I have back pain and positive HLA B27 test – What disease I have ?

What is HLA B27 ?

HLA B27 is a gene which is present in many people. All over the world, it is a gene which can be present in 2-10 percent of total population. This means 1 in 10 to 1 in 100 people in the world can have HLA B27 gene.

Is HLA B27 a disease ? Is it dangerous ?

HLA B27 is just a gene present in many people. It itself causes no harm. Having this gene just increases the chances of few diseases (read further).

How did I get HLA B27 gene ?

You must have it from one of your parents who also has the gene present and they would have it from their parent. As we have said above, it is not a disease. Not everyone with HLA B27 has some disease. Your parents might or might not have the disease, even if they have the gene. Usually, it is very uncommon for both parents to carry this gene (very less chances as 90-98% people do not have this gene). If only one parent has the gene, there are only 50 percent chances that it will go to their children. Therefore, even if you are positive for HLA B27, it’s not necessary that your brothers or sisters will also have that gene.

Why and when doctors do HLA B27 test ?

We do HLA B27 test in some situations where we need to find the chances of someone having a particular type of arthritis or eye disease (we have described them below). This test is only done to support the chances. This test cannot confirm that one has the disease. Even if someone has HLA B27 positive, we still need to do other tests before saying that person has the disease.

What diseases are associated with HLA B27 gene ?

First understand that even if somebody has HLA B27 gene positive, there are only 1-5 percent chances that they will develop the following diseases.

The diseases which have strongest association with HLA b27 are (these are diseases for which HLA b27 test is commonly done)

Ankylosing spondylitis (Axial spondyloarthritis / peripheral spondyloarthritis)

Juvenile enthesitis related arthritis (ERA) – This is a arthritis disease which is similar to spondyloarthritis group of diseases as above, but occurs in children.

Acute anterior uveitis – a type of inflammation front of eye or anterior part

Severe reactive arthritis (Previously known as reiter’s disease)– This is an arthritis which can occur after somebody has diarrhoea or urine infection.

Most patients (70-90 percent) with above three diseases have positive HLA B27 gene.

Many patients have both ankylosing spondylitis and uveitis. In that case one problem might come earlier than another.

Read more : Learn everything about Ankylosing spondylitis in brief through this article, What is ankylosing spondylitis and how do we treat it ?

Can HLA B27 positive be associated with other diseases than ones mentioned above ?

There is some evidence that HLA b27 can be positive in many patients with psoriatic arthritis and inflammatory bowel diseases like ulcerative colitis and Crohn’s disease. But we are not sure that if there is a definite relation. Also, please understand that HLA b27 is a gene which can be present in many people, who will never develop any related arthritis. They can develop any disease which is not related to HLA b27. Just because someone does that test and it shows they have that gene, doesn’t mean patient has disease related to it. It requires many other things to make a proper diagnosis. A positive HLA b27 alone doesn’t mean anything.

My parent / brother / sister has HLA b27 positive. They also have uveitis and /or arthritis. I am also HLA b27 positive. Will I develop some disease ?

Can I marry a HLA b27 positive patient ? What are chances of child having HLA b27 gene / related disease ?

If one has a parent / brother / sister who has HLA b27 related disease (like ankylosing spondylitis), and they are also HLA b27 positive, their chances of developing that disease increases. But again, it is not 100 percent that they will develop the disease.

Also, in one family if there are many people with HLA b27 positive, everybody might have different issues or different severity of disease. For example : A family might have HLA b27 positive father with severe ankylosing spondylitis, with a son with just uveitis and a daughter with no disease despite being HLA b27 positive. However, son can also develop ankylosing spondylitis later. Daughter can develop uveitis or ankylosing spondylitis later. One might have mild disease and other might have severe disease etc.

As we have said just being HLA b27 positive doesn’t mean one has disease. Also, if you marry or have a relationship with a partner having a disease like ankylosing spondylitis / uveitis, it is your own choice. There is nothing wrong in taking that decision as long as one’s partner discusses openly about it. There is very good treatment available for all the above diseases. Also, HLA b27 gene and related diseases are not transmitted sexually. Also, as we have said, there are 50 % chances that child of such a partnership will have HLA b27 gene. That doesn’t mean that the child will have some disease and even if he / she has it, that doesn’t mean it will be severe.

If HLA B27 is positive even in normal people, then why do doctors do this test?

