Many people have asked me if Hashimoto’s is genetic, and if so, is there anything we can do about our genes?
We know that there is a genetic component to developing Hashimoto’s and the condition tends to run in families.
Hashimoto’s thyroiditis can occur in two varieties:
1) an organ wasting form (atrophic) associated with HLA-DR3 gene inheritance
2) enlarged thyroid (goiterous form) through HLA-DR5 inheritance
These genes are common in the Caucasian population.
Relatives of those with Hashimoto’s are at risk. So, if you have been diagnosed with Hashimoto’s, there’s a chance that a loved one like your mom, sister, daughter or aunt may be at risk for Hashimoto’s as well.
Think about women in your life that struggle with weight gain, anxiety, fatigue, depression, infertility, or hair loss. Cold intolerance is also a big giveaway… You may want to encourage them to get tested for Hashimoto's.
While Hashimoto’s is much more common in women, 7 women are affected for every one man; men too, can be affected. Having a male relative with Hashimoto’s increases the likelihood of being diagnosed, so if you are a man with Hashimoto's, please note that your children may be at greater risk.
Symptoms are similar in men, but some men may also experience unique symptoms like low sex drive, poor facial hair growth and loss of muscle tone.
Thyroid ultrasounds and blood tests are used to diagnose Hashimoto’s. Laboratory tests are available to check thyroid function and autoimmune thyroid markers. Often times, relatives of people with Hashimoto's will have thyroid symptoms, and will ask their doctors to be tested, but will be told that their thyroid function is normal. Unfortunately, this is because many times, doctors only order the screening test for thyroid disease, NOT the test for Hashimoto's.
TSH is used as a screening test for thyroid function, but this test does not always catch thyroid abnormalities. TSH does not become permanently elevated until Hashimoto’s is advanced.
Thus, people may have a normal TSH for years while experiencing unpleasant thyroid symptoms. They will present to their physicians with complaints of weight gain, fatigue, and other symptoms and will be told their thyroid tests are normal. TSH levels can fluctuate throughout the day, however, and the body often compensates by shifting energy away from metabolism and other body functions.
Untreated hypothyroidism eventually results in an abnormally elevated TSH. In contrast, untreated hyperthyroidism results in an abnormally low TSH. A person with Hashimoto’s may fluctuate between the two extremes and at time have “normal” readings.
Additionally, when scientists first set the “normal” ranges of TSH for healthy individuals, they inadvertently included elderly patients and others with compromised thyroid function in the calculations, leading to an overly lax reference range. Thus people with underactive thyroid hormones were often told their thyroid tests were “normal” based on this skewed reference range!
In recent years, the National Academy of Clinical Biochemists indicated 95 percent of individuals without thyroid disease have TSH concentrations below 2.5 μIU/L, and a new normal reference range was defined by the American College of Clinical Endocrinologists to be between 0.3 and 3.0 μIU/ml.
Unfortunately, most labs have not yet adjusted that range in the reports they provide to physicians, listing ranges as lax as 0.2–8.0 μIU/ml. Most physicians only look for values outside the “normal” reference range provided by the labs and may be unfamiliar with the new guidelines. Subsequently, many physicians miss identifying patients with an elevated TSH. This is one reason why patients should always ask their physicians for a copy of any lab results.
Functional medicine practitioners have further defined normal reference ranges as being between 1 and 2 μIU/ml for a healthy person not taking thyroid medications.
It’s important to remember that reference ranges may not be applicable to everyone. What is normal for one person may be abnormal for the next. Reference ranges take into account the average values of 95 percent of the population. Not everyone falls within the “normal” reference range. If you are in the 5 percent who doesn’t, you may experience symptoms of hypothyroidism or hyperthyroidism even though you have TSH values considered normal. All doctors are taught the old adage, “Treat the patient and not the lab tests,” but sadly few conventional doctors seem to follow this advice.
I was told that my thyroid was "normal" when my TSH was 5.5, and I was sleeping for 12 hours each night, sleeping under two blankets, and losing hair by the handfuls!! I was not tested for Hashimoto's.
Even with all of the redefined normal ranges, TSH screening only catches the late stage of Hashimoto’s since the body is still able to compensate in the beginning stages of thyroid dysfunction.
