Hemochromatosis: Causes, Picture, Symptoms and Treatment

Hemochromatosis: Causes, Picture, Symptoms and Treatment

Hemochromatosis is a serious condition causing elevated levels of irons in your body. Your body, tends to absorb too much iron from the foods you consume. The high levels of absorption elevate the iron levels in the body as the body has no way to get rid of it. Excess iron starts depositing in the other vital organs in your body. The iron deposits in the pancreas, liver, and heart can result in oxidative stress. The excess iron deposits also result in long-term organ damage. You need to take the necessary action for managing the condition. The failure to get treatment can result in irreversible organ damage. With proper diagnosis and treatment plans, you can keep the iron levels low and avoid problems.

What Is Hemochromatosis?

Hemochromatosis

Iron is important for the body. It is significant as it is a part of hemoglobin. Hemoglobin is the molecule in your blood, which helps oxygen transportation from the lungs to all other parts of the body. But, the iron levels must stay at normal to get the desired effects. The elevated levels of iron in the body can cause overload. The extra iron build is harmful to your body. Without treatment, the iron buildup affects your vital organs like the pancreas, liver, heart, endocrine glands, and joints.

Symptoms Of Hemochromatosis

People suffering from the condition may not experience noticeable symptoms. But, those who experience symptoms have varying problems. So, the signs or symptoms differ from one person to another. The common symptoms associated with the overload of iron in your body include:

  • Fatigue
  • Abdominal pain
  • Fatigue
  • Low energy or exhaustion
  • A low sex drive
  • Impotence
  • Joint pain

As the signs can mimic other health conditions, you need to see a medical professional for a proper diagnosis. Without proper treatment, the condition can escalate and result in irreversible damage.

Main Causes Hemochromatosis

In normal cases, people absorb only 10% of the iron consumed. With sufficient iron storage, your body automatically reduces the iron absorption. So, it directs the intestines to reduce the iron absorption. It prevents iron levels from rising too far. When you suffer from hemochromatosis, the body can absorb more than 30% of the iron you consume. The large quantities of iron are difficult to expel fast. So, your body starts storing the excess iron in the organ tissues. It mainly accumulated in the liver, heart, and pancreas. The condition can cause iron buildup more than 5-20 times the normal amount. Therefore, the condition can become deadly. Two main types of condition can lead to accumulation of iron and its causes varies.

Primary Hemochromatosis

Primary Hemochromatosis

It is an inherited genetic disorder. The condition can lead to excess absorption of iron from the food you consume. Primary hemochromatosis occurs due to the specific gene mutation. HFE gene is responsible for the condition. HFE gene is responsible for controlling the absorption of iron from the food you consume. The two mutations of the gene triggering the excess absorption of iron are:

  • H63D
  • C282Y

You inherit the copy of the defective from each parent leading to the condition. A person inheriting the gene from a single parent is considered as the carrier of the condition. But, carriers may not develop any symptoms associated with the problem. The inherited condition can cause symptoms in men between the ages of forty and sixty years. While women can develop the symptoms associated with the condition after menopause. You can further classify the primary type of the condition into subtypes:

Juvenile Hemochromatosis

It mostly affects people between the ages of 15 and 30 years. It is caused by the mutation in the hemojuvelin gene. So, the mutation does not occur in the HFE gene. But, the symptoms are similar to primary hemochromatosis.

Neonatal Hemochromatosis

It is a condition affecting newborn babies. The severe buildup of iron in the liver causes serious complications, including death. Unlike the other cases where excess iron absorption causes the problem, here the mother’s immune system triggers the problem. The immune system of the infant’s mother produces antibodies. It mainly protects the body from harmful substances like viruses or bacteria. But, it can affect the liver of the fetus. Women who have a child with the condition are at greater risk of having children with the same condition.

Secondary Hemochromatosis

As the name suggests, the excess buildup of iron occurs due to other underlying medical problems. So, if you are suffering from any of the following medical conditions, you can develop secondary hemochromatosis:

  • Anemia (Condition triggered due to the body’s failure to produce enough red blood cells)
  • Frequent blood transfusions
  • Chronic Liver Disease (Developed due to hepatitis C infection or consuming excess alcohol)
  • Kidney dialysis

Risk Factors For Hemochromatosis

Some people are more vulnerable to developing the condition compared to others. So, the risk factor associated are:

Primary Hemochromatosis

You have a high risk of suffering from the inherited disorder when you come under the following categories:

  • Have a close family member (like a parent, siblings or grandparent) with the disorder. Such people are prone to the gene mutations.
  • People of European descent
  • Women who are postmenopausal due to the lack of menstrual flow. Menstrual bleeding reduces the amount of iron in your blood. So, it delays the onset of signs associated with the inherited disorder in people facing a higher risk.

