Avoid Autoimmune Diagnosis Delay – Tips For Early Doctor Visits, But Most Importantly: Trust Your Instincts
One of the most frustrating aspects of autoimmune disease, for patients and physicians alike, is often the confusion and uncertainty surrounding the diagnostic process. Because autoimmune diseases are very commonly first misdiagnosed one or more times before being definitively labeled “autoimmune”, this process – which in many cases is dependent on a lot of generalized, non-specific signs and symptoms – can lead to substantial delays in a definitive diagnosis, and the lack of treatment that results as a consequence of this diagnostic delay. Below we examine further this unfortunate medical phenomenon as it pertains to autoimmune conditions, and discuss whether and how patients can help speed up recognition of their conditions, allowing doctors to more accurately pinpoint and address the problem in a timely manner.
Is there any research about how many years it takes for the average autoimmune diagnosis? What about a second or third autoimmune condition – are those diagnosed faster?
There is quite a bit of research to be found that investigates diagnostic delays, their causes and ways to improve this situation. Some of these studies and reports simply identify that there is a problem that needs to be addressed, offering possible reasons and suggestions for the future; others examine average delays for specific diseases, many of which are regrettably measured in years rather than days/weeks/months.
Because there is such variability in the presentation and course of these autoimmune conditions, there is no single measure of the average time to diagnosis (from initial symptom onset) for all autoimmune conditions. For instance, it takes an average of 4.7 years from the time of the first symptoms to diagnosis of Sjögren’s; for rheumatoid arthritis, it takes between one and three years on average. Despite the lack of a single measure of the average diagnosis timeframe, there are many articles and studies about delay in diagnosis, for instance in the following conditions:
- Autoimmune liver disease
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Celiac disease
- Celiac disease in patients with type 1 diabetes
- Immunodeficiency disorders in children
- Sjogren’s syndrome
In general, additional autoimmune diagnoses are often made more readily once the first condition has been recognized, most often because patients have usually been properly referred to the correct specialist(s), who are better versed in identifying and treating autoimmune and related conditions. Also, even primary care physicians should generally be aware that the presence of one autoimmune disease means that additional diagnoses may be on the horizon. This increased awareness among one’s treating physicians serves to keep them hyper-vigilant in detection of and diagnostic efforts regarding further autoimmune developments, which thus reduces the time to diagnosis for secondary conditions.
What are the main reasons for a slow diagnosis?
There are two primary reasons for a slow diagnosis in the face of autoimmune pathology. First, many of the early symptoms of autoimmune disease can be extremely generalized and non-specific (fatigue, GI discomfort, vague aches and pains, etc.), which leaves the clinician with many not-so-clear choices of how to proceed and in which direction, often heading down what appears to be the correct path, only to later discover that he or she was looking in the wrong place all along. Even apparently more specific indicators such as autoimmune arthritis have a long list of differential diagnoses (possible causes), and multiple sclerosis has many diseases that ‘mimic’ it, making diagnosis difficult. Lupus is similar in this way as well.
Second, this aspect of autoimmune diagnosis delay also contributes to patients themselves often dismissing these seemingly random symptom clusters as non-issues for quite some time before addressing them directly and bringing them to the doctor’s attention. And even when brought to the clinician’s attention, such problems are often initially presumed to be some sort of passing viral infection, since the early symptoms of many autoimmune conditions are similar to fleeting infections, and vice versa.
What tests could I ask for to eliminate autoimmune triggers as the root cause of my symptoms? Are there any other things I can do to help ensure a quicker and more accurate diagnosis?
The tests that help ferret out the exact autoimmune pathology taking place are primarily antibody tests (along with some that measure more general levels of inflammation – and are thus less helpful). While there are several lab tests that are used more generally to determine whether there is an autoimmune process at work, there are also dozens that are utilized more specifically to identify the exact disease present, and sometimes these measures even overlap.
Therefore, at present, other than a generalized test panel, it would be difficult to request more specific tests to evaluate one’s condition until symptoms appear, since that would require many often costly tests be performed in an attempt to rule out anything and everything autoimmune. However, once symptoms appear, the exact nature of these indications will help steer the patient and clinician to more direct and specific laboratory assessment. Unfortunately, this frequently leaves a large window between the rise of autoantibodies in the serum and the appearance of symptoms, sometimes years later.
However, things do seem to be changing regarding earlier detection of autoimmune disease. Recent years have seen multiple efforts aimed at making quicker diagnoses and developing techniques designed to help predict the presence of autoimmune conditions before they become symptomatic. This is being accomplished via a combination of autoantibody detection and genetic testing for predisposition to autoimmune diseases. Other efforts are focused on more rigid standardization for autoimmune testing and more precise reference ranges across laboratories and regions. And perhaps most promising in this regard are recent attempts at developing “autoantibody profiles”, which researchers hope will someday be used as patient-specific indicators of overall autoimmune status, and for earlier prediction of potential autoimmune onset in the future.
Finally, though they are often unaware that a deleterious process is afoot, patients can help their doctors and themselves by not dismissing seemingly vague or random symptoms. What seems unimportant to a patient may indeed provide crucial clues as to which direction to proceed. While many patients don’t want to “bother” the clinician with “little” issues, that is what he or she is there for, and it is always better to be safe than sorry. Those who already have a diagnosis of one autoimmune disease should familiarize themselves with some common signs of other autoimmune conditions. And regardless of current autoimmune status, all patients should trust their instincts, reaching out to the doctor when something just doesn’t feel right – and changing health providers if your current doctor is not listening to your concerns.
Questions for your doctor:
- Given my current status, are there specific tests we can do to help eliminate or confirm the presence of certain conditions and antibodies?
- If I already have one autoimmune condition, which additional conditions am I most likely to develop, and what specifically should I watch out for?
- How can I best help you to help me in diagnosing and treating my autoimmune conditions?
- Can you direct me to more information on the forefront of autoantibody and genetic testing related to autoimmune disease?
- Should other members of my family be tested if I currently carry one or more autoimmune diagnoses?
About the Author
Dr. Rothbard is a professional medical writer and consultant based in New York City, specializing in medical education articles targeted at a variety of audiences, from children through clinicians. After leaving medicine, he worked as a biology and medical science educator for several years, before deciding to pursue writing full-time. He may be reached at email@example.com.
This blog post was originally published by AutoimmuneMom.com, written by Dr. Rothbard, and first published on Dec 5, 2013.
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