An article published January 17, 2017 on the medical website Medscape caught my attention regarding the potential consequences of prolonged iron overload. The article referenced a study entitled, “Association of Cerebrospinal Fluid Ferritin Level With Preclinical Cognitive Decline in APOE-ε4 Carriers“.
While the article did not refer to hemochromatosis, a significant part of the discussion was related to the long term effects of elevated Ferritin. For those of us with iron overload, we are well familiar with the consequences of having too much iron in our bodies, as I discussed in my article about lab testing for hemochromatosis.
Although an individual with hemochromatosis is well aware of elevated levels of iron (and how it potentially affects our liver, heart, joints, hormonal system, and brains) many doctors and medical researchers have not extensively studied excess iron.
The primary author of the study, Dr. Ashley Bush from the University of Melbourne, Australia, stated:
Iron in the brain is an underappreciated driver of disease progression. Measuring brain iron could be used to predict disease progression, and lowering brain iron levels might present as a novel therapeutic target to slow the disease progress.
Alzheimer’s is a terrible disease, and unfortunately it is becoming a more common condition. While most families have been touched by the ravages of Alzheimer’s (mine included), I am happy to hear that medical professionals are giving high iron its due attention as a potential underlying cause of this disease. I am hopeful that this new research may help people and families afflicted by Alzheimer’s.
Dr. Bush’s comments that measuring the ferritin level and taking steps to reduce excess iron should be a part of the treatment plan exactly mimics the steps taken in hemochromatosis. For individuals with iron overload who have reduced their ferritin levels and seen improvements in their health, this makes sense!
Another aspect of the study I found interesting was that ferritin was a better marker for disease progression than the (up until now) traditional markers for Alzheimer’s, Tau and Amyloid Beta. When a person’s cerbrospinal fluid level of ferritin was high, Dr. Bush stated:
(High ferritin) almost perfectly predicted whether the individual will experience cognitive decline in the subsequent 7 years. (The effect of ferritin) was far greater than the most established biomarkers — tau and amyloid β.
In hemochromatosis, awareness is essential. I am an advocate for improving outreach to those people who carry the genes for iron overload yet are unaware that their body is storing iron. While we can’t change our genetics, the earlier we address excess iron the better off our future health will be. Even though this study was investigating people with Alzheimer’s, I feel the conclusions may be applied to hemochromatosis.
Dr. Bush’s next study will test the iron chelating medicine, Deferiprone, to see if it is able to help slow the progression of Alzheimer’s. This medicine may sound familiar to individuals with hemochromatosis, as Deferiprone is a common iron chelating drug.
As a Naturopathic Doctor, I am struck by the similarities in the value of using ferritin in diagnosis as well as the value of taking steps to reduce iron overload between Alzheimer’s and hemochromatosis.
The next thought turned to several of the natural remedies I see helping hemochromatosis, namely Turmeric and Milk Thistle. Would these remedies, which I see greatly benefit iron overload, also help Alzheimer’s?
Why yes they do!
I was able to find several studies on PubMed (references below) showing that Turmeric and Milk Thistle both help improve health in Alzheimer’s. I never cease to be amazed how the antioxidant and anti-inflammatory effects of these natural remedies can help support health in a number of conditions, including hemochromatosis.
Primary study discussed in this article:
Pub Med Studies on Turmeric and Milk Thistle for Alzheimer’s
Milk Thistle and Hemochromatosis actually have a bit of a controversy, with mixed reviews and recommendations from doctors, which I will summarize below.
When I first started to learn about Hemochromatosis, the first website I stumbled upon is that of an Australian doctor, Chris Whittington, a medical doctor currently based out of British Columbia. Her mother and multiple family members were diagnosed with Hemochromatosis, and in fact her mother was one of the first people in the world to have the genetic test (in 1997). She has written a book called Ironic Health and had a great website with lots of scientific information about HH. (Note: her website is no longer on the web as of August 2018)
When I first read her site, her statement on Milk Thistle jumped out at me:
Don’t take milk thistle which has often been touted as good for the liver. It can cause severe problems in those with hemochromatosis. It is best to avoid herbal medicines with hemochromatosis as the joint effects have not been adequately studied. (reference at bottom of article)
I was sad to read this, as my training as an Naturopathic Doctor teaches Milk Thistle is one of the safest and most effective herbal remedies for promoting liver health in all of botanical medicine. But I accepted it at first because I have a great deal of respect for all of her other work.
