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Ankylosing Spondylitis

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Ankylosing spondylitis

What is ankylosing spondylitis?

Ankylosing spondylitis is a form of arthritis that primarily affects the spine. This chronic disorder is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. As the disorder progresses, back movement can become limited if the bones of the spine (vertebrae) fuse together. Joint stiffness or loss of mobility is called ankylosis.

The earliest symptoms of this disorder result from inflammation of the joints between the base of the spine (the sacrum) and the hipbones (the ilia). These joints are called sacroiliac joints, and inflammation in this region is known as sacroiliitis. The disorder also causes inflammation of the joints between vertebrae, which is called spondylitis. Ankylosing spondylitis can involve other joints as well, including the shoulders, hips, and, less often, joints in the limbs. Over time, this disorder can affect the joints between the spine and ribs, restricting movement of the chest and making it difficult to breathe.

Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to episodes of eye inflammation called acute iritis. Acute iritis causes eye pain and increased sensitivity to light (photophobia). Rarely, ankylosing spondylitis can also have serious complications involving the heart and lungs.

How common is ankylosing spondylitis?

Ankylosing spondylitis affects about 0.5 percent of people of Western European descent. This disorder occurs twice as often in men than in women, and symptoms tend to be more severe in men.

What genes are related to ankylosing spondylitis?

Variations of the HLA-B gene increase the risk of developing ankylosing spondylitis.

Ankylosing spondylitis is most likely caused by a combination of genetic and environmental factors, most of which have not been identified. Researchers have determined, however, that a particular version of the HLA-B gene (called HLA-B27) increases the risk of developing this disorder.

The HLA-B gene provides instructions for making a protein that plays an important role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). The HLA-B gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign invaders. Although most patients with ankylosing spondylitis have the HLA-B27 variation, many people with this particular variation never develop the disorder. It is not known how HLA-B27 increases the risk of developing ankylosing spondylitis.

Other genes are believed to affect the chances of developing ankylosing spondylitis and influence the progression of the disorder. Some of these genes likely play a role in the immune system, while others may have different functions. Researchers are working to identify these genes and clarify their role in ankylosing spondylitis.

How do people inherit ankylosing spondylitis?

Although ankylosing spondylitis is known to run in families, its pattern of inheritance is unclear. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder. Children can inherit HLA-B27 from an affected parent, but having this version of the HLA-B gene does not mean that a person will definitely develop ankylosing spondylitis. In fact, about 80 percent of children who inherit HLA-B27 from a parent with ankylosing spondylitis will never develop the disorder.

Where can I find additional information about ankylosing spondylitis?

You may find the following resources about ankylosing spondylitis helpful.

NIH Publications - National Institutes of Health

National Cancer Institute: Understanding the Immune System (http://www.cancer.gov/cancertopics/understandingcancer/immunesystem)

MedlinePlus - Health Information

Encyclopedia: Ankylosing Spondylitis (http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm)

Encyclopedia: HLA-B27 Antigen (http://www.nlm.nih.gov/medlineplus/ency/article/003551.htm)

Health Topic: Ankylosing Spondylitis (http://www.nlm.nih.gov/medlineplus/ankylosingspondylitis.html)

Educational resources - Information pages

American College of Rheumatology (http://www.rheumatology.org/public/factsheets/as.asp?aud=pat)

Children's Hospital of Wisconsin (http://www.chw.org/display/PPF/DocID/1651/router.asp)

Cleveland Clinic Health Information Center (http://www.clevelandclinic.org/health/health-info/docs/0200/0223.asp?index=4932)

Department of Orthopaedics and Sports Medicine, University of Washington (http://www.orthop.washington.edu/uw/ankylosing/tabID__3376/ItemID__14/Articles/Default.aspx)

Madisons Foundation (http://www.madisonsfoundation.org/content/3/1/display.asp?did=136)

Mayo Clinic (http://www.mayoclinic.com/invoke.cfm?id=DS00483)

Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec05/ch067/ch067e.html)

New York Online Access to Health (NOAH) (http://www.noah-health.org/en/bjm/arthritis/types/ankylosing.html)

Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=825)

Patient support - For patients and families

Ankylosing Spondylitis International Federation (http://www.asif.rheumanet.org/)

Arthritis Foundation (http://www.arthritis.org/conditions/DiseaseCenter/ankylosing_spondylitis.asp)

Arthritis Research Campaign (UK) (http://www.arc.org.uk/about_arth/booklets/6001/6001.htm)

National Organization for Rare Disorders (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ankylosing+Spondylitis)

Spondylitis Association of America (http://www.spondylitis.org/)

The Arthritis Sociey (Canada) (http://www.arthritis.ca/types%20of%20arthritis/as/default.asp?s=1)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=195122)

ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/term=ankylosing+spondylitis)

PubMed - Recent literature (http://ghr.nlm.nih.gov/condition=ankylosingspondylitis/show/PubMed)

OMIM - Genetic disorder catalog (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106300)

What other names do people use for ankylosing spondylitis?

AS - Ankylosing spondylitis

Bechterew Disease

Marie-Struempell Disease

Rheumatoid Spondylitis

Spondylarthritis Ankylopoietica

Spondylitis ankylopoietica

Spondylitis, Ankylosing

Spondyloarthritis Ankylopoietica

See "How are genetic conditions and genes named?" in the Handbook (http://ghr.nlm.nih.gov/info=mutations_and_disorders/show/naming).

What if I still have specific questions about ankylosing spondylitis?

See "How can I find a genetics professional in my area?" in the Handbook (http://ghr.nlm.nih.gov/info=consultation/show/finding_professional).

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/html/resources/info_cntr.html).

What glossary definitions help with understanding ankylosing spondylitis?

acute ; ankylosis ; antigens ; arthritis ; bacteria ; chronic ; complication ; gene ; HLA ; human leukocyte antigens ; ilium ; immune system ; inflammation ; joint ; leukocyte ; leukocyte antigens ; pattern of inheritance ; photophobia ; progression ; protein ; sacroiliac joint ; sacrum ; sensitivity ; spondylitis ; symptom ; vertebra ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/ghr/glossary/Glossary).


Emery, Alan E H; Rimoin, David L; Emery & Rimoin's principles and practice of medical genetics.; 4th ed. / edited by David L. Rimoin ... [et al.]; London ; New York : Churchill Livingstone, 2002. p2040-2045. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=nlmcatalog&dopt=Expanded&list_uids=1117555)

Khan MA, Ball EJ. Genetic aspects of ankylosing spondylitis. Best Pract Res Clin Rheumatol. 2002 Sep;16(4):675-90. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12406434)

Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p321-22. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=nlmcatalog&dopt=Expanded&list_uids=721585)

Sieper J, Braun J, Rudwaleit M, Boonen A, Zink A. Ankylosing spondylitis: an overview. Ann Rheum Dis. 2002 Dec;61 Suppl 3:iii8-18. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12381506)

Sims AM, Wordsworth BP, Brown MA. Genetic susceptibility to ankylosing spondylitis. Curr Mol Med. 2004 Feb;4(1):13-20. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15011955)

Zhang G, Luo J, Bruckel J, Weisman MA, Schumacher HR, Khan MA, Inman RD, Mahowald M, Maksymowych WP, Martin TM, Yu DT, Stone M, Rosenbaum JT, Newman P, Lee J, McClain JA, West OC, Jin L, Reveille JD. Genetic studies in familial ankylosing spondylitis susceptibility. Arthritis Rheum. 2004 Jul;50(7):2246-54. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15248224)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See "How can I find a genetics professional in my area?" in the Handbook (http://ghr.nlm.nih.gov/info=consultation/show/finding_professional).

Last Comprehensive Review: September 2005

Published: September 23, 2005

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