Episode 150: Diagnosis Detective with Dr. William Mitchell

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Why Does It Take So Long to Get an Autoimmune Diagnosis?

There are over 100 different autoimmune diseases, and it takes an average of 4 years and 4 different doctors to get an accurate diagnosis. I know many of you have been through this, or are going through this right now. Let me introduce Dr. William Mitchell, whom I call the Diagnosis Detective. He’s a naturopathic doctor who works in rheumatology. One of his passions is helping people cut through the chaos surrounding autoimmune diagnosis.

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Show Notes

  • Intro (0:00)
  • Thank You To Our Podcast Sponsor – Luminance Skincare (2:08)
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  • Meet Dr. William Mitchell (3:40)
    • Dr. Mitchell is a naturopathic doctor with a primary interest in rheumatology. He believes in integrative medicine, working alongside conventional doctors to provide complementary, natural treatments, that support the patients’ health more fully.
    • His interest in functional medicine stemmed from his own health issues. As a child, he had a number of chronic symptoms that were never explained: skin, mood, digestive, fatigue, anemia, and Raynaud’s syndrome. His family didn’t believe in going to the doctor unless it was an emergency. Then, as a college student, he had a favorite professor who was also a chiropractor and introduced him to the idea of functional medicine. He decided to make that his career.
  • What Makes Autoimmune Diagnosis So Difficult? (7:52)
    • Symptoms are episodic rather than constant. They flare and subside and might not be active when you’re at the doctor’s office.
    • Symptoms are non-specific, meaning they occur with many different diseases.
    • Patients often look normal.
    • There’s no definitive test that points conclusively to a specific autoimmune disease. Instead, diagnosis is a combination of clinical exam, health history, imaging, and lab testing.
    • And while there is diagnostic criteria for each autoimmune disease, sometimes patients fall through the cracks if they don’t meet the criteria exactly.
  • The Benefits of a Diagnosis (13:01)
    • We can all use diet, lifestyle, mindset, and functional medicine to maximize our health. So, why is a diagnosis needed?
    • Different autoimmune diseases have different prognoses. In mild cases, conventional treatment may not be necessary. In moderate to severe cases, however, damage can happen to the body and a combined approach (of natural and conventional treatments) might be best. Knowing your prognoses helps you make an educated choice. Some autoimmune diseases can even be life-threatening, and that’s important to know.
    • Don’t fear the label of a diagnosis. A diagnosis doesn’t cause poor health; it explains it. It clears up unknowns and offers a clearer path forward. Knowledge is power.
  • Autoimmune Red Flags (18:15 & 35:45)
    • Before narrowing it down to a specific diagnosis, it can be helpful to know what symptoms indicate autoimmunity in general. Catching them early is a great time to intervene before damage is done.
    • When the immune system starts to misbehave, it activates inflammatory cytokines that can cause symptoms bodywide. These are called constitutional signs, and it’s a red flag when these symptoms last longer than 6 weeks: fevers, night sweats, fatigue, appetite loss, mood disturbances (depression/anxiety), joint pain/swelling, and morning stiffness that lasts longer than an hour.
    • At annual physicals, most primary care physicians run some basic bloodwork. Red flags in those results are: anemia, red blood cell abnormalities, high/low white blood cell count, elevated liver enzymes, high/low TSH, and low vitamin D (during chronic inflammation, the immune systems uses it for fuel). If the initial bloodwork shows abnormalities, the doctor might order another level of tests looking at inflammatory markers (ESR & CRP) and basic antibodies (ANA and RF).
    • Dr. Mitchell also sometimes uses a 2-week taper of prednisone as a diagnostic tool. If it reduces the symptoms, that often indicates autoimmunity.
    • There are over 100 autoimmune diseases, and we can’t discuss them all in one episode, but we’ll be looking at three broad categories of autoimmune disease: joints, digestive, and skin conditions.