As we have said, along with other tests, it helps us to confirm a diagnosis if somebody has a problem. For example, suppose somebody has back pain which is like ankylosing spondylitis. We will do HLA B27 test, some more blood tests, x-ray and MRI to confirm things.

Why should one show a Rheumatologist doctor after HLA b27 is positive in a person with joint / back pain? How are they different then orthopaedic doctors who often treat back pain?

First understand the difference between rheumatologist and orthopaedic doctor in this article – What is arthritis and who is a Rheumatologist ?

Having back pain and HLA B27 possibility increases the chances of one having arthritis like ankylosing spondylitis. So, it is helpful. But, as we have said, it is not 100 percent confirmed. We need to look at many other things before making a diagnosis. They can also have something different (see examples below).

A Rheumatologist doctor has training to diagnose and treat these types of arthritis. These arthritis are treated by medications (like methotrexate, biologics etc), which require a lot of training. They are also trained to give a real idea to the patient on how their disease is going to behave in the future. For example : Many reactive arthritis patients are wrongly labelled as Ankylosing spondylitis by many general doctors, because both can have HLA b27 positive. A Rheumatologist doctor can help to diagnose difference between two. It is very important to understand which disease you have, rather than just saying that one is HLA b27 positive. It is because reactive arthritis can resolve within 3-6 months. Ankylosing spondylitis can be a life-long disease. Both can have totally different follow-up and treatments.

HLA b27 is positive in many normal people. If they develop a disease which is unrelated to HLA b27 gene, the positive test can confuse general doctors. For example, somebody with spine tuberculosis (TB) can have HLA b27 positive. That doesn’t mean that patient has HLA b27 related arthritis. It is unrelated. Spine TB needs very different treatment and approach. Again, Rheumatologist’s are trained at making a proper diagnosis.

Orthopaedic doctors are good surgeons. But they don’t have the training to treat different types of arthritis, to handle their medicines. They are not trained to follow-up these patients and take proper decisions in the long run.

Examples of how HLA b27 may or may not be related to patient’s problem and why it is better to show a rheumatologist (real life examples):

• A rheumatologist was referred a 27-year-old male patient with low back pain, more in buttocks region which used to get very worse in the mornings. His HLA B27 was positive. His MRI showed bilateral sacroilitis and he had father who had ankylosing spondylitis. The diagnosis made was : Ankylosing spondylitis. The patient will be followed up regularly in future by rheumatologist doctor and treated accordingly.
• A patient with 5-day history of sudden onset arthritis in knees, ankles and back pain had been found to be HLA b27 positive. A Rheumatologist doctor saw him. He asked for more history and patients gave history of diarrhoea 1 week back. Diagnosis was : Severe Reactive arthritis (previously known as Reiter’s disease). The treatment given was anti-inflammatories and steroids for few days. Later patient got better, and all treatment was stopped.
• A rheumatologist was referred a 18 year old patient who was having lot of hip pain and difficulty in walking. He had HLA b27 positive 1 year back and orthopaedic doctor gave him some medicines. The patient kept on showing the orthopaedic doctor and hip pain kept on worsening with patient having a very odd walking posture. Rheumatologist saw him 1 year after this episode. The diagnosis was: Ankylosing spondylitis with hip fusion bilaterally. The patient should have been put on biologics much earlier as his Ankylosing spondylitis was very severe. As he was not evaluated thoroughly by orthopaedic doctor who are not trained in these matters, his hip joints got damaged. It was too late to do anything now and patient might need bilateral hip replacement at a very young age.
• A 29-year-old female was seen by a rheumatologist in view of HLA b27 positive and one-month history of left lower back ache. As she was HLA b27 positive everybody, including orthopaedic doctor she saw, thought she has Ankylosing spondylitis and gave her some pain killers. However, her back pain got really worse over next few days. Her relatives searched on internet and went to a rheumatologist. The rheumatologist on further asking found that her back pain was extremely severe and worsened over last few days, she had mild fevers in evenings and had lot of weight loss. A MRI of back was done and it appeared that there was Tuberculosis in spine. A biopsy was done to confirm, and patient got better with Anti TB treatment. Now, this case shows that just having HLA b27 positive doesn’t mean one has arthritis. It can be coincidentally positive, and patient might have totally unrelated disease.
• A ophthalmologist saw a patient with recurrent attacks or episodes of inflammation in eye called uveitis. He was HLA b27 positive and complained of some back and heel pain. A rheumatologist was called. They did more tests an MRI. Diagnosis was : Ankylosing spondylitis with recurrent uveitis attacks.
• A 55 year ole male was referred to rheumatologist with low back pain and HLA b27 positive. The patient had very mild pain and had diabetes. There was no inflammation on MRI. There were some degenerative changes. We diagnosed him as having DISH which is a spine disease which looks like Ankylosing spondylitis, but doesn’t cause much pain and doesn’t require much treatment.
• A 45 year old male presented with three month history of arthritis and difficulty in walking. He had swollen ankle, knee joints and some swelling wrists too. He did not have spine pain. Orthopedician though it is rheumatoid arthritis and started him on that treatment. Patient was sent to Rheumatologist, who did not think the pattern fitted Rheumatoid arthritis. Rheumatologist did HLA b27 gene which was present in patient. Patient also had past history of eye inflammation attacks, called uveitis. His Rheumatoid factor was borderline positive. The final diagnosis was not Rheumatoid arthritis, but peripheral spondyloarthritis and treatment was started for same.

