Autoimmune Disease: What It Is and Why You May Want to Test for It

By Sara Szal Gottfried, MD, December 20, 2023

Your immune system is designed to sense trouble, but it can also cause trouble. We have a growing problem with autoimmunity: rates of autoimmune disease are increasing rapidly across the globe, yet current screening and diagnostic testing are imprecise and not individualized. [1,2]

Dr. Sara Gottfried on autoimmune disease

Approximately 24 million Americans are currently diagnosed with autoimmune disease. [3] Given that one in ten people suffer with autoimmune disease, and that most of us receive medical care based on levels for the average person, our standard of care falls short of the goal of remission or even cure of autoimmunity. [1,4]

Whether you have Hashimoto’s thyroiditis, multiple sclerosis, rheumatoid arthritis, or another of the 100-plus autoimmune diseases, you may see more than four doctors and wait approximately four years for a correct diagnosis, yet early diagnosis is a hallmark of improved clinical course. [5-9]


“Your immune system is designed to sense trouble, but it can also cause trouble.”

– Sara Szal Gottfried, MD


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What is autoimmunity?

Autoimmunity occurs when your immune system has difficulty distinguishing your healthy cells from foreign substances (known as antigens) that may induce an immune response. Antigens can be toxins or other factors that trigger the production of self-antibodies or autoantibodies (antibodies against normal cells). 

It’s important to separate autoimmunity, which is a pre-disease state, from autoimmune disease. Autoimmunity is differentiated by self-reaction to immune components, whereas autoimmune disease is the combination of autoimmune disease plus pathology, such as tissue destruction. [10] 

What are the most common types of autoimmune diseases?

The autoimmune diseases that are rising most rapidly include celiac disease, Sjogren’s syndrome, and Graves’ disease. [11] Women are affected at much higher rates than men for nearly all autoimmune diseases, likely owing to hormonal factors and toxic stress. [12-14] 

Of late, experience with the global pandemic suggests that Long COVID, which is when symptoms from COVID persist longer than four weeks, may trigger new onset autoimmune disease. [15] 

Further, there are other conditions that reflect self-attack of normal tissues that may represent atypical autoimmune disease, such as polycystic ovary syndrome, endometriosis, breast implant illness (sometimes referred to as silicone breast implant illness), and fibromyalgia—and some atypical conditions are associated with other autoimmune diseases. [16-29]

autoimmune disease infographic

How conventional medicine falls short

Autoimmune disease is an example of how conventional medical care can fail a person who is suffering with symptoms. When a patient comes to see me, usually they are desperate for help and answers. Often they struggle with a host of symptoms that no one is aggregating into an accurate diagnosis—joint pain, fatigue, rashes, brain fog, gut issues, and others. 

Perhaps you suffer with similar ailments, common symptoms of autoimmunity. The average person with autoimmune disease, in which the body attacks healthy tissues in a case of mistaken identity, waits too long for a diagnosis. What leads to such a long and sometimes expensive wait, accompanied by considerable suffering? 

Various problems in the current medical system may lead to a delay in diagnosis and treatment. Firstly, most of mainstream medicine operates in silos: you see one doctor for hormone problems, and another doctor for gut symptoms, and yet another doctor when your joints are hurting. Secondly, modern medicine is disease-centered, not health-centered, so the transition from health to predisease (autoimmunity) to disease (autoimmune disease) is commonly recognized only when symptoms are present, disabling, and physical exam and testing confirms a diagnosis of disease.

How does autoimmunity develop?

While we do not understand the cause of most autoimmune diseases, Alessio Fasano MD, the Division Chief of Pediatric Gastroenterology and Nutrition and Director of the Center for Celiac Research and Treatment at Massachusetts General Hospital, has published important insights. He has found that autoimmune disease requires a combination of genetic predisposition, increased intestinal permeability, and a trigger (such as infection or toxic stress). [30-32] For autoimmunity and many autoimmune diseases, subtle changes can be measured in a blood test.

According to the latest projections, autoimmune disease will soon become a predominant form of illness in the world. Current evidence implicates the momentous alterations in our foods, xenobiotics, air pollution, infections, personal lifestyles, stress, and climate change as causes for these increases. [33]

The value of personalized approaches like blood testing for autoimmunity

As we witness the rise in autoimmunity, it’s time to develop more personalized approaches to these conditions in a variety of populations so that we can customize solutions. Blood testing can be very helpful for identifying the people who are at greatest risk of autoimmune disease as early in the disease process as possible, potentially even before symptoms develop. 

At the Marcus Institute of Integrative Health at Thomas Jefferson University, I measure an autoimmune blood panel in nearly every patient that I see. Over the years, we have examined correlations of biomarkers for biological insights and have been able to track anecdotally how changes in diet, micronutrients, gut health, stress and hormone levels are changing the levels of these blood-based biomarkers. Similar studies have been published on data sets in healthy people by the scientific team and advisors to InsideTracker, including Harvard professor David Sinclair, Ph.D. [34,35]


What is the most common test for autoimmune disease?

The most common test for autoimmune disease is the anti-nuclear antibody, which is when you produce antibodies against the contents of the cell nucleus. Researchers have found that the prevalence of anti-nuclear antibodies is increasing in the United States overall since 1988, with the greatest increases occurring in men, non-Hispanic whites, adolescents, and adults who are 50 years and older. [36] According to the U.S. National Health and Nutrition Examination Survey (NHANES), which examined a total of 14,211 subjects, aged 12 and older, more than 41 million individuals were affected by positive anti-nuclear antibodies, and the finding points to the coming rise in autoimmune disease. While standard medical practice is unlikely to be able to address the rise of autoimmune disease, the democratization of data and access to autoimmune testing just might.

Several of the tests that I perform at the Marcus Institute to screen patients for autoimmune disease include DHEAS, antinuclear antibody, and assessment of intestinal permeability, among others. Our hope is that tracking biomarkers in this way, and in a longitudinal context, may allow individuals with pre-disease or even autoimmune disease to potentially normalize their biomarkers and either reduce their risk of autoimmune disease or to enter remission.


While standard medical practice is unlikely to be able to address the rise of autoimmune disease, the democratization of data and access to autoimmune testing just might.

– Sara Szal Gottfried, MD

Gaining awareness through biomarker testing

Autoimmunity is a condition in which your immune system reacts with components of your own cells in a case of mistaken identity. To say that we are failing people with autoimmune disease with the current medical model is a vast understatement. 

My goal is for you to feel empowered by awareness of the subtle changes that we can measure in the body on the way to autoimmune illness, particularly the nonspecific symptoms that may aggregate combined with subtle shifts in blood, stool, and urine biomarkers. 

Ultimately, you will rely on a relationship with a wise clinician who will work with you to review your symptoms, perform tests, complete a physical exam, and hopefully arrive at an accurate diagnosis.




More on this topic

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By Catherine Roy, September 30, 2022
The Blood Biomarkers InsideTracker Measures
By Molly Knudsen, MS, RDN, November 3, 2022
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