The HLA-B27 allele is associated with seronegative spondyloarthropathies (SpA). The first HLA haplotype association with inflammatory disease was discovered in 1972, correlating HLA-B27 with ankylosing spondylitis. SpA includes ankylosing spondylitis, psoriatic arthritis, reactive arthritis, and IBD-related arthritis.
SpA typically manifest with inflammatory axial or peripheral joint pain. This pain is associated with morning stiffness, is reduced with activity, and worsens with rest.
The HLA-B27-associated diseases are:
- Acute Anterior Uveitis and Anterior scleritis
- Ankylosing Spondylitis
HLA-B27 appears in 80-90% of patients with ankylosing spondylitis
- Reactive Arthritis or Reiter syndrome
It was originally described as a triad of arthritis, nonspecific urethritis, and conjunctivitis.
- Inflammatory Bowel Disease
- IgA nephropathy
- Psoriatic Arthritis
HLA-B27 is associated with the pustular form of psoriasis
Curiously, HLA-27 has been associated with protective action in viral infections, including HIV, HCV, influenza, EBV, HSV-2.
- Zochling J, Smith EU. Seronegative spondyloarthritis. Best Pract Res Clin Rheumatol. 2010 Dec;24(6):747-56. doi: 10.1016/j.berh.2011.02.002. (link)
- Nicholas J. Sheehan; HLA-B27: what’s new?, Rheumatology, Volume 49, Issue 4, 1 April 2010, Pages 621–631, https://doi.org/10.1093/rheumatology/kep450 (link)
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