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Ankylosing spondylitis (AS)

Ankylosing spondylitis (AS) is a chronic inflammatory disease that fundamentally affects the vertebrae in the spine causing it to fuse together and making the spine less flexible. More men (between the ages of 20-30) than women are affected.

Ankylosing spondylitis belongs to the family of spondyloarthropathies (SpA), a heterogeneous group of rheumatic illnesses interrelated in clinical, genetic, radiographic alterations and treatment. Although the exact cause of the disease is unknown, it is known that genetics plays a part in its development and that there is an increased risk for those persons who have a family history of the disease.

Symptoms

Ankylosing spondylitis (AS) is a chronic inflammatory disease that fundamentally affects the vertebrae in the spine causing it to fuse together and making the spine less flexible. It causes inflammation of the spinal joints (vertebrae) that can lead to severe, chronic pain and discomfort. In the most advanced cases (but not in all cases), this inflammation can lead to new bone formation on the spine, causing the spine to fuse in a fixed, immobile position. AS is a chronic rheumatic illness that produces flare-ups or severe attacks of inflammation in the vertebrae or other joints such as the shoulders, hips, knees or ankles. Generally, between severe attacks, the patient is pain-free and over time, these become less frequent and less severe. Most of the cases are isolated although in some, it can be associated with psoriasis, a skin condition, or with intestinal inflammations.

Prevention

There are no effective preventative measures for ankylosing spondylitis as its exact causes are unknown. Patients with a family history of the illness have a greater predisposition of developing AS and can benefit from early medical exams to detect the illness before the symptoms appear, and to treat any underlying complications before they worsen.

Gene or region studied

  • ERAP1
  • 2p15
  • LNPEP
  • 1p31.3
  • IL23R
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