There is a pervasive myth in the medical world that hereditary hemochromatosis (HH)—i.e., iron overload in the blood—is a rare disorder. But this couldn’t be further from the truth: HH is the most common genetic disorder among Caucasians, and it can be found in all ethnicities.
For every patient diagnosed with hemochromatosis, 8–10 go undiagnosed.
So why does this myth of scarcity persist? Because correctly diagnosed HH among the patient population is, in fact, rare. The disturbing truth is that for every patient who is diagnosed with hemochromatosis, there are 8–10 who go undiagnosed.
Most people who suffer from HH, then, never know why they are experiencing symptoms—symptoms their doctors feel powerless to fix. But it doesn’t have to be like this.
Why Doctors Struggle to Diagnose Hereditary Hemochromatosis
Symptoms of hereditary hemochromatosis
One major issue when it comes to diagnosing HH is the wide range of possible symptoms. Hemochromatosis is a “clinical chameleon” that can and does differ vastly from one case to the next. To make matters worse, someone with HH may not notice symptoms until they reach their 40s or later.
Symptoms can include:
- Fatigue
- Hair loss
- Joint pain
- Sleep problems
- Heart arrhythmias
- Loss of muscle mass
- High blood pressure
- Hormonal problems
- Anxiety and depression
- Mitochondrial dysfunction
- Unexplained changes in weight
- Darkening or bronze-tinted skin
- Low sperm count and erectile dysfunction
- Pain in the knuckles of the index and middle fingers (called “iron fist”)
And a whole host more.
Hemochromatosis is a “clinical chameleon” that can and does differ vastly from one case to the next.
Because each HH patient has the possibility of experiencing a unique set of symptoms, narrowing down a list of medical issues that could be to blame is a tough task for a doctor who isn’t already thinking about HH as a possibility. It’s no wonder, then, that people often struggle for years, not getting diagnosed until they are in their 50s, 60s, or even 70s. And for the lucky few who are diagnosed, they usually experience symptoms for nine-and-a-half years and have to consult with at least three physicians before a correct diagnosis is made.
Bloodwork and labs
As if this complex labyrinth of symptoms weren’t difficult enough, many doctors run into trouble when ordering and interpreting labs, creating more obstacles for bewildered HH patients looking for relief.
The sad truth is, doctors can frequently miss or even blatantly ignore lab results. As functional medicine practitioners, it’s not uncommon to see a new patient bring in labs with a significant out-of-range result that the doctor who ordered the labs did not mention.
Doctors frequently miss or even blatantly ignore lab results.
Specifically with respect to HH, it could be high ferretin levels or elevated liver enzymes—both of which should be a red flag…but too often aren’t. (This also has to do with standard lab ranges that may not signal an issue until after a disease like HH has already manifested, making preventive action exceedingly hard.)
Sometimes doctors order incomplete labs that don’t include a ferritin or iron panel at all. In these cases, it’s no surprise that blood-iron overload goes undetected—it’s hard to find something you’re not even looking for!
Lack of genetic testing
This truism extends to the genetic component as well. Most doctors aren’t ordering genetic testing, either, even though HH is most often caused by a gene called HFE. And if they do, they don’t know how to properly interpret the results to create a meaningful treatment plan.
Most people with HH have just one hemochromatosis gene.
The “carrier myth” also plays a role in this lack of effective genetic testing. The conventional wisdom states that a person must inherit hemochromatosis genes from both their mother and father to develop HH; having only one gene simply makes them a carrier. This, however, is not true: most people with HH have just one hemochromatosis gene.