Can HLA B27 test become negative ? Is there a point in repeating the test ?

HLA b27 is a gene present in one’s body. It doesn’t go away. Once somebody is HLA b27 positive, they will always remain positive. There is no point of doing test again. Only time we repeat test is when we are not sure about the first result. Otherwise it is a costly test and there is no point in it being repeated.

How can we cure HLA b27 related diseases ? Does Ayurveda / homeopathy help in HLA b27 related disease ?

As we have told above, HLA b27 gene is not a disease. There is no cure for HLA b27 related diseases in Ayurveda or homeopathy.

We don’t treat HLA B27. We treat what disease patient has. Some HLA b27 diseases might never occur once they go away and some become totally silent for long periods. Every person with same HLA b27 related disease is different. A rheumatologist or ophthalmologist will first see whether a HLA b27 positive person has any related disease. Once they diagnose, treatment will be done depending on what disease patient has. They will also advice patients on what to expect in future and can also give them a plan accordingly.

In summary,

• HLA b27 is a gene present in many people. It can be present in 2-10 percent of total population in various parts of the world.
• One gets HLA b27 gene from one of the parents. Because 90-98% of people don’t have this gene, it is very uncommon for both parents to have same gene. If one parent is positive for HLA b27, there are 50 % chances that it will go to one of their children.
• If one has a family member with some HLA b27 disease (see below) and if they have HLA b27 gene, there are slightly higher chances that they will develop disease. But again, it is not 100 percent that all HLA b27 positive will develop disease.
• It can be associated with arthritis diseases like Ankylosing spondylitis (Axial spondyloarthritis / peripheral spondyloarthritis), Juvenile enthesitis related arthritis (ERA) Reactive arthritis (ReA) or eye disease like acute anterior uveitis (AAU). We usually do HLA b27 test when we are trying to make a diagnosis of one of these diseases.
• HLA b27 test is done as a supporting test to diagnose above disease. Just having a positive HLA b27 test doesn’t mean anything. We have to do other tests or see other things before making a proper diagnosis.
• Rheumatologists are the ones who know how to make sense of HLA B27 test. They are experts in this field. For uveitis, one needs to show ophthalmologist.
• HLA b27 gene is present in many normal people without any of eye or arthritis disease. They might develop other diseases of joints, bones or eye like any other person. Every HLA b27 positive patient with bone or eye problems doesn’t mean they have problems related to this test. Rheumatologist can help in making a proper diagnosis, suggesting better treatment and follow-up.
• HLA b27 is a gene present at birth and for lifetime. Once HLA b27 positive test is detected in somebody, it will obviously always be positive. There is no pointing repeating this costly test except if the first result is in doubt.
• For many reasons, clarified above, marrying or having a relationship with HLA b27 positive person and having a child together should not be a major issue. Any outcome of same is manageable in today’s age.
• The treatment of HLA b27 diseases depends on exact disease patient has. Some HLA b27 diseases may never recur after they heal or it may go silent for long periods. Every person with similar HLA b27 related disease is different. A rheumatologist or ophthalmologist will first see whether a HLA b27 positive person has any related disease.

If you have doubts, please feel free to contact us. We try our best to give a proper reply within 1 week.