National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Ankylosing spondylitis

Not a rare disease Not a rare disease
Other Names:
Ankylosing spondyloarthritis; Bechterew syndrome; Marie-Strumpell spondylitis
Categories:
Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together.[1] The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs.[2] AS is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop AS.[1] In most cases, treatment involves exercise and medications to relieve pain and inflammation.[2]
Last updated: 2/9/2015
Ankylosing spondylitis (AS) primarily affects the spine, but may affect other parts of the body too. Signs and symptoms usually begin in adolescence or early adulthood and include back pain and stiffness. Back movement gradually becomes more limited over time as the vertebrae fuse together. Many affected people have mild back pain that comes and goes; others have severe, chronic pain. In very severe cases, the rib cage may become stiffened, making it difficult to breathe deeply.[1]

In some people, the condition involves other areas of the body, such as the shoulders, hips, knees, and/or the small joints of the hands and feet.[2][3] It may affect various places where tendons and ligaments attach to the bones. Sometimes it can affect other organs including the eyes, and very rarely, the heart and lungs.[2] Episodes of eye inflammation may cause eye pain and increased sensitivity to light (photophobia).[1]

Neurological complications of AS may include an inability to control urination and bowel movements (incontinence), and the absence of normal reflexes in the ankles due to pressure on the lower portion of the spinal cord (cauda equina).[4]
Last updated: 2/9/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Anterior uveitis 0012122
Aortic regurgitation 0001659
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Back pain 0003418
Enthesitis 0100686
Hip osteoarthritis 0008843
Inflammation of the large intestine 0002037
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Multifactorial inheritance 0001426
Psoriasiform dermatitis 0003765
Sacroiliac arthritis 0012317
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Last updated: 7/1/2020
Although ankylosing spondylitis (AS) can affect more than one person in a family, it is not a purely genetic disease.[1] While genes seem to play a role, the exact cause of AS is not known. It is considered to be multifactorial, which means that multiple genetic and environmental factors likely interact to affect a person's risk to develop AS. Most of these factors have not been identified. Inheriting a genetic variation that has been associated with AS does not mean a person will develop AS.[1] Currently, it is not possible to predict the exact likelihood that the children of an affected person will develop the disease.

You can find more information about the genetics of AS from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions.
Last updated: 9/3/2015

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The main goal of treatment for people with ankylosing spondylitis (AS) is to maximize long-term quality of life. This may involve easing symptoms of pain and stiffness; retaining function; preventing complications (such as contractures); and minimizing the effects of associated conditions.[5]

Education, exercise, and medications are all very important in managing AS. An exercise program is recommended for all affected people, and some may need individual physical therapy. Affected people are encouraged to speak with their health care provider before instituting any changes to an exercise regime. Video demonstrations of exercises tailored for ankylosing spondylitis are available for viewing through the National Ankylosing Spondylitis Society in the UK.

Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs); pain relievers; sulfasalazine; and anti-tumor necrosis factor drugs. Steroid injections may be helpful for some people. Most people don't need surgery, but it may be indicated when there is severe, persistent pain or severe limitation in mobility and quality of life. Smoking creates additional problems for people with AS, so affected people who smoke should quit.[5]

More detailed information about the treatment of ankylosing spondylitis is available on Medscape's Web site. You may need to register to view the article, but registration is free.
Last updated: 9/3/2015
The long-term outlook for people with ankylosing spondylitis varies and is hard to predict.[6] In many cases, at the onset of the disease, symptoms are not constant and are limited to one side of the body. As the disease progresses, pain and stiffness generally become more severe and more regular.[7] Some people have few, if any, symptoms, while others develop chronic progressive disease and disability due to spinal inflammation leading to fusion.[7] Most people with mild disease that is restricted to a small area of involvement are able to maintain almost full functional capacity.[8] Most functional loss in affected people occurs during the first 10 years of illness.[7] Approximately 1% (1 in 100) of affected people develop a stage of "burn-out" of disease activity and enter long-term remission.[8]

A minority of people develop life-threatening complications related to other body systems.[8] Rarely, people may have problems related to an abnormal heart rhythm or the aortic heart valve; scarring or thickening of lung tissue; or inflammation in the large intestine (colitis).[6]

A number of factors that affect disease severity and prognosis have been identified. For example, there may be a more severe outcome if the hip is involved; if there is a poor response to NSAIDs; if there is a young age of onset; and/or if there is limited range of motion of the lumbar spine.[8][7] Other factors associated with a poor outcome include cigarette smoking; increasing severity seen on imaging studies; presence of other related diseases (e.g., psoriasis or inflammatory bowel disease); being male; and various findings on laboratory tests.[8]
Last updated: 1/19/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Ankylosing spondylitis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • The Autoimmune Registry supports research for Ankylosing spondylitis by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • Patient Access Network Foundation (PAN Foundation) has Assistance Programs for those with health insurance who reside in the United States. The disease fund status can change over time, so you may need to check back if funds are not currently available. 
  • The Assistance Fund provides various services, including education and financial aid, to help patients with a chronic or serious illness cover the cost of FDA-approved medications. Patients must be U.S citizens or permanent residents.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Ankylosing spondylitis. This website is maintained by the National Library of Medicine.
  • MayoClinic.com provides information about ankylosing spondylitis. Click on the link above to access this information.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ankylosing spondylitis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Ankylosing spondylitis. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/ankylosing-spondylitis.
  2. What Is Ankylosing Spondylitis?. NIAMS. November, 2014; http://www.niams.nih.gov/Health_Info/Ankylosing_Spondylitis/ankylosing_spondylitis_ff.asp.
  3. Ankylosing spondylitis. Spondylitis Association of America. 2013; http://www.spondylitis.org/about/as.aspx. Accessed 2/9/2015.
  4. Ankylosing spondylitis. NORD. July 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/143/viewAbstract. Accessed 2/9/2015.
  5. David T Yu. Assessment and treatment of ankylosing spondylitis in adults. UpToDate. Waltham, MA: UpToDate; December 18, 2014; Accessed 2/9/2015.
  6. Ankylosing spondylitis. MedlinePlus. April 20, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000420.htm.
  7. Lawrence H Brent. Ankylosing Spondylitis and Undifferentiated Spondyloarthropathy. Medscape Reference. January 20, 2016; http://emedicine.medscape.com/article/332945-overview.
  8. David T Yu. Assessment and treatment of ankylosing spondylitis in adults. UpToDate. Waltham, MA: UpToDate; August, 2015;