Why Are There Uncertainties In Lupus Diagnosis?
Lupus, like many other autoimmune conditions, can be difficult to diagnose. Receiving an accurate diagnosis may take months or even years. Some of the reasons for a long time to diagnosis are related to uncertainties. Slowly developing and non-specific symptoms, a lack of guaranteed diagnostic tests and communication issues can all lead to various uncertainties and delay a lupus diagnosis.
Fluctuating lupus symptoms
The symptoms of lupus can take years to develop. More characteristic symptoms, like lupus-related kidney issues or the facial butterfly rash, may not show up until the condition has progressed for some time. Especially in early lupus, non-specific symptoms like joint or muscle pain, fatigue, or fever may not be strong enough to suggest a lupus diagnosis. Some doctors refer to this stage as the pre-lupus or evolving lupus stage.1
Not only are symptoms slow to develop, but they can also change. Lupus-related issues can wax and wane over time. Sometimes, a person may experience few to no symptoms, and other times may have a severe flare. Figuring out that separate occasions of symptoms are related to an underlying issue like lupus can take some time and long-term observation.
Non-specific symptoms like fatigue can be hard to understand on their own, however, even when additional symptoms develop, they may mimic other conditions. For example, significant joint pain and rashes may also point toward other autoimmune conditions like rheumatoid arthritis, dermatomyositis, or scleroderma. This can make it challenging for doctors to sort out symptoms and determine the underlying cause. In addition to similar physical symptoms, many autoimmune conditions produce similar results on diagnostic tests. These include tests for specific antibodies in the blood that can be found across different conditions.1,2
As mentioned, diagnostic tests are not perfect because the same results can point toward different issues. There is no one, guaranteed diagnostic test for lupus. Testing for autoantibodies in the blood (proteins that attack healthy tissue) can be helpful, but the results are often muddled. As an example, most people with lupus will test positive for the anti-ANA antibody. However, some people without lupus will also test positive for this, and some with lupus will test negative. Lab tests can also change over time, and may not completely represent what is going on. Other antibodies found in lupus, like the antiphospholipid antibodies, anti-dsDNA, and anti-Sm are found across multiple conditions. Having these may indicate that a person has an autoimmune condition, but it does not indicate which specific one.2,3
Other markers of inflammation like C-reactive protein, erythrocyte sedimentation rate (ESR), and complement levels can be changed in a variety of different situations, not just in lupus. In addition, although lupus is thought to be caused by both environmental and genetic factors, there are over 100 different gene mutations thought to potentially be involved. It is impossible right now to test for one or two specific genes and feels completely confident that someone has lupus.3
In order to diagnose lupus, doctors need to consider clinical symptoms along with the results from multiple blood tests, imaging studies, and even biopsies of specific organs (like the kidneys). This process can take a long time to complete.
Another big factor in diagnosing lupus is communication. Over time, a person with lupus may have seen multiple different doctors or specialists. If these doctors are not communicating with each other, clues pointing toward lupus may be missed. Communication is also important between a person with lupus and their doctor, too. It can be hard to remember everything that has happened, especially if things have been going on for years. However, not giving an accurate account of all symptoms, tests, or treatments to your doctor may delay diagnosis.
Lupus diagnosis time
Even though diagnosis can be challenging, there are things you (or a loved one) can do to help speed the process along if there is a concern for lupus:
Educating yourself on the signs of lupus and other autoimmune conditions may help you better identify your symptoms. It can also help you determine what additional things to keep an eye out for in the future that might warrant a doctor’s visit.
Track lupus symptoms
Tracking your symptoms is also helpful in getting a diagnosis. Using a symptom tracker or keeping a journal of symptoms, appointments, or treatments can be helpful in making sure you are fully informing your doctor on what is going on. You can also bring a list of questions to any doctor’s visit and ask about lupus or other autoimmune conditions.
See a lupus specialist
Seeing a rheumatologist (someone who specializes in treating autoimmune conditions like lupus) may also be helpful. These experts may be able to help swiftly navigate the diagnostic process with you. Sometimes, if a person tests positive for autoantibodies, they may be automatically sent to a rheumatologist. However, you can always ask a primary care provider or another medical professional you see for a referral to a rheumatologist.
If you were diagnosed with lupus, what was the process like? Did it take a long time for you to receive answers? Let us know!
How many times were you misdiagnosed before learning you were living with lupus?