Can Rheumatoid Arthritis Go Undetected? the Challenges - Internal Medicine

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Is it possible for rheumatoid arthritis to go undetected in tests?


Hello, earlier this year my mother (born in 1971, 52 years old) has been experiencing unbearable pain in both hands, especially at night when the pain is particularly severe in her finger joints.
Additionally, her palms feel very hot, and they hurt significantly when exposed to hot water.
This has persisted for almost a year without any improvement, and the pain seems to be getting worse.
During this time, she has consulted various specialists and undergone numerous tests without any conclusive results.
Since some friends and family members have rheumatoid arthritis, we felt that her symptoms were very similar, so we sought further evaluation at another hospital.
Although the doctor performed an ultrasound during the initial consultation and suggested rheumatoid arthritis due to the presence of red spots around the bones on the screen, subsequent blood tests did not show any markers for rheumatoid arthritis.
However, X-rays revealed black spots in the joints, which were symmetrical on both sides.
While the test results ruled out rheumatoid arthritis, which relieved some of our concerns, we are still unsure about the actual cause of her symptoms.
What other conditions could potentially explain these symptoms? Is it still possible that it could be rheumatoid arthritis despite the negative test results? I apologize for the lengthy message, but I hope to help my mother find relief from her pain.
Thank you for your assistance.

Pinpin, 20~29 year old female. Ask Date: 2015/12/10

Dr. Zeng Guosen reply Internal Medicine


Hello, Ping Ping; the diagnosis of rheumatoid arthritis must consider 1.
clinical joint symptoms 2.
rheumatoid factor and anti-CCP antibody tests 3.
inflammatory markers 4.
duration of symptoms 5.
imaging studies such as X-rays and ultrasound for evaluation.
Joint discomfort can have other potential causes besides rheumatoid arthritis, so differential diagnosis is necessary, and it is difficult to make a judgment based solely on written descriptions.
Thank you for your question.

Reply Date: 2015/12/10

More Info


Rheumatoid Arthritis (RA) is a complex autoimmune disease that can indeed go undetected for a significant period, particularly in its early stages. The symptoms you describe regarding your mother—persistent joint pain, especially in the hands, heat in the palms, and exacerbation of pain at night—are classic indicators of RA. However, the diagnostic process can be challenging due to several factors.


Understanding the Challenges of Diagnosing RA
1. Variability of Symptoms: RA symptoms can vary widely from person to person. While some may experience severe pain and swelling, others might have milder symptoms that can be mistaken for other conditions, such as osteoarthritis or tendinitis. In your mother's case, the pain and heat in her hands could be indicative of RA, but they could also be symptoms of other inflammatory or degenerative joint diseases.

2. Blood Tests and Biomarkers: The diagnosis of RA often relies on blood tests that look for specific markers, such as rheumatoid factor (RF) and anti-citrullinated protein antibodies (anti-CCP). However, not all patients with RA will test positive for these markers, especially in the early stages of the disease. In fact, some studies suggest that up to 30% of patients with RA may be seronegative, meaning they do not have detectable levels of these antibodies despite having the disease. This could explain why your mother's blood tests did not indicate RA, even though her symptoms suggest otherwise.

3. Imaging Studies: Imaging techniques, such as ultrasound and X-rays, can provide valuable information about joint inflammation and damage. The presence of "red dots" on ultrasound, which indicate increased blood flow and inflammation around the joints, can be a strong indicator of RA. However, X-rays may show changes only after significant joint damage has occurred, which can lead to a delay in diagnosis.

4. Symptom Overlap with Other Conditions: RA shares symptoms with various other conditions, including fibromyalgia, lupus, and even certain infections. This overlap can complicate the diagnostic process, as healthcare providers may consider these other conditions before concluding that RA is the cause of the symptoms.

5. Chronic Nature of Symptoms: The chronic nature of your mother's symptoms, persisting for nearly a year, is concerning and suggests that there is an underlying inflammatory process. However, the absence of definitive test results can lead to frustration for both patients and healthcare providers.


Possible Next Steps
Given the complexity of diagnosing RA and the persistence of your mother's symptoms, here are some recommendations:
1. Consult a Rheumatologist: If you haven't already, seeking a consultation with a rheumatologist who specializes in autoimmune diseases can be beneficial. They may have more experience in diagnosing conditions like RA and can perform a more comprehensive evaluation.

2. Consider a Second Opinion: If your mother has seen multiple doctors without a clear diagnosis, it may be worthwhile to seek a second opinion from another rheumatologist. Different specialists may have varying approaches to diagnosis and treatment.

3. Monitor Symptoms: Keeping a detailed record of your mother's symptoms, including when they occur, their severity, and any potential triggers, can provide valuable information to healthcare providers. This can help in identifying patterns that may lead to a more accurate diagnosis.

4. Explore Other Diagnostic Tests: In some cases, additional tests such as MRI or more advanced blood tests may be warranted to assess joint inflammation and rule out other conditions.

5. Pain Management: While awaiting a definitive diagnosis, managing your mother's pain is crucial. Over-the-counter anti-inflammatory medications, physical therapy, or even corticosteroid injections may provide relief. Discuss these options with her healthcare provider.


Conclusion
In summary, while it is possible for RA to go undetected, the persistence of your mother's symptoms warrants further investigation. The diagnostic process can be complex, and a multidisciplinary approach involving rheumatologists and possibly other specialists may be necessary to arrive at a conclusive diagnosis. In the meantime, focusing on symptom management and maintaining open communication with healthcare providers will be essential in addressing her pain and improving her quality of life.

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