What is HLA-B27?
HLA-B27 is the name of an inherited marker found on white blood cells. It is found to be present with blood testing in one to ten percent of the population (higher in Scandinavians and some Native American groups). HLA is an abbreviation for Human Leukocyte Antigen. HLA-B27 is important to identify as it may be associated with medical problems such as inflammation of the eye, arthritis, psoriasis, and bowel inflammation, which may require medical treatment. There is an estimated risk of one-in-four that a person with HLA-B27 will develop eye or joint inflammation. Low vitamin D levels may play a role in causing the inflammation.
How does it affect the eye?
People who inherit HLA-B27 may develop iritis at some time during their lives. Iritis (also called anterior uveitis) means inflammation of the iris (the colored part of the eye). This inflammation is an irritation without infection. The inflammation is due to the natural immune system in the body mistakenly attacking the eye (similar to the way the immune system attacks the joints in rheumatoid arthritis). Symptoms include deep aching eye pain, redness, tearing, and light sensitivity. Other conditions of the eye may cause similar symptoms, so it is important to see an eye doctor promptly to make the correct diagnosis. Symptoms may be mild or severe. Treatment with drops (steroid and non-steroid), shots, and/or pills is important to prevent complications such as decreased vision, glaucoma, cataract, scarring, deformity, and blindness.
In 15-20% of patients with ocular inflammation associated with HLA-B27, the posterior structures of the eye may be involved. This inflammation is called intermediate uveitis. Symptoms include floaters and blurred vision. Although eye drops may be helpful, steroid injections and systemic medications may be needed. It is important to know if there is joint inflammation when deciding how to treat eye inflammation, because Humira is preferred over other medications if immunosuppressive therapy is needed. Humira (and other TNF-apha inhibitors) are effective for both eye and joint inflammation. Whereas, methotrexate and mycophenolate are good for eye inflammation, but less effective against joint inflammation associated with HLA B27.
How can it affect other parts of the body?
HLA-B27 is associated with ankylosing spondylitis, reactive arthritis, inflammatory bowel disease, and psoriasis. Ankylosing spondylitis is an arthritis that involves the spine, and it usually causes back pain and stiffness. Reactive arthritis usually involves large joints like the knees, ankles, feet, and wrists. It may follow an episode of infection of the intestines, bladder, or genitals. Inflammatory bowel disease may involve the small intestine (Crohn’s disease) or the large intestine (ulcerative colitis). Psoriasis is a skin condition causing raised red areas of the skin with scaling. Rarely, patients with HLA-B27 will suffer from scarring of the lungs (apical pulmonary fibrosis) or inflammation of the large blood vessels (aortitis).
Who should I see for evaluation of HLA-B27?
If you test positive for HLA-B27, you should inform all of your doctors so they may be alert for associated medical problems. You may be referred to an ophthalmologist if you have eye symptoms. A rheumatologist may evaluate joint symptoms with examination and X-rays. A gastroenterologist evaluates stomach problems. Recognizing symptoms and reporting to the doctor in a timely fashion may prevent severe and permanent complications.
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