Commonly Missed Diagnosis: Early Autoimmune Disease

Amazingly enough, there are more than 100 different autoimmune conditions, which collectively are responsible for more chronic illness and disability in women than heart disease and cancer combined.

Men can get autoimmune diseases too, but the predominance in women (2:1) is striking and also puzzling, though current thinking attributes this susceptibility to a combination of genes and hormones.

Because autoimmune conditions can affect any area of the body, there’s little consistency when it comes to describing each possible illness, not to mention which medical specialty should be caring for the patient. Compare autoimmune illnesses with, for example, cancer. While breast cancer, colon cancer, and skin cancer are relatively straightforward, autoimmune illnesses can affect many disparate parts of the body simultaneously. Thus you can see how chronically ill patients slip through the cracks.

Here’s a partial list of autoimmune conditions:
Autoimmune conditions named after discoverer: Hashimoto’s (thyroid), Sjogren’s (salivary glands), Still’s (juvenile rheumatoid arthritis), Meniere’s (ears), Graves’ (thyroid), Takayasu’s (arteries), Crohn’s (intestine), Addison’s (adrenal), and at least a dozen more.

Autoimmune conditions named after the area affected: ulcerative colitis, rheumatoid arthritis, polyarteritis, ankylosing spondylitis, mixed connective tissue disease, autoimmune hepatitis, pernicious anemia, peripheral neuropathy, and at least 40 more.

Autoimmune conditions you might not have thought were autoimmune: some aspects of post-treatment chronic Lyme disease, multiple sclerosis (MS), celiac disease, Covid-19 long-haul disease, Type 1 (juvenile onset) diabetes, and dozens more.

Then there’s lupus, of course. But don’t forget PANDAS, POEMS, CREST, and others, most of which you’ve likely never heard of. How do so many illnesses possibly get overlooked?

All autoimmune conditions have one factor in common

Your immune system, which is designed to protect your body from foreign invaders (bacteria, viruses, parasites, cancer cells, etc.), suddenly becomes rebellious and turns against you, slowly damaging one or more target organs in your body, reducing that organ’s ability to function properly.

The process can be a slow one. You might experience years of low-level fatigue before your doctor orders the right test, diagnoses your Hashimoto’s thyroiditis (one of the most common autoimmune diseases), and you finally get started on thyroid hormone replacement. Or you might experience years of indigestion and abdominal pain before you learn you have Crohn’s disease. You thought your Lyme disease had been successfully treated with antibiotics when you were 20, but it now resurfaces at 40 with joint pain and brain fog.

With some autoimmune conditions, your immune system is capable of causing major damage. Untreated severe rheumatoid arthritis causes crippling joint deformity. Untreated forms of MS can confine you to a wheelchair for the rest of your life. Lupus can turn off your kidneys. Now your specialist must haul out big-gun therapies (steroids) to suppress your overactive immune system and turn off your inflammatory response (Humira and Remicade). You read the package inserts listing side effects and wonder if this whole mess might have been caught earlier.

The answer is “probably,” and this is an area where doctors disagree. But in much the same way we know that many cancers (though not all) can be prevented by making healthful lifestyle choices, the same holds true with many autoimmune illnesses (though, again, not all).

Slowly progressing symptoms

The symptoms caused by a single autoimmune condition are based on the organ under attack by your immune system. However, fatigue and simply not feeling right seem to apply to them all. After that, it gets more specific. You might have joint pain (rheumatoid arthritis, post-treatment chronic Lyme), back pain (ankylosing spondylitis), digestive symptoms (Crohn’s eosinophilic esophagitis, celiac disease), dry mouth (Sjogren’s), skin changes (scleroderma), or brain fog (MS, Hashimoto’s).

How long you live with the slowly progressing symptoms before you see a health care professional depends on your overall tolerance for discomfort, your access to the health care system (namely: insurance), and the clinical acumen of your clinician.

Because many autoimmune conditions test negative in their early stages, you might hear “We can’t find anything wrong with you” so often that you just give up and live with your symptoms until they overwhelm you.

How and why did you become ill in the first place?

No one disputes that autoimmune disease is on the rise. The question is why, and in answering this the medical specialty called functional medicine seeks the reasons for how and why you became ill in the first place.

Functional medicine proceeds from the assumption that one (or more) of your bodily functions has gone off-kilter and as a result disease followed. There’s no one-size-fits-all in functional medicine, but in working to prevent and reverse autoimmune conditions, practitioner and patient alike learn what steps make for a healthy life and, likewise, what choices can turn against you and lead to an unhealthy one.

Here are four underlying reasons for our current epidemic of autoimmune disease:

• Our eating habits are pretty terrible. We’re eating a diet of high-inflammatory foods laced with chemicals that drive your immune system crazy.

• This eating has led to utter disarray in our guts, where 70% of our immune system dwells. As a result of poor food choices, the inner lining of the gut is damaged into a semi-permeable state called leaky gut. Large food molecules seep into your bloodstream and in attempt to clear them, your immune system churns out antibodies, creating an even larger molecule called an antigen-antibody complex. This molecule triggers inflammation wherever it lands (joints, kidneys, brain). Also, the vast amount of bacteria in your large intestine (your microbiome, weighing in at about four pounds) gets thrown off by an unhealthful diet and starts to function against you. Rheumatoid arthritis, psoriasis, ulcerative colitis, and other autoimmune conditions have been linked to this intestinal dysbiosis.

• We’re exposed to environmental toxins we can’t clear fast enough. Normally, the liver handily clears all toxins, but in many people it’s simply overwhelmed. Toxins accumulate and are perceived by the immune system as the enemy. The level of altered oxygen molecules called free radicals rises, you can’t clear them, your blood tests might show signals of oxidative stress, and an autoimmune disease (or even a cancer) may be the consequence.

• Stress plays a major role in the development and perpetuation of any illness, but especially autoimmune conditions. Let’s face it, the past few years have been dreadful, with unremitting stress triggering chronic fight-or-flight responses in the adrenal glands (stressing or exhausting them) and punishing your immune system in the process. This month’s Atlantic Magazine has an article entitled “Bring Back the Nervous Breakdown,” reflecting on a once-common diagnosis from the 1930s, when it was okay to admit the world had become too much. Well, we’re not admitting it these days, and the rise in autoimmune disease may be one of the consequences.

Do it yourself

I do want to convey that the functional medicine approach we take when treating autoimmune disorders is similar to the steps you can take to prevent them.

If you were to arrive with, say, Hashimoto’s, rheumatoid arthritis, or any of the 100 others, we would teach you how to eat so you’re not worsening your condition, but rather repairing your gut and microbiome. We would measure your toxic load, detoxify the accumulated sludge, and jumpstart your liver. We’d also optimize your nutritional supplements and work with you on reducing stress (and thus repairing your adrenal glands).

If you don’t have a diagnosed autoimmune condition, be aware that an unhealthful lifestyle might be beckoning one to arrive. DIY healthcare is an exceptional idea when it comes to prevention. Re-read the four steps above and see what you can do on your own.

Our approach is to work with, not in place of, conventional treatments. As an internist, I will tell you that medicines like Humira, Enbrel, and Remicade are nothing short of miraculous. If you need them, use them. Our goal would be for your specialist to say “Looks like we can hold off for a while” or “Let’s lower your dose.”

If you need help with unexplained chronic symptoms or with your already-diagnosed autoimmune illness or you’re interested in a prevention program, contact our functional medicine staff. Rachel Gates, APN; Wendy Ploegstra, APN; Parisa Samsami, DC; and Caley Scott, ND, are here to help.

Be well,
David Edelberg, MD