Ankylosing Spondylitis

What is ankylosing spondylitis?

From: MedlinePlus, National Library of Medicine

Ankylosing spondylitis (AS) is a type of arthritis of the spine. It causes inflammation (swelling) between your vertebrae (the bones that make up your spine) and the joints between your spine and pelvis. AS inflammation can cause stiffness and make it difficult to move and bend.

Symptoms of AS can range from mild to severe back pain. Over time, AS can fuse (grow together) your vertebrae, limiting movement and causing a hunched posture. In some people, AS can affect other joints or body parts.

There is no cure for AS, but early treatment can help manage symptoms, slow down the disease, and help you lead a more productive life.

Who is more likely to get ankylosing spondylitis?

From: MedlinePlus, National Library of Medicine

Ankylosing spondylitis usually starts before age 45. Early symptoms may begin between the ages of 15 and 30. Your chance of developing AS can also increase if:

• You're a man. AS is more common and severe in men.
• You have a family history. If a member of your family has AS, you're more likely to get the disease.
• You have other medical conditions that may increase your risk of getting AS. These include Crohn's disease, ulcerative colitis, or psoriasis.

What causes ankylosing spondylitis?

From: MedlinePlus, National Library of Medicine

No one knows what causes ankylosing spondylitis, but the environment and genes likely play a role. Your genes are parts of DNA in your cells that are passed down from your parents. Certain genes may increase your risk of getting the disease, but not everyone with these genes gets AS.

What are the symptoms of ankylosing spondylitis?

From: MedlinePlus, National Library of Medicine

AS affects people differently. The most common symptom is pain and stiffness in the lower back and/or hips. The pain is usually worse during the night or after sitting for a long time.

Over time, AS may progress to other areas of your spine or body. Symptoms may depend on which areas of your body the disease affects. Some people have symptoms that come and go. Others may have severe, ongoing pain.

Other symptoms of ankylosing spondylitis may include:

• Pain, stiffness, and inflammation of the joints.
• Difficulty taking a deep breath. This could occur if the joints connecting the ribs are affected.
• Changes in vision.
• Fatigue.
• Loss of appetite.
• Weight loss.
• Skin rashes, such as psoriasis.
• Abdominal (belly) pain and loose stools (poop).

How is ankylosing spondylitis diagnosed?

From: MedlinePlus, National Library of Medicine

There is no single test for ankylosing spondylitis. To find out if you have AS your health care provider may:

• Ask about your medical history, including your symptoms.
• Ask about your family health history, including relatives who have had AS.
• Do a physical exam.
• Order blood tests or imaging studies.

What are the treatments for ankylosing spondylitis?

From: MedlinePlus, National Library of Medicine

AS has no cure, but treatment may help relieve symptoms, maintain posture, and slow down the disease. Since other parts of your body can be affected by AS, you will likely work with a team of health care professionals for tests, diagnosis, and care.

Treatment usually includes medicine to help relieve symptoms and keep the disease from getting worse, as well as physical therapy to improve mobility. If AS is severe, surgery may be needed.

You can help manage your AS symptoms if you:

• Exercise
• Monitor your symptoms
• Manage your stress
• Use assistive devices as needed
• Follow a healthy diet
• Stop smoking, or don't start

Genetic causes described in the linked summary

From: MedlinePlus Genetics

Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. However, researchers have found variations in several genes that influence the risk of developing this disorder.

The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. The HLA-B gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. A normal variant of the HLA-B gene called HLA-B27 significantly increases the risk of developing ankylosing spondylitis. Although some people with ankylosing spondylitis have the HLA-B27 variant, most people with this version of the HLA-B gene never develop the disorder. (Conversely, this condition can occur in people without the HLA-B27 gene variant.) It is not fully known how HLA-B27 increases the risk of developing ankylosing spondylitis.

Variations in several additional genes, including ERAP1, IL1A, and IL23R, have also been associated with ankylosing spondylitis. Although many of these genes play critical roles in the immune system, it is not fully known how variations in these genes affect a person's risk of developing ankylosing spondylitis. Changes in genes that have not yet been identified also likely affect the chances of developing ankylosing spondylitis and influence the progression of the disorder. Researchers are working to identify these genes and clarify their role in ankylosing spondylitis.

Inheritance described in the linked summary

From: MedlinePlus Genetics

Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. As a result, inheriting a genetic variation linked with ankylosing spondylitis does not mean that a person will develop the condition, even in families in which more than one family member has the disorder. For example, studies show that about 75 percent of children who inherit HLA-B27 from a parent with ankylosing spondylitis do not develop the disorder.

Which doctor should you see?

The suggested department for discussing Ankylosing Spondylitis is Rheumatology, with a rheumatologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Are the findings inflammatory, structural or due to another mechanism?
• Is there evidence that other organs need assessment?
• How will function and any treatment-related risks be monitored?

Treatment discussions and follow-up

Where the source describes treatments, these are an overview of possible care, not a prescription for an individual. Ask which option applies to the confirmed diagnosis, what benefit is expected, what adverse effects to watch for and how progress will be assessed. Availability, approvals and local practice can differ from the country described in the source.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.