Imagine always feeling tired, as though you're carrying a heavy load that no one else can see. That's what life can feel like for someone with hemochromatosis, a genetic condition in which the body stores too much iron.
Hemochromatosis is one of the most common genetic conditions in the United States, affecting approximately 1 in every 300 individuals of Northern European descent. Despite its prevalence, hemochromatosis is often overlooked or misdiagnosed because the symptoms are nonspecific and often develop gradually.
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What is Hemochromatosis?
Hemochromatosis is a genetic condition in which the body stores too much iron. Physiologically, our bodies tightly regulate iron levels. However, this regulation mechanism is disrupted in individuals with hemochromatosis, leading to iron buildup over time.
Imagine a sponge that absorbs too much water. Just like a sponge can become oversaturated and unable to absorb more water, the body in an individual with hemochromatosis absorbs too much iron, leading to an overload. Unlike a saturated sponge that can be wrung out, there is no physiologic mechanism for the excretion of excess iron from the body other than blood loss.
Iron creates free radicals, or unstable molecules, during oxidation. These free radicals wreak havoc on our body’s cells through oxidative stress. An everyday example of oxidation is the browning of an avocado once it is cut open and exposed to air. When there are too many free radicals produced in the body, damage can develop over time to various organs and tissues. For a person with this iron overload condition, more iron leads to more free radical production and the potential for future organ damage.
Genetics and Understanding Iron Overload
Based on the root cause, hemochromatosis can be classified into either:
Hereditary Hemochromatosis:
This is the inherited autosomal recessive form caused by mutations within the HFE gene. For it to develop, two copies of the mutated gene (one from each parent) must be inherited. C282Y and H63D are the most common gene mutations.
Secondary Hemochromatosis:
This often occurs due to other medical conditions, such as chronic liver disease, or other influences, such as excessive iron supplementation or iron in water. Once the outside source is identified, an individual’s iron levels typically return to optimal range.
Signs & Symptoms of Hemochromatosis
Symptoms of hemochromatosis can range from mild to severe. In the early stages of this condition, a person may be asymptomatic.
The most common symptoms of hemochromatosis are:
- Fatigue
- Joint pain, especially in the hands and knuckles
- Abdominal pain, particularly in the area of the liver
- Irregular heartbeat or palpitations
- Low libido
- Menstrual problems – irregular periods or missed periods
- Brain fog, Mood swings, Depression, Anxiety
Long-term effects of untreated iron accumulation can lead to the following:
- Liver Cirrhosis and Liver Cancer
- Organ Damage
- Insulin Resistance and Diabetes: accumulation of iron in the pancreas can interfere with insulin production
- Bronze Diabetes: Iron in the skin, along with melanin, can darken the skin
- Arthritis
Hemochromatosis affects males and females differently. Women are more likely to develop symptoms later in life due to the fact that women release iron through menstruation and childbirth.
How to Diagnose Hemochromatosis
Hemochromatosis is diagnosed through medical history, physical examination, and laboratory tests. Early detection through screening can lead to early intervention and better outcomes.
Here's an overview of the diagnostic process:
Step 1:
Medical History and Physical Exam: Ask your patients about their symptoms, medical history, and family history of hemochromatosis. Screening for hemochromatosis is recommended for individuals with a family history of the condition. During the physical exam, look for signs of hemochromatosis, such as skin discoloration or enlargement of the liver, which would warrant further investigation.
Step 2:
Two blood tests are recommended to determine the amount of excess iron in the body:
- Serum transferrin saturation: This test measures the amount of iron bound to a protein called transferrin that carries iron within your blood. Transferrin saturation values greater than 45% are considered high.
- Serum ferritin: This test measures the amount of iron stored in your liver. Ferritin levels above 300 ng/mL in biological males or above 200 ng/mL in biological females are considered high.
Serum iron, Unsaturated/Unbound Iron-Binding Capacity (UIBC), and Total Iron-Binding Capacity (TIBC) can all be assessed by Access Medical Labs or Mosaic Diagnostics.