Men and women can inherit the gene mutation and subsequent disorder. But, the condition is common among men compared to women. So, men with the gene mutation in the family need to pay more caution.

To become affected by primary hemochromatosis, you need to have two mutated copies of the HFE gene. You get one copy from each parent to develop the problem. But, many may not develop symptoms during the initial stages. It is a problem as you fail to get proper treatment. If you have only one mutated gene from either of your parents, then you become the carrier of the disease. You have no symptoms pointing towards the condition.

Secondary Hemochromatosis

The risk factors associated with the secondary hemochromatosis are:

  • Consuming excess alcohol for a long period (alcoholism)
  • A family history of heart problems, liver disease or diabetes
  • Taking dietary supplements containing Vitamin C or Iron (it increases the amount of iron absorption in the body)

Diagnosing Hemochromatosis

HemochromatosisThe symptoms of hemochromatosis can mimic other medical conditions. So, you cannot detect the problem yourself. It is better to seek medical advice to get a proper diagnosis. For conclusive diagnosis, you need to undergo several tests. The following tests can help your doctor arrive at a proper conclusion:

Blood Testing

A blood test can be used to check your iron levels. This is assessed using tests for serum iron levels and serum ferritin levels. An additional blood test called a serum transferrin saturation test may be used to measure the amount of iron bound to the protein transferrin, which carries iron in your blood. A test result of 45 percent or more is considered high.

Genetic Testing

Genetic testing can detect the presence of faulty HFE gene/genes. But, genetic testing cannot determine if you can develop any signs or symptoms associated with the problem due to two faulty HFE genes. So, genetic testing is unable to detect the other faulty genes triggering the problem. There are two ways to perform genetic testing. The first method is to collect the cell swabs from the inside of your mouth. The other method is to draw the blood for testing from the vein in your arm.

People who have a family history of hemochromatosis need to undergo genetic testing before they plan to have children. Genetic testing and counseling will help you come to a decision. The testing can detect if one or both parents carry the faulty HFE genes. The testing also helps you figure out the probability of the parents passing the faulty genes to their children.

Magnetic Resonance Imaging

It offers a comprehensive image of your internal organs. MRI uses the radio waves to create comprehensive organs to show the amount of iron in organs like the liver. The use of radio waves and a magnetic field can safely produce images.

Superconducting Quantum Interference Device

It is the machine used by the doctors to measure the amount of iron accumulated in the liver. The machine has sensitive magnets, which can detect and measure the iron amounts. But, the machine is available only in a few medical centers.

Liver Biopsy

Liver Biopsy

Your doctor can also suggest taking a sample from your liver tissue for liver biopsy. The sample tissue is tested in the pathology lab. The doctor looks for the presence of iron. It also detects the signs of liver damage. When iron starts to accumulate in the body, the liver is the main storage site. It is one of the first organs affected by the excess iron buildup.

Complications Due To Hemochromatosis

The excess iron content in your body needs immediate medical attention. But, when you fail to seek proper treatment for the condition. It can trigger several complications. You can suffer from the issues in vital organs due to excess iron deposits. So, you experience problems in the heart, pancreas, and liver. The complications associated with hemochromatosis include:

Liver Problems

The excess iron deposits in the liver can cause a problem to your liver. You can suffer from the following complications of the liver:

Some of the problems can trigger life-threatening complications. You need to get immediate medical treatment.

Complications Of Pancreas

The excess deposits of iron in your pancreas can damage the organ. It can lead to high blood sugar. So, the condition results in diabetes. The possibility of developing diabetes is high for people who have a family history of diabetes.

Heart Problems

Heart Problems

Excess iron deposits in your heart can affect the ability of the organ to circulate blood properly. So, the inability to pump enough blood to your body’s need can affect its normal function. It can lead to abnormal heart rhythms, also known as arrhythmias. The condition can also weaken the heart muscles, leading to heart failure.

Reproductive Problems

Excess iron deposits can affect the reproductive organ. In men, the condition can lead to erectile dysfunction (impotence). Men can find it difficult to get an erection or sustain it for a long time. It can cause problems in sex life. Loss of sex drive is also common among men who fail to seek treatment for high iron levels. In women, the condition can obstruct the monthly menstrual cycle.