A year or so later, I started to do more research on this particular topic, and what I found was eye opening.
Apparently, Dr. Whittington based this conclusion on a single case study of a woman with Hemochromatosis.
This 68 year old patient had elevated liver enzymes and a very elevated ferritin (2118), which ultimately led to the diagnosis of Hemochromatosis. This woman also was diagnosed with a number of other medical conditions, including Type 2 Diabetes, Asthma, Hypothyroidism, High Blood Pressure, and Fatty Liver. Also important to note, the patient was in the habit of using 2 Extra Strength Acetaminophen pills every 2 to 3 days and drank soda daily.
She was advised to undergo therapeutic phlebotomy to reduce her iron levels.
On her own, she had been taking 1 pill (200 mg) of Milk Thistle to address her liver function. Her doctor suggested she stop the Milk Thistle, which she declined to do.
After 4 phlebotomies, her ferritin had dropped from 2118 to 865. This was an exceptionally positive response, however her liver enzymes had actually increased. Once again, she was advised to discontinue the Milk Thistle.
At this point, the woman did stop her Milk Thistle… and simultaneously stopped both her Extra Strength Acetaminophen and her soda.
Four more phlebotomies later, her ferritin dropped even further down to 141 and her liver enzymes were normal again.
Dr. Whittington’s conclusion was:
This is the first description of a possible exacerbation of clinical and biochemical symptoms of C282Y homozygous hemochromatosis in a patient who ingested milk thistle for more than a year. Patients with C282Y homozygous hemochromatosis should be cautious about ingesting milk thistle in order to improve liver function, as it might have entirely the opposite effect. (Reference)
The net result from this published report is that individuals with Hemochromatosis were advised to stay away from Milk Thistle because it could possibly harm them and their liver function.
I personally avoided Milk Thistle for at least a year due to this advice.
However, over time, something just didn’t click for me. I had seen too many situations where Milk Thistle improved people’s health, so I decided to re-investigate the matter.
What first caught my attention was to find that this conclusion was based solely upon a single case study. This important information was not apparent until I researched the situation carefully. The problem is, in science, a conclusion should never be made (good or bad, for or against) upon a single case or one individual.
Secondly, I found the woman discontinued the Milk Thistle exactly at the same time as she quit her Extra Strength Acetaminophen (a known hepatotoxin) as well as her soda habit (also detrimental to liver function). This means that there were three separate variables that all might influence her liver function tests.
It just didn’t add up for me, so I investigated this controversy a bit more. Fairly quickly, I found several rebuttal articles written by Medical Doctors to the editors of the journal that had published the case study (Canadian Family Physician).
Dr. Robert Kidd, MD is a physician who treats chronic pain and frequently notes liver enzyme elevation from Acetaminophen. He wrote a very measured and insightful response:
As was clearly stated, the patient also stopped taking “2 extra-strength acetaminophen pills every 2 or 3 days” and “a can of cola every day.” The type of cola was not identified, but it seems likely in an obese patient that the cola would be a diet cola, with aspartame as the sweetener.
Two extra-strength acetaminophen pills (about 1 g) every 2 or 3 days would seem to be an innocuous dose, at least in a healthy individual. And, despite the early fears about aspartame’s hepatotoxicity, there is little strong evidence that it poses a serious risk, at least by itself. In certain individuals, however, toxicity can be experienced at “therapeutic” doses of acetaminophen of less than 4 g/day. And there is some evidence that aspartame can act synergistically with other food additives to produce neurotoxicity.
Because of the coincidental cessation of acetaminophen and (possibly) aspartame in this case, blaming the milk thistle might be premature. (Reference)
Dr. Warren Bell, MD, was more scathing to the Canadian Family Physician Journal. In his response to the cases’ conclusion, he focused upon pointing out the flaws of logic of the study:
I am astonished that you published the Case Report entitled “Exacerbation of hemochromatosis by ingestion of milk thistle.”