The THEA score is used to help estimate the risk of developing hypothyroidism within five years in people who have TPO antibodies and relatives of those with thyroid diseases. Note: Higher antibodies are associated with a greater risk of developing hypothyroidism.
Test for Hashimoto's
The best tests for Hashimoto's are thyroid antibody tests. These are blood tests that look for an autoimmune response to the thyroid gland. The two antibody tests that are going to be elevated in Hashimoto's are
1) Thyroid Peroxidase Antibodies (TPO antibodies)= present in >90% of people with Hashimoto's
2) Thyroglobulin antibodies (TG antibodies)= present in >80% of people with Hashimoto's
These tests may be elevated for decades in some people before a change in TSH is seen. While a small number of antibodies may be present in normal individuals without thyroid disease, elevated thyroid antibodies indicate that the immune system has targeted the thyroid gland for destruction. The greater the number of antibodies, the more aggressive the attack on the thyroid gland.
Scientists have developed the THEA Score (Thyroid Events Amsterdam Score) to help relatives of people with Hashimoto's to assess their risk for developing hypothyroidism in the next few years.
You can view this assessment HERE.
**A person may be positive for one or both of these antibodies, but up to 10% of people with Hashimoto's may not test positive for antibodies. In this case, a thyroid ultrasound can be done, to determine if there are changes consistent with Hashimoto's on the thyroid gland.
Why Test for Hashimoto's?
Traditional doctors may not always test for Hashimoto's unless there is an elevation in TSH, as there was not much information on what could be done about the autoimmune process, and consensus was that there was nothing that could be done for a person with thyroid antibodies who did not have an elevated TSH.
However researchers are now showing that thyroid antibodies, in themselves can lead to symptoms like anxiety, fatigue and a general feeling of "unwell".
Of course knowing that you are at risk for developing a condition can be helpful for planning ahead if there's nothing you can do to change our risk factors, but luckily, our genes are NOT our destiny!
Recent advances in autoimmune disease have determined that three things need to be present for autoimmunity to develop:
1) The genetic predisposition
2) Triggers that "turn-on" the genes
3) Intestinal permeability
All three of these need to be present in order to develop an autoimmune condition. Obviously we can't change our genes, but we can address our triggers and the intestinal permeability! Current research shows that environmental triggers turn on our gene expression, so genes are not our destiny! What's even more exciting is that we can "turn-off" gene expression by eliminating triggers and intestinal permeability.
Ideally, we would want to catch thyroid antibodies before a significant amount of thyroid tissue has damaged. This way we can look for the root cause of the autoimmune attack, and slow down, reduce and even eliminate the autoimmune attack on the thyroid!!
Identifying our triggers can help to slow down and in some cases halt the autoimmune destruction of the thyroid gland. This may prevent many years of feeling unwell, having to depend on a thyroid medications or developing additional autoimmune conditions.
While some people have been able to regenerate thyroid tissue and wean themselves off thyroid medications, the rates at which tissue regeneration happens are not always predictable, and of course it's much easier to prevent damage than it is to repair it.
Having one autoimmune condition puts us at risk for having additional ones, so addressing the root cause of Hashimoto's can help prevent the development of other autoimmune conditions. Reducing thyroid antibody triggers can potentially prevent thyroid cancer as well... some studies have shown that Thyroglobulin antibodies may be related to an increased risk of thyroid cancer.
You can have your physician order the tests for you, or order them on your own HERE.
Genes are not always our destiny…
Well-established environmental triggers for developing Hashimoto’s in those who are genetically predisposed include excessive iodine intake, bacterial and viral infections, hormonal imbalances, toxins, and therapy with certain types of medications. Cigarette smoking, surprisingly, has been associated with a reduced risk of Hashimoto’s and may somewhat delay or suppress the development of the condition.
In people with Hashimoto’s, only 50 percent of their identical twins presented with thyroid antibodies, meaning genes alone are not the single defining factor and environmental triggers play a critical role.
Family Case Studies in Autoimmune Remission
In recent years, scientists have began to focus on environmental triggers for autoimmune disease. One interesting study looked at a family who was affected with Crohn's, an autoimmune condition that causes inflammation of the digestive tract. They were able to identify a bacteria, Mycobacterium avium subspecies paratuberculosis (MAP), that was present in all of the affected family members. This bacteria has been found to cause John's disease, (with similar symptoms to Crohn's in cattle), and can be passed to us through the consumption of milk (even pasteurized milk). Multiple studies have found that treating this bacteria resulted in remission of Crohn's disease...
