Last Reviewed May 14, 2009
Symptoms & Characteristics
Ankylosing spondylitis is an autoimmune condition that causes chronic inflammatory arthritis primarily affecting the spine.
Early symptoms often appear in a person's late teens/early twenties, and may include low back pain and stiffness. The disorder causes inflammation of the joints between spinal vertebrae, which is called spondylitis. Inflammation can also occur in other joints as well, including the shoulders, hips, and limb joints. Eye involvement is also common with iridocyclitis causing eye pain and sensitivity to light (called photophobia). Over time, complete fusion of spinal vertebrae can occur (known as bamboo spine), which limits movement. Fixation or fusion of a joint is called ankylosis. With ankylosing spondylitis, symptoms can worsen, improve or stop altogether.
Treatment
There is currently no cure for ankylosing spondylitis. Treatment may include medications to relieve pain, swelling and other symptoms. Affected people may also benefit from exercise.
If someone notices or experiences any of the signs or symptoms common to ankylosing spondylitis, it is important to see a doctor.
How Common Is It?
About 1 in 200 people of Western European decent are believed to be affected with ankylosing spondylitis. Ankylosing spondylitis is more common and typically more severe in men.
Genetics & Inheritance
The causes of ankylosing spondylitis are largely unknown. Ankylosing spondylitis is most likely a multifactorial condition, which means that it involves a combination of genetic, lifestyle and environmental factors.
It is currently well established that ankylosing spondylitis also runs in some families. Researchers believe that there are probably a number of genes that affect the development and symptoms of ankylosing spondylitis.
- Researchers have determined that a specific variation of the HLA-B gene called HLA-B27 causes susceptibility to ankylosing spondylitis. However, it is not yet understood how this variation contributes to the disease and most people with the variation never develop the disease even when inherited from an affected parent. HLA-B is part of a family of genes called the human leukocyte antigen (HLA) complex located on chromosome 6. There are many different variations of the HLA genes and they all determine and govern how our immune systems function.
- One study also identified that an additional gene, SPDA2, located at 9q31-q34 may also cause susceptibility to ankylosing spondylitis in some families.
- Single nucleotide polymorphisms (SNPs) are small variations in a single "letter" of DNA that can be found throughout our entire genetic make-up. Some researchers have proposed that specific SNPs may influence the risk to develop ankylosing spondylitis in some people. Much of this research is considered preliminary, and it is currently often limited to specific ethnic groups. Further research is needed to replicate study findings across different ethnic groups and clearly establish associations.
- Other yet to be identified or adequately classified genes may also contribute to ankylosing spondylitis.
A genetic consultation with a trained genetic professional may be beneficial in discussing the benefits and limitations of genetic testing as well as recurrence risk.
Genetic Testing
Clinical genetic testing for susceptibility to ankylosing spondylitis (the HLA-B27 variation) is available through an in person
genetic consultation for people who are considered at risk. Use our
find a genetic professional directory to locate a trained
genetic professional in your area.
Informational genetic testing for susceptibility to ankylosing spondylitis is available online (over the internet) as part of a whole genome scan. Whole genome scanning involves analyzing thousands of SNPs at once related to a number of different health conditions.
- At this point, many genetic professionals do not consider this testing clinically useful or medically relevant, but for informational purposes only. Go to the Tests tab to link to the
best providers, compare providers and read provider reviews.
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Alternative Names
- AS
- Bechterew Disease
- Marie-Struempell Disease
- Spondylarthritis Ankylopoietica
- Spondylitis ankylopoietica
- Spondylitis, Ankylosing
- Spondyloarthritis Ankylopoietica