This brief report is actually not about milk thistle at all; it is about the devastating effects of untreated hemochromatosis. In this tale, the ingestion of milk thistle simply amounts to an inconsequential sidebar.
The author notes that her patient’s liver function tests normalized after stopping the milk thistle preparation, coincident with stopping the “moderate amounts of acetaminophen” she was ingesting. Acetaminophen is a known hepatotoxin; I have treated a number of patients in our emergency room for acetaminophen overdose, and our first concern is always hepatic damage.
Moreover, I have had patients on recommended doses of acetaminophen (4 g or less daily) who have shown signs of hepatotoxicity. In someone whose liver is already significantly damaged, the presumption that withdrawal of a known hepatotoxin is irrelevant, whereas the cessation of a known hepatoprotective substance is pivotal, stretches credulity beyond the breaking point.
The biggest problem I have with this article is that it will now go into the melting pot of PubMed citations. There, authors who have an ideological problem with herbal remedies will find it and cite it (unwittingly or otherwise) as “evidence” of yet another “bad” effect of a plant remedy. It might even be used as an excuse by some regulatory agency to ban the use of milk thistle entirely, thus removing one of the few hepatoprotective substances now available to clinicians from the therapeutic stage. (Reference)
I have never seen rebuttal from Dr. Whittington. I have a great respect for Dr. Whittington and appreciate all the great work she has done with Hemochromatosis patients and her excellent book.
However, I respectfully have come to a different conclusion than she has regarding the use of Milk Thistle in Hemochromatosis patients.
Allow me to discuss why in the following article…
Note: quotes from this article came from the following article on Dr. Whittington’s now former website, which is no longer on the web as of August 2018:
Oxidation is a fundamental problem of iron overload and is a major reason why individuals with Hemochromatosis develop worsening health concerns over time.
As a person stores more and more iron in their body, one progressive consequence of iron overload is a chronic state known as “oxidative stress”. In this state, excess iron creates oxidation which can stress both the structure and the function of the cells of our bodies.
The most vulnerable tissues in the body to oxidative stress include the liver, heart, pancreas, hormonal glands, and joints. Not surprisingly, these cells are among the most frequently damaged by Hemochromatosis.
If Hemochromatosis has yet to be diagnosed, or if it has been left untreated or under-treated, a person’s oxidative stress progressively gets worse. Oxidative damage can become bad enough to be irreversible, so it is critical to identify and treat the problem as soon as possible.
When our bodies have too much iron, our natural antioxidant systems in our bodies just can’t quite keep up with their jobs and the long-term result is damage to our DNA and cells.
Oxidation is a difficult concept to understand, I will admit, so please allow me to walk you through this idea. We hear the term “antioxidant” all the time in relationship to our health. Generally speaking, most people agree we need to get antioxidant support either through our diet or by supplementation. But what does this really mean and why is it so important?
Simply stated, oxidation is the process when oxygen combines with an element, changing the appearance of the element.
Everyday examples include the browning of apples, bananas, or avocados once they are opened up and exposed to air. You can see the physical properties of these fruits change right before your eyes.
To get a little more technical, oxidation is defined as any chemical reaction in which a material gives up electrons, as when the material combines with oxygen.
Oxidation can be rapid, as when we burn a piece of wood for a fire, or it can be slow, as seen in the rusting of an old car or fence post.
While the human body is a bit different than say, a penny that has become green over time, our bodies are subjected to physical change and deterioration from oxidation. In particular, excess iron causes a great deal of oxidation, right down to the level of the cells of our body.
Over time, this oxidative stress can contribute to a number of problems, including:
Antioxidants are important to combat this problem of oxidation. Fortunately, clinical research has demonstrated the value and health benefits of specific antioxidants for Hemochromatosis!
Key antioxidant nutrients that are beneficial for neutralizing free radicals in iron overload include:
Incorporating these nutrients and supplements into your routine can go a long way toward helping address oxidative damage and support your health.
If you are searching for natural remedies to support, strengthen, and restore your health from iron overload or if you are looking for a more holistic approach to compliment your overall hemochromatosis care plan, then you are in the right place! Hemochromatosis Help is proud to offer safe, effective, and unique supplements for individuals with hemochromatosis.
