Which of the following information is the primary gene associated with an increased risk for Ankylosing Spondylitis?
Ankylosing Spondylitis is best known as an arthritis of the joints of the spine, but it frequently affects other joints (e.g, shoulders, hips) and occasionally affects other organs such as the eyes, skin, and intestines (ie, uveitis, psoriasis, and inflammatory bowel disease, respectively).
The etiology of Ankylosing Spondylitis is unknown; however, environmental and genetic factors may play a role in its occurrence.
1. Human leukocyte antigen-B27 (HLA-B27) is the primary gene associated with an increased risk for Ankylosing Spondylitis;
2. The presence of interleukin 23R (IL23R) and endoplasmic reticulum aminopeptidase 1 (ERAP1) may also increase risk.
Symptom onset commonly occurs in late adolescence or early adulthood (17-45 years of age) with unilateral or alternating low back and buttock pain or stiffness that improves with activity and worsens with rest.
The pain is usually dull and diffuses and progresses gradually over weeks to months. Up to 35% of patients have hip arthritis.
The pain eventually becomes chronic and bilateral in nature and advances to neck pain and stiffness months to years after initial presentation.
Of note, symptoms of Ankylosing Spondylitis may initially manifest in a peripheral joint in a minority of patients, more commonly in children, which may lead to the potential for an incorrect diagnosis.
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