“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.
00:00.600 --> 00:02.999
00:03.000 --> 00:05.566
Ankylosing spondylitis happens in about 1 percent
00:05.567 --> 00:06.999
of the general population.
00:07.000 --> 00:11.432
It's more common in people of northern European descent.
00:11.433 --> 00:14.999
00:15.000 --> 00:17.666
There aren't any controllable risk factors that we know of.
00:17.667 --> 00:20.732
In ankylosing spondylitis, there's a very, very strong
00:20.733 --> 00:22.266
00:22.267 --> 00:24.866
Many people with ankylosing spondylitis either have
00:24.867 --> 00:26.399
another family member with it,
00:26.400 --> 00:28.132
or they have another family member that has some
00:28.133 --> 00:31.132
kind of rheumatologic or autoimmune condition.
00:31.133 --> 00:33.632
There's a gene called HLA-B27
00:33.633 --> 00:36.766
and it's the one associated with ankylosing spondylitis.
00:36.767 --> 00:39.166
Not everyone with that gene gets the disease,
00:39.167 --> 00:41.566
so there are some environmental factors.
00:41.567 --> 00:44.999
We just don't know enough about them yet to know.
00:45.000 --> 00:47.199
Ankylosing spondylitis is more common in men.
00:47.200 --> 00:49.932
Some studies even show that it's two times as common.
00:49.933 --> 00:52.632
And it has an earlier onset, so most patients,
00:52.633 --> 00:55.166
the median age of diagnosis is in their mid-20s,
00:55.167 --> 00:57.932
but it can be diagnosed up to age around 40.
00:57.933 --> 01:00.666
Ankylosing spondylitis pain is worse with inactivity,
01:00.667 --> 01:03.532
so the person feels more stiffness and pain in the morning,
01:03.533 --> 01:05.999
and then as they move around, then they start to feel better.
01:06.000 --> 01:08.066
There aren't necessarily screenings;
01:08.067 --> 01:11.499
however, if the patient knows that they have a family history of it,
01:11.500 --> 01:14.732
and they do feel symptoms such as low back pain
01:14.733 --> 01:18.099
and buttock pain, and it's gradual and they have stiffness,
01:18.100 --> 01:20.999
they should definitely be checked out by their physician.
01:21.000 --> 01:23.766
The diagnosis of ankylosing spondylitis is what we call
01:23.767 --> 01:26.332
clinical diagnosis based on symptoms.
01:26.333 --> 01:29.132
There is a blood test that can be done if the patient
01:29.133 --> 01:31.366
already has some of the symptoms,
01:31.367 --> 01:34.332
and then another very important component of the diagnosis
01:34.333 --> 01:39.366
is radiographic signs, so on X-rays the patient may have
01:39.367 --> 01:41.566
some signs of inflammation in the pelvic joint,
01:41.567 --> 01:43.499
called the sacroiliac joint.
01:43.500 --> 01:46.166
So definitely in patients that have a family history
01:46.167 --> 01:48.866
of ankylosing spondylitis or any rheumatologic condition,
01:48.867 --> 01:50.466
if they're having back or buttock pain,
01:50.467 --> 01:53.566
they should be checked out by a physician.
01:53.567 --> 01:57.800
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.)