“There’s a very, very strong genetic component.”
When someone gets diagnosed with a chronic health condition, such as ankylosing spondylitis (AS), one of their first questions might be, why did I get this? Did I do something wrong?
“There aren't any controllable risk factors that we know of,” says Eliana Cardozo, DO, assistant professor of rehabilitation medicine at Icahn School of Medicine at Mount Sinai. “Many people with ankylosing spondylitis either have another family member with it, or they have another family member that has some kind of rheumatologic or autoimmune condition.”
In other words, there’s a strong genetic component for AS, which is an inflammatory type of arthritis that causes increasing pain and stiffness in the lower back. This can be illustrated in the numbers: While it affects one percent of the general population, it’s slightly more common in those of northern European descent.
“There's a gene called HLA-B27 and it's the one associated with ankylosing spondylitis, [but] not everyone with that gene gets the disease,” says Dr. Cardozo. In fact, fewer than one out of 20 people with the gene actually develop AS, according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases.
The fact that some—but not all—people with the HLA-B27 gene get AS is a sign that there are some environmental factors involved in the development of AS—but researchers don’t know what they are yet.
Additionally, AS is more likely, and also tends to be more severe, among men. “Some studies even show that it's two times as common,” says Dr. Cardozo.
If you know you have a family member with AS or another type of rheumatologic condition, and you notice you are starting to have symptoms of AS, such as pain in the low back that’s worse in the morning, you should see a physician for a physical examination. The earlier you begin treatment, the more likely you’ll see positive results from your treatments.
“The diagnosis of ankylosing spondylitis is what we call clinical diagnosis based on symptoms,” says Dr. Cardozo. If the patient has symptoms, the physician may also choose to do a blood test or imaging tests, which looks for signs of inflammation.
Treatment for ankylosing spondylitis won’t just help you feel better in the short-term: It can also help reduce your risk of complications of AS, so if you suspect AS but haven’t yet seen your doctor, it’s worth the time to make the visit.
Dr. Cardozo is an assistant professor of Rehabilitation Medicine at Icahn School of Medicine at Mount Sinai.
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Ankylosing spondylitis happens in about 1 percent
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of the general population.
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It's more common in people of northern European descent.
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There aren't any controllable risk factors that we know of.
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In ankylosing spondylitis, there's a very, very strong
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Many people with ankylosing spondylitis either have
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another family member with it,
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or they have another family member that has some
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kind of rheumatologic or autoimmune condition.
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There's a gene called HLA-B27
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and it's the one associated with ankylosing spondylitis.
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Not everyone with that gene gets the disease,
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so there are some environmental factors.
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We just don't know enough about them yet to know.
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Ankylosing spondylitis is more common in men.
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Some studies even show that it's two times as common.
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And it has an earlier onset, so most patients,
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the median age of diagnosis is in their mid-20s,
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but it can be diagnosed up to age around 40.
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Ankylosing spondylitis pain is worse with inactivity,
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so the person feels more stiffness and pain in the morning,
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and then as they move around, then they start to feel better.
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There aren't necessarily screenings;
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however, if the patient knows that they have a family history of it,
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and they do feel symptoms such as low back pain
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and buttock pain, and it's gradual and they have stiffness,
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they should definitely be checked out by their physician.
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The diagnosis of ankylosing spondylitis is what we call
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clinical diagnosis based on symptoms.
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There is a blood test that can be done if the patient
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already has some of the symptoms,
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and then another very important component of the diagnosis
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is radiographic signs, so on X-rays the patient may have
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some signs of inflammation in the pelvic joint,
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called the sacroiliac joint.
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So definitely in patients that have a family history
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of ankylosing spondylitis or any rheumatologic condition,
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if they're having back or buttock pain,
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they should be checked out by a physician.
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Ankylosing spondylitis. Bethesda, MD: National Institute of Arthritis and Musculoskeletal and Skin Diseases. (Accessed on April 7, 2020 at https://www.niams.nih.gov/health-topics/ankylosing-spondylitis.)
Clinical manifestations of axial spondyloarthritis (ankylosing spondylitis and nonradiographic spondyloarthritis) in adults. Waltham, MA: UpToDate, 2020. (Accessed on April 7, 2020 at https://www.uptodate.com/contents/clinical-manifestations-of-axial-spondyloarthritis-ankylosing-spondylitis-and-nonradiographic-axial-spondyloarthritis-in-adults.)
Treatment of axial spondyloarthritis (ankylosing spondylitis and nonradiographic axial spondyloarthritis) in adults. Waltham, MA: UpToDate, 2020. (Accessed on April 7, 2020 at https://www.uptodate.com/contents/treatment-of-axial-spondyloarthritis-ankylosing-spondylitis-and-nonradiographic-axial-spondyloarthritis-in-adults.)