Autoimmune Disease: The Importance of Family History
Chad Larson, NMD, DC, CCN, CSCS
In the past 2 weeks, I diagnosed a middle-aged male with celiac disease, and a teenage female with Hashimoto’s thyroiditis. Since their symptoms weren’t really textbook for those conditions, it was their positive family history for autoimmunity that led me down that path. Although current medical literature estimates that genetics only contribute about 30% of the risk for developing an autoimmune (AI) condition, it’s a good place to start.
Start with the Family
The National Institutes of Health estimates that more than 23.5 million Americans suffer from autoimmune diseases.1 Unfortunately, patients can suffer for 4-5 years before the proper diagnosis is made.2 If autoantibodies have already attacked 1 organ system, there is a significantly increased chance of your patient developing a concomitant autoimmune condition.3 As you explore your patient’s family history, do not get too caught up in which particular AI conditions are in the family history, rather just the fact that AI is within the family history – eg, the mom may have rheumatoid arthritis, and the aunt may have lupus, but your patient might have type 1 diabetes.
By diving into family history, you will be better equipped to diagnose and treat not only your patient, but also uncover some important information for their own children. We like to start out with the first-degree relatives (mom, dad, siblings), and branch out from there. Then be sure to include grandparents from both sides, and even aunts, uncles, nieces, and nephews. If any of the family members are deceased, identify the cause and age of their death. I also find it helpful to record current ages, medical conditions, and age at the time of the diagnosis. When there is a positive AI family history, have the patient compile the information and share it with their relatives so that they, too, can assess their chances of developing an autoimmune disease. Furthermore, recommend that the family members share the information with their doctors, so we can start to decrease this time lag before proper diagnosis and treatment.
At this point, we need high-quality and comprehensive lab testing to match up the subjective and objective information and confirm the diagnosis. There can be a lot of crossover of symptoms between all of the AI conditions, such as fatigue, gastrointestinal complaints, joint pain, rashes, and generally feeling unwell. There is the typical AI lab workup that we want to order, eg, CMP, CBC, CRP/ESR, and ANA, but we also want to move beyond the conventional markers and test for factors such as intestinal permeability; this is because, in my experience, a person with an AI condition has leaky gut until proven otherwise. And I hear what you’re thinking – you just assume they have it and treat accordingly. However, like we learned in school, we want to diagnose before we treat, and more importantly, leaky gut can be a major gateway to autoimmunity. So, we need to test, treat, and then retest to make sure the gut barrier is repaired.
It’s important in any workup for autoimmunity to evaluate gluten sensitivity. Research indicates that only 50% of individuals with celiac disease react to alpha-gliadin,4 which is the only gluten peptide that most labs test for. But what about other gliadin peptides, like gamma- or omega-gliadin? Many researchers are now suggesting that the only way to accurately diagnose celiac disease is to evaluate multiple gliadin peptides, not just alpha-gliadin.3 I personally like to use a lab that specializes in immune dysregulation and offers all of these gluten peptides; it also has an intestinal permeability test that seems a major step up from the lactulose-mannitol test. The earlier we can diagnose and initiate treatment for our AI patients, the faster we can help them into remission or at least manage their symptoms.
I don’t know about you, but I was initially somewhat reluctant to go down the autoimmune clinical pathway. But it just kept showing up in my practice, so I needed to keep getting educated on how to diagnose and treat it. I thought only rheumatologists treat AI conditions; however, I quickly learned that they are generally not interested in looking for the trigger(s) to the immune hyperactivity. This is an important clinical opportunity for us to help our patients in a way that our pharmaceutical counterparts are not. A comprehensive family history is a good start.
Chad Larson, NMD, DC, CCN, CSCS, holds a Doctor of Naturopathic Medicine degree from Southwest College of Naturopathic Medicine, and a Doctor of Chiropractic degree from Southern California University of Health Sciences. He is a certified clinical nutritionist, as well as a certified strength and conditioning specialist. He is also an independent expert consultant and advisor for Cyrex Labs. Dr Larson particularly pursues advanced developments in the fields of endocrinology, orthopedics, sports medicine, and environmentally-induced chronic disease.
- National Institute of Environmental Health Sciences. Autoimmune Diseases. November, 2012. NIH Web site. https://www.niehs.nih.gov/health/materials/autoimmune_diseases_508.pdf. Accessed September 1, 2015.
- American Autoimmune Related Diseases Association, Inc. AARDA Facts. Available at: http://www.aarda.org/about-aarda/aarda-facts/. Accessed September 1, 2015.
- Cojocaru M, Cojocaru IM, Silosi I. Multiple autoimmune syndrome. Maedica (Buchar). 2010;5(2):132-134.
- Vader W, Kooy Y, Van Veelen P, et al. The gluten response in children with celiac disease is directed toward multiple gliadin and glutenin peptides. Gastroenterology. 2002;122(7):1729-1737.