Additionally, these blood tests may also be ordered to check for liver function:
- AST and ALT: both may be elevated if there is damage to the liver
- AST: Access Medical Labs
- ALT: Access Medical Labs
- Cholesterol, Triglycerides, Blood Sugar: these metabolic markers can increase for many reasons, including decreased liver function
Step 3:
Genetic testing, such as DNA Health, will identify mutations in the HFE gene. This helps to confirm a diagnosis in individuals with a family history of hemochromatosis or to identify carriers of the genetic mutations.
Step 4:
If tissue damage is suspected, imaging studies such as ultrasound, MRI, or CT scan may be ordered to evaluate the liver or other organs. While a Liver Biopsy remains the gold standard diagnostic test for hemochromatosis, it is less commonly used compared to lab and genetic testing due to its invasive nature.
Healthy Living Strategies & Treatment
To provide your patients with a comprehensive treatment plan, keep these three strategies in mind:
- Reduce current iron levels in the body
- Manage future iron absorption in the body
- Protect the body from free radical damage
Reduce Current Iron Levels in the Body
Treatment typically involves phlebotomy, or blood removal, to reduce iron levels in the body. This is similar to donating blood at a blood drive. However, it is typically done more frequently, depending on the individual’s condition. As a physician, you may order Iron Chelation Therapy if phlebotomy is not tolerated, as in heart conditions. The prescribed medications work to bind or ‘chelate’ the excess iron in your body, thereby removing it through urine or stool.
Specific supplements have been found to grab onto iron and help your body flush it out.
These include a recommended daily dose of 500 mg:
Manage Future Iron Absorption
Dietary and lifestyle shifts can help reduce iron absorption and help manage iron levels. These include:
- Reduce iron-rich foods such as red meat, liver, and iron-fortified foods.
- Avoid iron supplements.
- Avoid/reduce excessive intake of vitamin C or alcohol, as both can increase iron absorption in the body.
- Avoid raw or undercooked seafood, especially oysters; they are a primary source of Vibrio vulnificus, a bacterium that thrives in high-iron environments, and can cause severe illness and, in rare cases, fatality.
- Avoid cooking food in cast iron cookware, as this can increase the iron content of your food.
Supplementation and food sources can help block iron absorption, as well as protect against free radical damage that can occur from iron overload.
These include:
- Calcium: Consume foods rich in calcium, especially when eating a meal rich in heme iron. These include dairy products, kale, broccoli, bok choy and sardines. Calcium citrate, at a dosage of 600 mg, is most beneficial when taken at the same time as an iron-rich meal.
- Polyphenols and Tannins: Drinking a cup of coffee or tea with a meal.
- Phytates: Including food sources such as whole wheat, oats, beans, and nuts with a heme-iron meal.
Protect the Body From Free Radical Damage
Antioxidants can reduce the oxidative stress that can occur from storing excess iron.
Some key antioxidant nutrients that can help with this include Green Tea and the previously mentioned supplements: Turmeric, Quercetin, and Resveratrol.
Interesting Fact
Heme iron, which is found in animal-based foods like meat, poultry, and some fish, could be compared to a VIP guest at a crowded venue. Heme iron is readily absorbed by the body and therefore can bypass other regulatory mechanisms within the body, akin to skipping the lines with VIP Access. Non-heme iron, found in plant-based foods like beans, lentils, and leafy greens, takes longer for your body to break down and absorb it, similar to being stuck in line waiting for general admission.
Heme iron consumed by someone with an optimal iron metabolism is only 20-25% absorption. For example, a 4 oz hamburger contains about 3 milligrams of iron. This equates to about 1.2 mg of heme iron and about 1.8 mg of non-heme iron. The amount of heme iron absorbed from that 4 oz hamburger would be about 0.3 mg. Now consider that an individual with hereditary hemochromatosis can absorb up to four times the iron as a person who does not carry the HFE gene. This same 4 oz hamburger would equal approximately 1.2 mg of iron absorbed!
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Key Takeaways
Individuals with hemochromatosis can lead normal, healthy lives with early detection and individualized treatment.
Regular monitoring of iron levels and liver function is essential for overall health.
The best approach to managing hereditary hemochromatosis is an integrative, preventative approach that includes reducing foods naturally high in iron, increasing foods and nutrients that reduce iron absorption, and increasing key antioxidants that can help prevent oxidative damage.