Our supplements are for sale and available for shipping both in the USA and Internationally. You can learn more here: www.MyHemochromatosisHelp.com
Hereditary hemochromatosis causes a progressive loading of iron over time. For individuals with the most severe cases of iron overload, they can suffer from permanent damage like scarring or cirrhosis of the liver which can, in turn, lead to liver cancer.
Therapies such as therapeutic phlebotomy and medication can have profound healing effects. We just have to catch it as early as possible, so we can take all the steps necessary to prevent the buildup of too much iron. In certain situations, the prognosis can be dire. Iron overload can progress to the point where symptoms and damage is irreversible. As a result, it is crucial to identify and diagnose hemochromatosis early.
Be sure to talk with your doctor and your family to make sure you all have the proper diagnosis of hemochromatosis.
The good news is that there are excellent treatments for hemochromatosis that, if started early enough, are highly successful in controlling the condition of too much iron and potentially highly successful in reversing symptoms and improving overall health.
Conventionally, the primary therapy is phlebotomy, venesection or blood donation. This is absolutely the best way to “de-iron” an individual.
Medicines are available for those who are not able to tolerate phlebotomy.
The great news is that there are MANY other recommendations that can be helpful in addition to the medical treatments. This is where Hemochromatosis Help can support you!
In fact, clinical research has shown many potential health benefits of natural and holistic remedies for iron overload.
With that in mind, let’s really get to know how to holistically help hemochromatosis.
My name is Eric Lewis, and I am a Naturopathic Doctor. Like you, I also have a genetic predisposition to iron overload.
My approach to hemochromatosis is holistic, integrative, and hopefully fun!
My goal is to integrate the best ideas of science with the art of holistic healing.
My wife Kristina and I are both Naturopathic Doctors, and we share a holistic mindset when it comes to health and well-being.
In our practice, we work with all of our patients to help them understand their condition and to feel better naturally. We hear people’s stories… their successes, their failures, and their questions and struggles.
As a husband and a father with hemochromatosis, I want to know as much as I can about the subject so I can live a long, healthy, and happy life. I’m certainly trying my best to walk the walk!
When I discovered I had hereditary hemochromatosis and founded this website, Kristina also became very involved in researching, writing, and teaching about this condition both as a health-care practitioner and as a concerned wife.
Our goal with this site is to assimilate, synthesize, and deliver the best information about diet and supplementation strategies for iron overload to you in a clear, easy-to-understand, and friendly way.
Hemochromatosis can be scary, lonely, and intimidating. As a Naturopathic Doctor with a predisposition for the condition of iron overload, my aim is to help you learn the safest and most effective diet and supplement strategies to help support your health.
I’ve realized there is a lack of clear information out there to help empower people with iron overload to take charge and to learn how to live a healthier life with hemochromatosis.
In addition to this website, Dr. Kristina and I have also created the following resources to help you, starting right now:
1. The Hemochromatosis Help Newsletter – 20+ in-depth & empowering articles with actionable tips that will help assist you on your journey with hemochromatosis.
2. Holistic Help for Hemochromatosis Book (by Dr. Eric) – A complete guide to the use of diet and supplements in healing from iron overload. Available as a paperback and also as an instant-download e-book.
3. Cooking for Hemochromatosis Cookbook (by Dr. Kristina) – With over 100 delicious low-iron recipes, Cooking for Hemochromatosis is a comprehensive guidebook to help you plan, shop, and cook to reduce iron in your diet. Much more than just a cookbook, it will teach you how to decide what to eat, plan meals, and enjoy food again when facing iron overload.
4. MyHemochromatosisHelp.com – Online store offering safe, effective, and unique supplements specifically designed to support the health of individuals with hemochromatosis.
A diagnosis of hemochromatosis may happen in several steps. Even though iron overload is a very common genetic disorder, many people go years or decades before they find out they have it.
Many doctors may not consider hemochromatosis in their diagnosis because they are thinking about other conditions that may have a similar presentation, such as arthritis, menopause, or general fatigue caused by any number of “normal” reasons. It is essential, however, that they be thorough and include iron overload in their differential diagnosis thought process.
Furthermore, the signs and symptoms of iron overload are often different for women and men. This may affect diagnosis because a doctor will have to account for the different ways a man or a woman may experience hemochromatosis.