Bacterial agents that have beed identified in triggering Hashimoto's include: Yersinia enterocolitica, Mycobacterium avium subspecies paratuberculosis (MAP), and H. Pylori. All three bacteria have also been implicated in Graves’ disease, another autoimmune thyroid condition that causes hyperthyroidism (an overactive thyroid). Interestingly, two medications used to treat Graves’ disease—thiourea and methimazole—have shown antibacterial activity against MAP .
Tests for Yersinia and H Pylori are readily available, and I've received multiple remission stories from individuals who tested positive for, and then were treated for the above mentioned infections. MAP tests are available for animals, tests more specific to humans are not available commercially at the moment, but should become available in coming years.
I received an email from one family that was affected with autoimmune disease. The members of the family all turned out to be gluten sensitive (both mom and dad had the genes for celiac disease). Interestingly, removing gluten helped different members of the family with different things (Hashimoto's, rheumatoid arthritis and lupus).
Yet another family began to have symptoms of autoimmune disease after moving into a house with mold.
Mold can be a powerful trigger for many autoimmune conditions, including autoimmune thyroid disease, leading to hypothyroidism or hyperthyroidism. In this particular family, the mother developed asthma and Hashimoto's, the daughter developed Hashimoto's, the son developed allergies, while the father developed rashes.
It's important to note that not everyone in the family may be affected at the same rate, and different individuals may not respond to triggers in the same way. Gluten sensitivity may be the main trigger for some people, but for others it is a secondary manifestation of a different root cause, such as a gut infection that makes digestion more difficult. That said, I always recommend starting with food to eliminate
If you'd like to have more information on how to figure out your Hashimoto's triggers, you may find my book; Hashimoto's Thyroiditis: Lifestyle Interventions for Finding and Treating the Root Cause to be helpful in your journey.
I hope that you found this information helpful in your (and your family's) journey!
Your Thyroid Pharmacist,
Izabella Wentz, PharmD, FASCP
Izabella Wentz, Pharm.D., FASCP is a passionate, innovative and solution focused clinical pharmacist. She has had a passion for health care from a very early age, inspired by her mother, Dr. Marta Nowosadzka, MD.
Fascinated by science and the impact of substances on the human body, Izabella decided to pursue a degree in pharmacy with a dream of one day finding a cure for a disease. An avid learner and goal-oriented student, she received the PharmD. Degree (Doctor of Pharmacy) from the Midwestern University Chicago College of Pharmacy at the age of 23.
After graduation, she excelled at numerous roles including working as a community pharmacist, a clinical consulting pharmacist and later a medication safety pharmacist. She is a Fellow of the American Society of Consultant Pharmacists, and holds certifications in Medication Therapy Management as well as Advanced Diabetes Care.
During her time as a consultant pharmacist, Dr. Wentz worked as part of an interdisciplinary team consulting on thousands of complicated patient cases, often caused by rare disorders. She was regarded as an expert in clinical pharmacology and would be called to investigate cause and effect by performing comprehensive medication therapy reviews to help identify and resolve adverse drug events. She quickly became well versed in finding and evaluating emerging research to help address her clients’ unique challenges. Although trained as a pharmacist, she was an ardent champion for lifestyle interventions, which often helped patients much more than any medications.
After moving to a new city, she was given the opportunity to lead a statewide medication safety initiative, transitioning to a career in medication safety and healthcare quality improvement. There, she developed an expertise about the whole systems approach, rapid tests of small change; outcomes tracking and root cause analysis.
After being diagnosed with Hashimoto’s Thyroiditis in 2009, Dr. Wentz was surprised at the lack of knowledge about lifestyle interventions for Hashimoto’s, hypothyroidism, and autoimmune conditions. She decided to take on lifestyle interventions as a personal mission in an effort to help herself and others with Hashimoto's.
After two years of researching Hashimoto's and Hypothyroidism, she decided to combine emerging knowledge with her quality improvement expertise to run rapid tests of change on herself that led her to discover the root cause of her condition. She has summarized three years of research and two years of testing in her book: Hashimoto’s Thyroiditis: Lifestyle Interventions for Finding and Treating the Root Cause.