  • Joint Pain & Autoimmune Disease (22:49)
    • There are many autoimmune diseases that directly attack the joints. These include rheumatoid arthritis, inflammatory seronegative arthritis, psoriatic arthritis, reactive arthritis, ankylosing spondylitis, and others. Sometimes lupus or Sjogren’s disease or connective tissue disorders can also involve the joints. And Hashimoto’s is a thyroid disease that sometimes has joint pain as a symptom. The same goes for Crohn’s disease and other diseases as well. And then, of course it’s possible to have joint pain and not have autoimmune disease (for example osteoarthritis or gout).
    • So, when it comes to diagnosis, how do you begin differentiating?
    • Step 1: Dr. Mitchell starts with the autoimmune red flags mentioned above, to determine if this is an inflammatory, mechanical, or metabolic issue. Age is also a strong indicator: if someone is experiencing joint pain at a young age with no accident or injury, it’s more likely to be inflammatory.
    • Step 2: The location, pattern, symmetry, and swelling of the joints can hint at one diagnosis vs. another. For example, pain in the knuckles closest to the fingernails usually indicates osteoarthritis or psoriatic arthritis. But pain in the middle and lower knuckles and wrists can indicate rheumatoid arthritis or lupus. Pain in the spine or pelvic girdle is more common with ankylosing spondylitis, seronegative inflammatory arthritis, and psoriatic arthritis.
    • Step 3: Look at the symptoms the patient is experiencing outside joint pain. If they have diarrhea or bloody stools, Crohn’s disease is a strong possibility. If there’s skin psoriasis along with joint pain, it’s more likely psoriatic arthritis. Dry eyes and dry mouth can indicate Sjogren’s disease. And eye involvement can indicate Crohn’s, ankylosing spondylitis, reactive arthritis, or psoriatic arthritis.
    • Step 4: Imaging – X-rays can show joint erosions and indicate how aggressive the disease process is. Muscoloskeletal ultrasounds are more sensitive and can catch inflammation earlier.
    • Step 4: Lab testing. Note – a health history is more important than bloodwork. Antibody tests can generate false positives, so a diagnosis should never be made on lab tests alone. They are one piece of the puzzle, not the whole puzzle. That said, a positive ANA is commonly connected to lupus (although many other things can cause a positive ANA). A positive rheumatoid factor and anti-CCP are connected with rheumatoid arthritis. A positive RNP is connected with mixed connective tissue disease. Positive TPO or TgAB are connected to Hashimoto’s. Positive ANCA and ASCA are connected to inflammatory bowel disease. Positive ANA, RF, and SS-A or SS-B antibodies can indicate Sjogren’s. HLA-B27 can indicate ankylosing spondylitis, psoriatic arthritis, reactive arthritis, or Crohn’s disease. And negative results on these tests can be a puzzle piece as well, helping to narrow down a diagnosis. The AVISE antibody panels by Exagen are used in his rheumatology office.
  • Thank You to Our Podcast Sponsor: Paleo on the Go (33:05)
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  • Digestive Issues & Autoimmune Disease (34:45)
    • Many people in the general population have digestive issues, and most autoimmune diseases co-exist with leaky gut and gut dysbiosis. That said, there are autoimmune diseases that attack the gut specifically, including Crohn’s disease, ulcerative colitis, and celiac disease.
    • IBS = Irritable Bowel Syndrome and is not autoimmune. IBD = Inflammatory Bowel Disease and is autoimmune. When it comes to diagnosis, how do you begin differentiating?
    • Step 1: Looking at autoimmune red flags already mentioned.
    • Step 2: Some symptoms are strongly indicative of Inflammatory Bowel Disease (like bloody stools).
    • Step 3: What symptoms is the patient experiencing outside of the GI tract? IBD is in the same family of autoimmune diseases as ankylosing spondylitis and psoriatic arthritis, which is why joint pain is a common co-symptom, usually involving larger joints. A skin rash on the shin sometimes occurs with IBD (called Erythema Nodosum). Eye problems and severe anemia can also be indicators of IBD.
    • Step 4: Lab testing – ASCA and ANCA antibodies indicate IBD, as does HLA-B27.
