Juvenile Ankylosing Spondylitis Symptoms and Diagnosis

Q: Juvenile Ankylosing Spondylitis Symptoms and Diagnosis

Hello, thank you for your question. <br>Here are my thoughts： 1. <br>We will not retest for HLA-B27. <br>2. <br>If the inflammatory markers are normal (such as CRP and ESR), and there is only swelling in the toes without other symptoms, we might consider using anti-inflammatory p

Symptoms of juvenile ankylosing spondylitis?

Hello Doctor: My son is 14 years old (in the second year of junior high school).
Three months ago, he experienced unexplained swelling in the second joint of his toe, with no other discomfort.
At that time, the doctor ordered blood tests, which revealed the presence of the HLA-B27 gene, but the erythrocyte sedimentation rate was 13 and the C-reactive protein was 4.1, both of which are within normal limits.
The doctor diagnosed him with ankylosing spondylitis solely based on the presence of the HLA-B27 factor and started him on medication.
Now, three months later, the swelling in his toe has not improved, and the medication has been intensified, including the addition of anti-inflammatory drugs, which has caused me, as a mother, to worry about the accuracy of this diagnosis.
Should I seek other possibilities or ask the doctor to conduct further tests? The father later discovered he has the gene, but neither he nor any family members have exhibited symptoms.
I have also consulted other rheumatologists, who based their opinions solely on the reports I provided, without considering my request for re-evaluation, which is quite concerning.
I would appreciate your insights.
Thank you.

Jiang Jiang, 40~49 year old female. Ask Date: 2024/05/31

Dr. Gao Jiankai reply Internal Medicine

Hello, thank you for your question.
Here are my thoughts: 1.
We will not retest for HLA-B27.
2.
If the inflammatory markers are normal (such as CRP and ESR), and there is only swelling in the toes without other symptoms, we might consider using anti-inflammatory pain relief medication alone, but close monitoring would be necessary.
However, for us, in young children with joint redness, swelling, heat, and pain, even if the inflammatory markers are normal, we tend to be more proactive with medication treatment.
The goal is to protect the joints and prevent future joint damage that could affect the child's quality of life.
Additionally, medications do have side effects, and our approach is to maximize the therapeutic effects while minimizing side effects.
Therefore, the prescribing physician will be very cautious, especially with younger patients.
3.
If you are still very concerned, I suggest seeking opinions from other rheumatologists before making a decision.
The Allergy, Immunology, and Rheumatology Department of Changhua Hospital, Ministry of Health and Welfare, cares about you.

Reply Date: 2024/05/31

More Info

Juvenile Ankylosing Spondylitis (JAS) is a form of inflammatory arthritis that primarily affects the spine and the sacroiliac joints, which connect the spine to the pelvis. It is characterized by chronic pain and stiffness, particularly in the lower back and hips, and can lead to reduced mobility over time. Understanding the symptoms and diagnosis of JAS is crucial, especially when it comes to managing the condition in adolescents.

In your case, your 14-year-old son has experienced swelling in the second toe, which is an unusual symptom for JAS. While JAS typically presents with back pain, stiffness, and sometimes peripheral joint involvement, isolated toe swelling can be indicative of other conditions, such as reactive arthritis or other forms of inflammatory arthritis. The presence of the HLA-B27 antigen is significant, as it is associated with a higher risk of developing ankylosing spondylitis and related spondyloarthritis. However, it is important to note that not everyone with HLA-B27 will develop these conditions, and many individuals who test positive may never experience any symptoms.

The laboratory results you mentioned, including a normal erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP), suggest that there is no significant systemic inflammation at this time. This is an important factor to consider, as elevated levels of these markers typically indicate active inflammation. The fact that your son’s toe swelling has not improved after three months of treatment raises concerns about the initial diagnosis and the effectiveness of the current management plan.

Given the complexity of autoimmune and inflammatory conditions, it is entirely reasonable for you to seek a second opinion or request further evaluation. A thorough assessment by a rheumatologist who specializes in pediatric cases may provide additional insights. This could include imaging studies, such as X-rays or MRI, to evaluate the spine and sacroiliac joints for any signs of inflammation or structural changes associated with JAS. Additionally, a comprehensive review of your son's medical history, family history, and a detailed physical examination can help clarify the diagnosis.

It is also essential to consider other potential diagnoses that could explain the toe swelling. Conditions such as gout, psoriatic arthritis, or even infections should be ruled out. A rheumatologist may also consider other serological tests to assess for other inflammatory markers or autoimmune conditions that could be contributing to your son's symptoms.

In conclusion, while the presence of HLA-B27 is a factor in diagnosing JAS, it should not be the sole criterion for treatment, especially in the absence of significant inflammatory markers and with the persistence of symptoms. Seeking a second opinion or further diagnostic testing is a prudent approach to ensure that your son receives the most accurate diagnosis and appropriate treatment. Open communication with healthcare providers about your concerns is vital in managing your son's health effectively.

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