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What is the meaning of HLA-B27 positive?

Published in Autoimmune Disease Marker 4 mins read

Being HLA-B27 positive means that a specific protein, known as the HLA-B27 antigen, has been detected on the surface of your white blood cells. These proteins are involved in your immune system's ability to recognize and fight off infections. While the presence of HLA-B27 does not automatically mean you have a disease, it indicates a genetic predisposition to developing certain autoimmune diseases, conditions where your immune system mistakenly attacks your own body's healthy cells.

Understanding HLA-B27

Human Leukocyte Antigen B27 (HLA-B27) is a specific type of protein found on the surface of white blood cells. These proteins, also called antigens, play a crucial role in the immune system's function, helping it to distinguish between the body's own cells and foreign invaders like bacteria and viruses.

When a test for HLA-B27 comes back "positive," it signifies that this particular genetic marker is present in your blood. This marker is found in a significant portion of the general population, but it is much more prevalent in individuals with certain chronic inflammatory conditions.

Implications of an HLA-B27 Positive Result

A positive HLA-B27 test result is not a diagnosis of an autoimmune disease itself, but rather a strong indicator of an increased genetic risk. Many people with HLA-B27 will never develop any related conditions. However, its presence significantly increases the likelihood of developing specific types of autoimmune inflammatory disorders, particularly those affecting the joints and spine.

Associated Autoimmune Conditions

The HLA-B27 antigen is strongly associated with a group of autoimmune diseases known as spondyloarthropathies. These conditions primarily cause inflammation in the spine and other joints, as well as in other areas of the body.

Here are some of the key conditions linked to HLA-B27:

  • Ankylosing Spondylitis (AS): This is the most common and strongest association. AS is a chronic inflammatory disease primarily affecting the spine, leading to severe stiffness and pain, and potentially fusion of the vertebrae over time. Learn more about Ankylosing Spondylitis.
  • Reactive Arthritis (formerly Reiter's Syndrome): This condition often develops after an infection (e.g., gastrointestinal or genitourinary) and can cause inflammation in joints, eyes (conjunctivitis), and the urethra. More information on Reactive Arthritis.
  • Psoriatic Arthritis (PsA): While typically associated with psoriasis (a skin condition), a subset of individuals with PsA, especially those with spinal involvement, may also be HLA-B27 positive. Discover more about Psoriatic Arthritis.
  • Acute Anterior Uveitis (AAU): This is an inflammatory condition affecting the front part of the eye, causing pain, redness, and light sensitivity. It can occur as a standalone condition or in conjunction with the other spondyloarthropathies. See details on Uveitis.
  • Inflammatory Bowel Disease (IBD)-associated Arthritis: People with Crohn's disease or ulcerative colitis may develop arthritis, and some of these cases are linked to HLA-B27.

What it Doesn't Mean

It's crucial to understand that being HLA-B27 positive does not mean:

  • You will definitely develop an autoimmune disease. Many individuals with HLA-B27 never develop any related symptoms or conditions.
  • It's a definitive diagnosis. The test is used as a piece of the puzzle, along with clinical symptoms, physical examination, imaging results, and other blood tests, to make a diagnosis.
  • It causes the disease. While it is a strong genetic risk factor, the exact mechanisms by which HLA-B27 contributes to these diseases are still being researched, and other genetic and environmental factors are also involved.

When is HLA-B27 Testing Performed?

A healthcare provider may order an HLA-B27 test if an individual presents with symptoms suggestive of a spondyloarthropathy, such as:

  • Chronic back pain, especially if it worsens with rest and improves with activity.
  • Inflammation in other joints, particularly in the lower limbs.
  • Recurring eye inflammation (uveitis).
  • Family history of ankylosing spondylitis or other related conditions.

In conclusion, an HLA-B27 positive result signifies the presence of a specific protein on your white blood cells that increases your genetic susceptibility to certain autoimmune diseases, particularly those affecting the spine and joints. It's an important piece of diagnostic information but requires further clinical evaluation for a definitive diagnosis.