Does my uncle’s ankylosing spondylitis increase family risk?

Question

Hi doctor,

My maternal uncle, who is 50, was recently diagnosed with ankylosing spondylitis. We are wondering if the condition is genetic and whether other family members, like myself, should be screened.

He has been experiencing some pain and stiffness in his lower back, but his diagnosis came after years of discomfort.

Are there any early signs to watch out for, like morning stiffness or eye inflammation?
Should I be concerned about myself and other family members?
What should we be doing to stay proactive about our health?

Please help.

Thank you.

Answer 1

Hi.

Welcome to icliniq.com.

I am deeply concerned about your worries.

Ankylosing spondylitis, also known as axial spondyloarthritis, is an inflammatory disease that, over time, can cause some of the bones in the spine, called vertebrae, to fuse. This fusing makes the spine less flexible and can result in a hunched posture. If ribs are affected, it can be difficult to breathe deeply.

Ankylosing spondylitis has no known specific cause, though genetic factors seem to be involved. In particular, people who have a gene called HLA-B27 are at a greatly increased risk of developing ankylosing spondylitis. However, only some people with the gene develop the condition.

As ankylosing spondylitis worsens, new bone forms as part of the body's attempt to heal. The new bone gradually bridges the gaps between vertebrae and eventually fuses sections of vertebrae together. Fused vertebrae can flatten the natural curves of the spine, which causes an inflexible, hunched posture.

Axial spondyloarthritis has two types.

When the condition is found on X-ray, it is called ankylosing spondylitis, also known as axial spondyloarthritis.
When the condition cannot be seen on an X-ray but is found based on symptoms, blood tests, and other imaging tests, it is called nonradiographic axial spondyloarthritis.

Symptoms typically begin in early adulthood. Inflammation also can occur in other parts of the body, most commonly the eyes.

There is no cure for ankylosing spondylitis, but treatments can lessen symptoms and possibly slow progression of the disease.

I hope this is clear, and if you have any questions, do not hesitate to ask.

Do follow up whenever needed.

Let me know if I can assist you further.

Thank you.