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Ankylosing spondylitis pronounced ank-kih-low-sing spon-dill-eye-tissor AS, is a form of arthritis that primarily affects the spine, although other ts can become involved. It causes inflammation of the spinal ts vertebrae that can lead to severe, chronic pain and discomfort.


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Axial spondyloarthritis axSpA mostly affects the spine.

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Ankylosing spondylitis is a form of ongoing t inflammation chronic inflammatory arthritis that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood.

Overview of ankylosing spondylitis

Over time, back movement gradually becomes limited as the bones of the spine vertebrae fuse together. This progressive bony fusion is called ankylosis.

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The earliest symptoms of ankylosing spondylitis result from inflammation of the ts between the pelvic bones the ilia and the base of the spine the sacrum. These ts are called sacroiliac ts, and inflammation of these ts is known as sacroiliitis. The inflammation gradually spre to the ts between the vertebrae, causing a condition called spondylitis.

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Ankylosing spondylitis can involve other ts as well, including the shoulders, hips, and, less often, the knees. As the disease progresses, it can affect the ts between the spine and ribs, restricting movement of the chest and making it difficult to breathe deeply. People with advanced disease are also more prone to fractures of the vertebrae.

Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to episodes of eye inflammation called acute iritis.

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Acute iritis causes eye pain and increased sensitivity to light photophobia. Rarely, ankylosing spondylitis can also cause serious complications involving the heart, lungs, and nervous system.

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Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies. In the United States, spondyloarthropathies affect 3. Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified.

Ankylosing spondylitis (as)

However, researchers have found variations in several genes that influence 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. 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 proteins. Although many people with ankylosing spondylitis have the HLA-B27 variation, most people with this version of the HLA-B gene never develop the disorder.

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It is not known how HLA-B27 increases the risk of developing ankylosing spondylitis. Although these genes play critical roles in the immune system, it is unclear how variations in these genes affect a person's risk of developing ankylosing spondylitis.

What is ankylosing spondylitis

Changes in genes that have not yet been identified are also 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.

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Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease. Multiple genetic and environmental factors likely play a part in determining the risk of developing this disorder.

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As a result, inheriting a genetic variation linked with ankylosing spondylitis does not mean that a person will develop the condition, even in families in which more than one family member has the disorder. For example, about 80 percent of children who inherit HLA-B27 from a parent with ankylosing spondylitis do not develop the disorder. Genetics Home Reference has merged with MedlinePlus.

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Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Ankylosing spondylitis. From Genetics Home Reference. Description Ankylosing spondylitis is a form of ongoing t inflammation chronic inflammatory arthritis that primarily affects the spine.

Frequency Ankylosing spondylitis is part of a group of related diseases known as spondyloarthropathies.

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Causes Ankylosing spondylitis is likely caused by a combination of genetic and environmental factors, most of which have not been identified. Inheritance Although ankylosing spondylitis can occur in more than one person in a family, it is not a purely genetic disease.

Research Studies from ClinicalTrials. References Brown MA. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology Oxford. Epub Nov Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part I. Arthritis Rheum.

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HLA-B27 and its pathogenic role. J Clin Rheumatol. Polymorphism of HLA-B subtypes currently known. Curr Rheumatol Rep. Pathogenesis of ankylosing spondylitis and reactive arthritis. Curr Opin Rheumatol. Ankylosing spondylitis susceptibility loci defined by genome-search meta-analysis.

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J Hum Genet. Epub Sep A locus on chromosome 9p predisposes to a specific disease manifestation, acute anterior uveitis, in ankylosing spondylitis, a genetically complex, multisystem, inflammatory disease. The genetic basis of ankylosing spondylitis.

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Genetics of ankylosing spondylitis. Mol Immunol. Epub Jul The pathogenesis of ankylosing spondylitis.

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Neurosurg Focus. Genetic susceptibility to ankylosing spondylitis. Curr Mol Med. Genetic studies in familial ankylosing spondylitis susceptibility. Citation on PubMed.