Imagine always feeling tired, as though you're carrying a heavy load that no one else can see. That's what life can feel like for someone with hemochromatosis, a genetic condition in which the body stores too much iron.
Hemochromatosis is one of the most common genetic conditions in the United States, affecting approximately 1 in every 300 individuals of Northern European descent. Despite its prevalence, hemochromatosis is often overlooked or misdiagnosed because the symptoms are nonspecific and often develop gradually.
[signup]
What is Hemochromatosis?
Hemochromatosis is a genetic condition in which the body stores too much iron. Physiologically, our bodies tightly regulate iron levels. However, this regulation mechanism is disrupted in individuals with hemochromatosis, leading to iron buildup over time.
Imagine a sponge that absorbs too much water. Just like a sponge can become oversaturated and unable to absorb more water, the body in an individual with hemochromatosis absorbs too much iron, leading to an overload. Unlike a saturated sponge that can be wrung out, there is no physiologic mechanism for the excretion of excess iron from the body other than blood loss.
Iron creates free radicals, or unstable molecules, during oxidation. These free radicals can affect our body’s cells through oxidative stress. An everyday example of oxidation is the browning of an avocado once it is cut open and exposed to air. When there are too many free radicals produced in the body, it may contribute to changes in various organs and tissues over time. For a person with this iron overload condition, more iron may lead to more free radical production and the potential for future organ changes.
Genetics and Understanding Iron Overload
Based on the root cause, hemochromatosis can be classified into either:
Hereditary Hemochromatosis:
This is the inherited autosomal recessive form caused by mutations within the HFE gene. For it to develop, two copies of the mutated gene (one from each parent) must be inherited. C282Y and H63D are the most common gene mutations.
Secondary Hemochromatosis:
This often occurs due to other medical conditions, such as chronic liver disease, or other influences, such as excessive iron supplementation or iron in water. Once the outside source is identified, an individual’s iron levels typically return to optimal range.
Signs & Symptoms of Hemochromatosis
Symptoms of hemochromatosis can range from mild to severe. In the early stages of this condition, a person may be asymptomatic.
The most common symptoms of hemochromatosis are:
- Fatigue
- Joint pain, especially in the hands and knuckles
- Abdominal pain, particularly in the area of the liver
- Irregular heartbeat or palpitations
- Low libido
- Menstrual problems – irregular periods or missed periods
- Brain fog, Mood swings, Depression, Anxiety
Long-term effects of untreated iron accumulation can lead to the following:
- Liver Cirrhosis and Liver Cancer
- Organ Damage
- Insulin Resistance and Diabetes: accumulation of iron in the pancreas can interfere with insulin production
- Bronze Diabetes: Iron in the skin, along with melanin, can darken the skin
- Arthritis
Hemochromatosis affects males and females differently. Women are more likely to develop symptoms later in life due to the fact that women release iron through menstruation and childbirth.
How to Diagnose Hemochromatosis
Hemochromatosis is diagnosed through medical history, physical examination, and laboratory tests. Early detection through screening can lead to early intervention and better outcomes.
Here's an overview of the diagnostic process:
Step 1:
Medical History and Physical Exam: Ask your patients about their symptoms, medical history, and family history of hemochromatosis. Screening for hemochromatosis is recommended for individuals with a family history of the condition. During the physical exam, look for signs of hemochromatosis, such as skin discoloration or enlargement of the liver, which would warrant further investigation.
Step 2:
Two blood tests are recommended to determine the amount of excess iron in the body:
- Serum transferrin saturation: This test measures the amount of iron bound to a protein called transferrin that carries iron within your blood. Transferrin saturation values greater than 45% are considered high.
- Serum ferritin: This test measures the amount of iron stored in your liver. Ferritin levels above 300 ng/mL in biological males or above 200 ng/mL in biological females are considered high.
Serum iron, Unsaturated/Unbound Iron-Binding Capacity (UIBC), and Total Iron-Binding Capacity (TIBC) can all be assessed by Access Medical Labs or Mosaic Diagnostics.