Long-Term Effects of Undiagnosed Hereditary Hemochromatosis
When it comes to addressing HH, the stakes are truly high. Overly high blood-iron levels can lead to a host of serious health issues that can affect every part of the body. An extremely partial list includes:
- Osteoporosis
- Type 3c diabetes
- Hearing or vision loss
- Gout and pseudogout
- Cognitive decline and brain fog
- Low thyroid function and Hashimoto’s
- Osteoarthritis and rheumatoid arthritis
- Liver, stomach, skin, and blood cancers
- Digestive problems, including leaky gut
- Alzheimer’s, Parkinson’s, and other neurodegenerative diseases
We owe it to our patients to gain a better understanding of how to diagnose and treat HH.
Taking all the facts together so far, the picture is clear: undiagnosed hereditary hemochromatosis is a big deal when it comes to patient health. As functional medicine practitioners, we owe it to our patients to gain a better understanding of how to diagnose and treat HH.
Diagnosing Hereditary Hemochromatosis in Your Patients
Thankfully, when you know what to look for, diagnosing HH is straightforward:
- The patient must have an iron saturation over 45 percent and high ferritin levels.
- The patient must have one or more copies of an altered HFE gene: either C282Y, H63D, or S65C.
As mentioned above, getting to this diagnosis effectively and efficiently means ordering the right tests and interpreting them in the right way. This makes it critical to look at not only the actual tests being run but also the actual numbers listed in the results—rather than just looking for something to be flagged.
When you know what to look for, diagnosing HH is straightforward.
For example, it’s important to know that most lab ranges allow iron saturation to go over 45 percent without being noted as an issue. “Standard” ferretin ranges can be misleading, too; anything over 100 nanograms per milliliter should cause concern.
Developing Holistic Hereditary Hemochromatosis Treatment Protocols
The conventional medicine approach
The standard conventional medicine treatment plan for HH involves three factors: blood removal, iron chelation therapy, and basic dietary advice.
And this is a good starting point. Blood removal is the fastest way to remove excess iron from the body—and with blood banks constantly in need, it helps not only the patient but the community.
Blood removal is the fastest way to remove excess iron from the body.
Iron chelators like deferoxamine, deferiprone, and deferasirox are increasingly commonly used to treat HH, although like any prescription drug, there are always potential side effects to be aware of.
Changes in diet also help regulate iron absorption. Eating more plants, for example, decreases the body’s iron absorption rate, while eating more meat increases the rate.
The functional medicine approach
But from a functional medicine perspective, we can—and should—do more. This means adding supplementation and lifestyle interventions to the foundation given to us by the conventional approach.
Curcumin, a powerful iron chelator and antioxidant, is essential to lower ferritin and decrease liver damage when treating HH. Quercetin, alpha lipoic acid, and calcium also work to reduce the body’s iron levels.
Managing stress, improving sleep habits, and quitting smoking can all lower iron levels.
And dietary and lifestyle choices like avoiding alcohol, sugar, and processed foods are key to managing iron levels and health in general. Managing stress, improving sleep habits, and quitting smoking can all lower iron levels, too, and should absolutely not be overlooked when treating HH—or any health condition, for that matter.
Dr. Christy Sutton Master Class – Understanding the Role of Iron Overload and Undiagnosed Anemias in Chronic Patients Who Cannot Recover
There is, of course, a lot more to effectively treating HH than can be conveyed in a single blog post. If you want to learn more about diagnosing and treating your HH patients, sign up for our newest Kharrazian Institute Master Class, Understanding the Role of Iron Overload and Undiagnosed Anemias in Chronic Patients Who Cannot Recover, taught by Dr. Christy Sutton.
This class is an essential tool for any functional medicine practitioner aiming for truly personalized and effective health plans.
Dr. Sutton’s comprehensive master class provides an in-depth exploration of iron metabolism and the wide spectrum of iron-related disorders. It highlights the commonly overlooked causes and presentations of iron overload, iron deficiency, and various forms of anemia—empowering you with the knowledge to diagnose and treat your patients more effectively.
This class is an essential tool for any functional medicine practitioner aiming for truly personalized and effective health plans. So if you’re ready to stop overlooking a key factor in your chronic patients’ inability to recover, register today!
