What Is Ankylosing Spondylitis? Factors, Complaints, Medical Diagnosis, and Rehab.

What Is Ankylosing Spondylitis?

Ankylosing spondylitis (AS) is a type of chronic inflammatory arthritis that primarily affects the spine, though it can also impact other joints and areas of the body. The condition leads to inflammation in the joints between the vertebrae (spinal bones), and over time, this inflammation can cause the affected vertebrae to fuse, resulting in reduced flexibility and a hunched posture. In severe cases, ankylosing spondylitis can lead to a completely immobile spine. AS is a lifelong disease, and while there is no cure, treatments can manage symptoms and slow the progression of spinal fusion.

Factors Contributing to Ankylosing Spondylitis

The exact cause of ankylosing spondylitis is not well understood, but a combination of genetic, environmental, and immunological factors contribute to its development.

1. Genetic Factors:
   • HLA-B27 Gene: The strongest known risk factor for AS is the presence of the HLA-B27 gene, which is found in most people with the disease. Not everyone with this gene develops AS, but it significantly increases the likelihood. It’s believed that the gene plays a role in how the immune system functions, particularly in recognizing certain proteins that may lead to inflammation in the spine and joints. However, having the gene alone is not sufficient to cause the disease.
   • Family History: If a family member, particularly a close relative, has AS or another autoimmune condition, the risk of developing the disease increases. Genetic predisposition plays a significant role in AS development, although environmental triggers are also important.
2. Immune System Dysfunction: AS is an autoimmune disease, meaning the body’s immune system mistakenly attacks its own tissues, leading to inflammation. In the case of ankylosing spondylitis, this immune response targets the spine and other joints, causing pain, stiffness, and eventual fusion of the bones.
3. Environmental Factors: While the exact environmental triggers are unclear, infections and other environmental factors are thought to contribute to the onset of AS in people who are genetically predisposed. It’s believed that certain bacterial infections might stimulate an abnormal immune response, leading to inflammation in the joints.
4. Gender and Age: AS is more common in men than women and typically begins in late adolescence or early adulthood, with most people being diagnosed before the age of 40. It is rare for the disease to appear after age 45. Though men are more often diagnosed, women with AS may have different patterns of symptoms and disease progression.

Common Complaints and Symptoms

Ankylosing spondylitis is a progressive condition that can vary significantly from person to person. The most common symptoms tend to develop gradually, starting in the lower back and moving upward toward the neck. Over time, other joints and organs may be affected.

1. Chronic Back Pain and Stiffness:
   • The hallmark symptom of AS is chronic pain and stiffness in the lower back and hips, particularly after periods of rest or inactivity. The pain is usually worse in the morning or after sitting for long periods. Physical activity and exercise often provide some relief.
   • As the disease progresses, the pain may spread upward through the spine to the neck, shoulders, and ribs. This can make it difficult to breathe deeply if the rib joints are affected.
2. Reduced Flexibility and Mobility:
   • As inflammation leads to joint fusion (ankylosis), flexibility in the spine decreases. Over time, people with AS may find it increasingly difficult to bend or twist their back. In severe cases, the spine may fuse into a forward-curved position, causing a hunched posture (kyphosis).
   • Mobility in other joints, such as the shoulders, hips, knees, and ankles, can also be affected. The hips are commonly involved, leading to difficulties with walking or standing.
3. Fatigue:
   • Chronic inflammation associated with AS can cause systemic fatigue. This fatigue can be debilitating and often doesn’t improve with rest. It is thought to be caused by the body’s continuous immune response and inflammation.
4. Pain in Other Joints:
   • While AS predominantly affects the spine, it can also cause pain and swelling in peripheral joints, such as the knees, ankles, and hips. This can lead to additional discomfort and reduced mobility.
5. Enthesitis:
   • Enthesitis, or inflammation where tendons and ligaments attach to bone, is a common feature of AS. This can cause pain in areas such as the Achilles tendon (heel), the bottom of the foot (plantar fasciitis), or the chest wall (costochondritis).
6. Eye Inflammation (Uveitis):
   • About 40% of people with AS experience episodes of uveitis, an inflammation of the uvea (the middle layer of the eye). Symptoms of uveitis include eye pain, redness, light sensitivity, and blurred vision. Uveitis can be a serious complication if not treated promptly.
7. Respiratory Issues:
   • As the rib joints become inflamed and stiffen, it can become difficult to fully expand the chest, leading to breathing difficulties. This can be particularly problematic during physical exertion.
8. Bowel and Heart Involvement:
   • Some individuals with AS may experience inflammation in the digestive tract (inflammatory bowel disease) or cardiovascular issues such as an increased risk of aortic inflammation (aortitis), which can lead to heart complications.

