involve the hips, shoulders, knees, and ankles. This can cause joint pain and swelling.
- Enthesitis: Inflammation of the entheses (the areas where tendons and ligaments attach to bones) is common in AS, particularly in the heels and hips.
- Chest Pain and Difficulty Breathing: In some cases, inflammation can affect the ribs and the areas where they attach to the spine, causing chest pain and reduced chest expansion, which may impact breathing.
Cause and Risk Factors:
- Genetics: AS is strongly linked to the HLA-B27 gene, although not everyone with this gene will develop the condition. However, individuals with the HLA-B27 gene have a much higher risk of developing AS.
- Family History: AS tends to run in families, so having a first-degree relative (such as a parent or sibling) with the condition increases the likelihood of developing it.
- Age of Onset: AS typically begins in late adolescence or early adulthood, with most cases diagnosed between the ages of 17 and 35. It is more common in men than women.
- Environmental Triggers: Infections, particularly gastrointestinal or genitourinary infections, have been suggested as potential triggers for AS in genetically susceptible individuals, though the exact triggers are still not fully understood.
Complications:
- Spinal Fusion: One of the most significant long-term complications of AS is the progressive fusion of the spine, which can lead to significant loss of mobility and a rigid, forward-stooped posture.
- Osteoporosis: People with AS are at higher risk for osteoporosis (weakened bones), especially in the spine, due to chronic inflammation and the use of certain medications, such as corticosteroids.
- Eye Inflammation (Uveitis): AS is associated with an increased risk of iritis or uveitis, which is inflammation of the eye. This can cause eye pain, redness, and sensitivity to light.
- Heart and Lung Involvement: In severe cases, inflammation in the spine and ribs can lead to problems with the heart (such as aortic valve disease) and lungs (such as restricted lung function).
Diagnosis:
- Clinical Evaluation: Diagnosis typically involves a combination of medical history, physical examination, and imaging studies.
- Imaging: X-rays or MRI scans of the spine and sacroiliac joints can show signs of inflammation and, in advanced stages, the fusion of vertebrae.
- Blood Tests: While there is no single blood test to diagnose AS, elevated inflammatory markers such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) are commonly seen. Testing for the HLA-B27 gene can also support the diagnosis, although its presence alone is not enough for a diagnosis.
Treatment:
- Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): NSAIDs are commonly used to relieve pain and reduce inflammation. They are often the first line of treatment for managing AS symptoms.
- Disease-Modifying Antirheumatic Drugs (DMARDs): Methotrexate and other DMARDs may be used to manage peripheral joint involvement, though they are not as effective for treating spinal involvement.
- Biologic Agents: TNF inhibitors (e.g., etanercept, adalimumab) and IL-17 inhibitors (e.g., secukinumab, ixekizumab) are biologic therapies that target specific immune system pathways involved in AS. These have been shown to significantly reduce inflammation and slow disease progression.
- Physical Therapy: Regular exercise and physical therapy are important in maintaining spinal flexibility, improving posture, and reducing pain. A physical therapist can guide specific exercises to maintain mobility and reduce stiffness.
- Surgery: In severe cases, surgery such as joint replacement or spinal surgery may be required to correct deformities or replace damaged joints.
Prognosis:
- The course of AS can vary significantly from person to person. While some individuals experience mild symptoms with minimal progression, others may experience more severe spinal fusion and functional impairment.
- Early diagnosis and effective treatment are crucial to managing symptoms, slowing disease progression, and maintaining a good quality of life.

Conclusion:

Ankylosing spondylitis is a chronic, inflammatory condition that primarily affects the spine and sacroiliac joints, but can also involve other joints and tissues. It is genetically linked, especially with the HLA-B27 gene, and tends to develop in young adulthood, affecting more men than women. Treatment focuses on managing inflammation, improving mobility, and preventing spinal fusion through a combination of medications, physical therapy, and, in some cases, biologic therapies.

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