    • Step 5: Biopsies – these definitively diagnose IBD and celiac disease. The biopsy is done in the large intestine for IBD and small intestine for celiac. You need a referral to a gastroenterologist, but those are very uncomfortable procedures, so you want other indicators above before taking that step.
  • Skin & Autoimmune Disease (44:25)
    • We’ve already seen that skin symptoms can be present in autoimmune diseases that attack the joints and digestive tract. But there are also autoimmune diseases that attack the skin directly, such as scleroderma, psoriasis, vitiligo, lichen planus, lichen sclerosus, hidradenitis suppurativa, and more. And then of course it’s possible to have skin issues that aren’t autoimmune, like eczema or contact dermatitis.
    • When it comes to diagnosis, how do you begin differentiating?
    • Step 1: Look for the autoimmune red flags mentioned above.
    • Step 2: Look at the location, appearance, and pattern of skin symptoms. Many autoimmune skin conditions have common presentations that help with diagnosis. Psoriasis tends to appear in specific places (scalp, behind the ears, top gluteal cleft, elbows, knees, hands, and feet). Scleroderma involves a tightening of the skin. (Note: if this is happening on your torso rather than extremities, see a doctor quickly. It indicates a more severe version of the disease.) Vitiligo involves lightening of skin pigmentation. Etc.
    • Step 3: For more general skin rashes and reactions that don’t clearly indicate a specific diagnosis, consult with both a rheumatologist and a dermatologist. They can each do the testing that falls within their specialty. The rheumatologist can look at antibodies and inflammatory lab markers. Dermatologists can do skin biopsies and immunofluorescence.
  • When You Have More Than One Autoimmune Disease (48:30)
    • 25% of people with autoimmunity develop more than one autoimmune disease. This leads to a complex array of symptoms that can make diagnosis even more challenging, and misdiagnosis in the early stages more likely.
  • Functional Medicine & Being an Empowered Patient (40:00 & 51:07)
    • A key to autoimmune diagnosis is taking time with a patient to get their complete health history and asking about symptoms bodywide. Many conventional doctors don’t have time to do this. The medical system in the United States often gives physicians fifteen minutes per patient, and there’s also a growing shortage of rheumatologists. That’s one of the reasons functional medicine doctors can be so helpful in this process. Their clinical practice allows for longer patient appointments, and they view the body holistically.
    • However, there are things patients can do to help a doctor with diagnosis:
      • Keep a symptom diary.
      • Write a timeline of when different symptoms first appeared (and disappeared and reappeared if applicable).
      • Bring pictures of your body during a flare if any of your signs were visible. (This is especially helpful because you might not have visible symptoms at the time of your doctor appointment.)
      • Doing a little bit of internet research can be helpful, but be careful of getting lost in the sea of information.
      • It’s your personal experience that is the most valuable. No one knows your body better than you.
      • Don’t be dismissed. Don’t believe a doctor who tells you nothing’s wrong with you. Be persistent and keep seeking referrals until you find a doctor who can help.
      • Seek local support groups for people with autoimmune disease. Even if you are undiagnosed yourself, members can recommend rheumatologists they like.
      • Resources:
  • Outro (54:30)
    • Dr. William Mitchell works in an integrative rheumatology clinic in Scottsdale, AZ alongside a rheumatologist and nurse practitioner. He’s accepting new patients and can work with people both in-person and remotely.
    • Special Note: Many listeners have told me they’d like to leave a positive review in iTunes but don’t know how to do it. I finished today’s podcast with a step-by-step tutorial, and I’ve also included a written tutorial below. If you take a minute to do this, I would be very grateful!
    • Eileen (your podcast host) is the author of multiple books, written to help people thrive with autoimmune disease. Learn more on the Books Page.
    • If you like this podcast, follow or subscribe through your favorite podcast app. You can also subscribe to Eileen’s biweekly newsletter.
    • Check out the entire archive of podcast episodes.

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