Medical Diagnosis of Ankylosing Spondylitis

Diagnosing AS can be challenging, particularly in the early stages when symptoms are mild and nonspecific. A comprehensive diagnostic process typically includes:

1. Medical History and Physical Examination:
   • A healthcare provider will ask about symptoms, their duration, and any family history of AS or autoimmune diseases. They may conduct a physical exam to assess spinal flexibility, pain levels, and posture. Key signs include limited movement of the lower back and tenderness over the sacroiliac joints.
2. Imaging Tests:
   • X-rays: X-rays of the spine and pelvis are often used to look for changes in the sacroiliac joints or signs of vertebrae fusion. However, changes may not be visible in the early stages of the disease.
   • MRI: Magnetic resonance imaging (MRI) is more sensitive than X-rays and can detect early signs of inflammation in the spine and sacroiliac joints before visible damage occurs.
3. Blood Tests:
   • Blood tests can help detect inflammation markers, such as elevated C-reactive protein (CRP) or erythrocyte sedimentation rate (ESR), which are often elevated in people with AS. However, not all patients with AS have these elevated markers.
   • Testing for the HLA-B27 gene can provide additional diagnostic clues, but it is not definitive since not everyone with the gene develops AS.
4. Assessment of Symptoms:
   • Because AS can present with a variety of symptoms, healthcare providers will consider a combination of spinal pain, stiffness, and other systemic symptoms to form a diagnosis. The presence of uveitis or inflammatory bowel disease can also be indicative of AS.

Medical Treatment and Rehabilitation

Although there is no cure for ankylosing spondylitis, medical treatment and rehabilitation can help manage symptoms, improve quality of life, and prevent complications.

1. Medications:
   • Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): These are the first-line treatment for reducing pain and inflammation. Common NSAIDs include ibuprofen and naproxen, which can relieve stiffness and discomfort.
   • Tumor Necrosis Factor (TNF) Inhibitors: TNF inhibitors, such as etanercept and infliximab, are biologic medications that reduce inflammation by targeting specific molecules in the immune system. These medications are often used when NSAIDs are not effective.
   • Interleukin-17 (IL-17) Inhibitors: IL-17 inhibitors, such as secukinumab, are another class of biologics used to treat AS by blocking inflammatory pathways.
   • Corticosteroids: Corticosteroids may be used to control severe inflammation in short-term flare-ups but are not a long-term solution due to their side effects.
2. Physical Therapy:
   • Physical therapy is a key component of managing AS. Regular exercises that promote spinal flexibility, improve posture, and strengthen muscles can help prevent joint stiffness and maintain mobility.
   • Stretching and exercises that focus on breathing can also help relieve chest tightness and improve lung function.
3. Lifestyle Changes:
   • Maintaining an active lifestyle is essential for managing AS. Regular low-impact exercises, such as swimming, yoga, and walking, can help reduce stiffness and improve overall joint function.
   • Good posture practices are important to prevent or reduce spinal deformities.
4. Surgery:
   • In severe cases where joint damage is extensive, surgical options such as hip replacement or spinal surgery may be necessary to restore mobility and reduce pain.
5. Pain Management:
   • For individuals with significant pain, a multidisciplinary approach to pain management, including medications, physical therapy, and alternative treatments like acupuncture, may be helpful.
6. Support Groups and Mental Health Care:
   • Living with a chronic disease can be mentally and emotionally challenging. Support groups, counseling, and mental health resources can help patients cope with the stress, anxiety, or depression that may accompany AS.