Even though there are a number of individual and gender differences in iron overload, doctors can still come to a diagnosis of hemochromatosis based on a number of tests.
There is a progression of testing when it comes to diagnosing iron overload. When it comes to blood tests, some markers that represent the level of iron in the body fluctuate relatively quickly (for example, serum iron). A one time test of slightly elevated serum iron is not enough to diagnose hemochromatosis, as there are other reasons that might cause iron levels to be elevated, such as inflammation or infection.
To be thorough, your doctor may evaluate a number of factors if he or she suspects iron overload. It is important to not jump to any conclusions on the path to diagnosis. The Mayo Clinic summarizes this well:
Hereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis.
Many people with the disease don’t have any signs or symptoms other than elevated levels of iron in their blood. Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.
This graph illustrates just how varied symptoms can present prior to diagnosing hemochromatosis:
To understand the progression of diagnosis, let’s start first with blood tests.
The two most important tests to begin with in potentially diagnosing iron overload are transferrin saturation and ferritin. Some doctors prefer to do these tests separately from one another, and some doctors like to do these tests together, so your experience will likely depend on your physician’s preferences for blood testing.
Here is a good description of the basics of these two tests from the Mayo Clinic:
Serum transferrin saturation. This test measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45 percent are considered too high.
Serum ferritin. This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.
Regarding ferritin, I will add to the Mayo Clinic’s description that elevated ferritin levels reflect stored iron in a number of organs, like the spleen, bone marrow, brain, joints, etc., not just the liver. While ferritin levels are frequently highest in the liver, ferritin is certainly not limited to only the liver.
Personally, I think of ferritin as representing the body’s cellular burden of iron. This is the most straightforward way to characterize iron inside our cells.
Another consideration is that a number of other conditions besides hemochromatosis can cause an elevated ferritin level. Inflammation, infection, and liver disease are other common reasons that ferritin levels rise. Your physician will understand this, and should take it into account when diagnosing you.
While transferrin saturation may also be increased for reasons outside of hemochromatosis (again due to issues such as inflammation, infection, and liver disease), this marker is often the first clue of iron overload. According to Dr. Andrea Duchini, MD:
High transferrin saturation is the earliest evidence of hemochromatosis; a value greater than 60% in men and 50% in women is highly specific.
Diagnosing hemochromatosis can be difficult! Awareness and early diagnosis are essential. For example, Dr. Duchini expresses how challenging it can be:
Approximately 30% of women younger than 30 years who have hemochromatosis do not have elevated transferrin saturation.
Women in their early 20s have written to me about their stories, and a common theme is that they went years without proper diagnosis in spite of having symptoms of hemochromatosis. Being young may have something to do with this, but I’ve also seen how there are many misconceptions of how hemochromatosis affects women differently than men.
From a lab testing perspective, however, there are different standards (that do make sense) for men and women. Dr. Duchini again:
Serum ferritin levels elevated higher than 200 mcg/L in premenopausal women and 300 mcg/L in men and postmenopausal women indicate primary iron overload due to hemochromatosis, especially when associated with high transferrin saturation and evidence of liver disease.
If transferrin saturation and/or ferritin are elevated, the next step in hemochromatosis diagnosis is often genetic testing.
Genetic testing often entails another blood draw, although some lab companies offer a test that involves swabbing the inside of your mouth to collect cells to test. Both tests are evaluating the DNA for possible changes of the HFE gene, specifically for the C282Y, H63D, and S65C alleles.
Once a physician has evaluated a person’s signs and symptoms, his or her transferrin saturation and ferritin levels, and the genetic test, a diagnosis of hemochromatosis may be made.
Because hemochromatosis is hereditary, the question next turns to the family members.
Should any other blood relative family members be checked? What about children?
Again Dr. Duchini explains:
Family members identified as having C282Y homozygosity should be tested for transferrin saturation, serum ferritin, and liver enzymes; screening of young children of patients with hemochromatosis does not need to be performed if the spouse is tested and does not have the C282Y mutation.
Early awareness is essential. The sooner a person with iron overload can be diagnosed, the better.
Treatments are abundant, and outcomes are better when started earlier.
As a result, consult with your doctor and please tell your family about hemochromatosis!