Additionally, these blood tests may also be ordered to check for liver function:
- AST and ALT: both may be elevated if there is damage to the liver
- AST: Access Medical Labs
- ALT: Access Medical Labs
- Cholesterol, Triglycerides, Blood Sugar: these metabolic markers can increase for many reasons, including decreased liver function
Step 3:
Genetic testing, such as DNA Health, will identify mutations in the HFE gene. This helps to confirm a diagnosis in individuals with a family history of hemochromatosis or to identify carriers of the genetic mutations.
Step 4:
If tissue damage is suspected, imaging studies such as ultrasound, MRI, or CT scan may be ordered to evaluate the liver or other organs. While a Liver Biopsy remains the gold standard diagnostic test for hemochromatosis, it is less commonly used compared to lab and genetic testing due to its invasive nature.
Healthy Living Strategies & Treatment
To provide your patients with a comprehensive treatment plan, keep these three strategies in mind:
- Reduce current iron levels in the body
- Manage future iron absorption in the body
- Protect the body from free radical damage
Reduce Current Iron Levels in the Body
Treatment typically involves phlebotomy, or blood removal, to reduce iron levels in the body. This is similar to donating blood at a blood drive. However, it is typically done more frequently, depending on the individual’s condition. As a physician, you may order Iron Chelation Therapy if phlebotomy is not tolerated, as in heart conditions. The prescribed medications work to bind or ‘chelate’ the excess iron in your body, thereby removing it through urine or stool.
Certain supplements have been studied for their potential to support the body's natural processes in managing iron levels.
These include a suggested daily dose of 500 mg:
Manage Future Iron Absorption
Dietary and lifestyle shifts can help manage iron absorption and support healthy iron levels. These include:
- Consider reducing iron-rich foods such as red meat, liver, and iron-fortified foods.
- Avoid iron supplements unless advised by a healthcare provider.
- Be cautious with excessive intake of vitamin C or alcohol, as both can increase iron absorption in the body.
- Avoid raw or undercooked seafood, especially oysters; they are a primary source of Vibrio vulnificus, a bacterium that thrives in high-iron environments, and can cause severe illness and, in rare cases, fatality.
- Avoid cooking food in cast iron cookware, as this can increase the iron content of your food.
Supplementation and food sources can help support the body's natural processes in managing iron absorption and may help protect against oxidative stress.
These include:
- Calcium: Consume foods rich in calcium, especially when eating a meal rich in heme iron. These include dairy products, kale, broccoli, bok choy and sardines. Calcium citrate, at a dosage of 600 mg, is most beneficial when taken at the same time as an iron-rich meal.
- Polyphenols and Tannins: Drinking a cup of coffee or tea with a meal.
- Phytates: Including food sources such as whole wheat, oats, beans, and nuts with a heme-iron meal.
Protect the Body From Free Radical Damage
Antioxidants can support the body's defense against oxidative stress that may occur from storing excess iron.
Some key antioxidant nutrients that can help with this include Green Tea and the previously mentioned supplements: Turmeric, Quercetin, and Resveratrol.
Interesting Fact
Heme iron, which is found in animal-based foods like meat, poultry, and some fish, could be compared to a VIP guest at a crowded venue. Heme iron is readily absorbed by the body and therefore can bypass other regulatory mechanisms within the body, akin to skipping the lines with VIP Access. Non-heme iron, found in plant-based foods like beans, lentils, and leafy greens, takes longer for your body to break down and absorb it, similar to being stuck in line waiting for general admission.
Heme iron consumed by someone with an optimal iron metabolism is only 20-25% absorption. For example, a 4 oz hamburger contains about 3 milligrams of iron. This equates to about 1.2 mg of heme iron and about 1.8 mg of non-heme iron. The amount of heme iron absorbed from that 4 oz hamburger would be about 0.3 mg. Now consider that an individual with hereditary hemochromatosis can absorb up to four times the iron as a person who does not carry the HFE gene. This same 4 oz hamburger would equal approximately 1.2 mg of iron absorbed!
[signup]
Key Takeaways
Individuals with hemochromatosis can lead normal, healthy lives with early detection and individualized management.
Regular monitoring of iron levels and liver function is essential for overall health.
The best approach to managing hereditary hemochromatosis is an integrative, preventative approach that includes reducing foods naturally high in iron, increasing foods and nutrients that may help reduce iron absorption, and increasing key antioxidants that can help support the body's defense against oxidative stress.
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