Changes In Skin Color

The deposits of iron in your skin cells can change the appearance. It can make your skin appear gray or bronze.

It is important to seek treatment as early as possible to overcome the complications associated with the problem.

Treating Hemochromatosis

You have some effective treatment option to remove the iron deposits in your body. It will prevent damage to the organs and help manage the condition effectively.

Phlebotomy

Phlebotomy

Phlebotomy is an effective treatment to remove the excess iron accumulated in the body. The treatment involves removing blood from the body. It is the cheapest yet the most effective therapy to manage the condition. But, you need to undergo phlebotomy regularly to remove the excess accumulation of iron. When you start the treatment, you need to undergo the procedure at least twice a week. After the initial treatments, you need to repeat the procedure for four to six times a year to manage the condition. Though phlebotomy is the most effective method to relieve the symptoms associated with excess iron content in your body, some people may feel discomfort. The procedure has little side effects. But, people who experience the following may refuse the treatment option:

  • A fear of needles
  • Excess fatigue due to undergoing the procedure
  • Experience pain during the process
  • The concern of suffering from anemia due to excess bleeding
  • Discomfort with undergoing blood transfusion or its disposal

As other treatment options have a huge price tag associated with it, you need to opt phlebotomy. Talk to your doctor about your concerns and question. Professional consultation can make things easier. Simple steps like drinking more water of fluids the day before the procedure can make you feel more comfortable.

Iron Chelation Therapy

For people who cannot undergo phlebotomy for any reason, you have other options. Iron chelation therapy is suitable for such people. It makes use of a chelating drug to remove the excess iron content from the body. Your doctor injects the medication or you can take it orally in the form of a pill. The excess iron accumulated in the body is expelled through urine and stool. The treatment option is ideal for people who cannot undergo frequent blood transfusions or have heart complications. You need to talk to your doctor before undergoing the therapy as it can have some side effects.

Treatment For Other Complications

If the excess iron accumulation has affected any organ, then your treatment to deal with it. So, the doctor can offer treatment for complications like:

  • Liver Problems
  • Heart Diseases
  • Diabetes

You need to seek advice from the medical professional as early as possible to prevent any lasting damage to the vital organs. With proper care and treatment, you can improve the quality of your life.

Lifestyle Changes To Manage Hemochromatosis

In addition to the treatment to control the excess iron levels in your blood, you need to take steps to prevent the worsening of the condition. To reduce the risk or complications associated with high iron levels in the body, you have to make some lifestyle changes. You have to change your diet to enhance your health. Here are the main steps to manage hemochromatosis:

Avoid Iron Supplements

When you have excess iron content in the body, it is better to avoid any supplements containing iron. So, refrain from using iron supplements. It is also advised not to take multivitamins containing iron. Also, avoid vitamin C supplements as it promotes the iron absorption by your body. The supplements can increase the iron levels, making you suffer from severe complications.

Diet Changes

The ideal diet to prevent complications includes foods low in iron content. But, you must also ensure the food you add in your diet does not promote iron absorption. Some dietary factors affect the absorption of iron in your body. So, here is the ideal diet list:

Foods To Avoid

It is important to avoid iron-rich food (plant and animal-based) from your diet. You must also use the other nutrients in moderation, which can increase the iron levels. So, refrain from the following:

  • Avoid excess consumption of red meat. But, you can consume it moderation for a well-rounded diet.
  • Seafood does not contain high levels of iron. But, raw shellfish and fish can cause infections. Vibrio vulnificus is the bacteria present in raw shellfish.
  • While you have to avoid Vitamin C supplements, you can consume fruits containing the vitamin in moderation.
  • Avoid fortified foods. It contains high levels of calcium, iron, and zinc.

Food To Add

You can add the following food items in your diet. The following food items can help you manage the iron contents in your body.

  • Fruits and vegetables contain antioxidants that will help you reduce oxidative stress and prevent free radical activity.
  • Grains and legumes contain phytic acid. It can inhibit the iron absorption in your body. People suffering from the excess iron content in the body need to add grains and legumes to prevent over absorption of iron.
  • Egg York contains a phosphoprotein called phosvitin. It inhibits the absorption of iron in your body.
  • Include tea and coffee in your diet. It contains tannins, the polyphenolic substances, also known as tannic acid. Tannic acid prevents the absorption of iron in your body.

Refrain From Using Alcohol

You need to avoid consuming alcohol. People with a high risk of the condition need to stop using alcohol. It makes you susceptible to liver problems. The liver problem can cause fatal complications to your health. So, stay off alcohol completely.

Preventing Hemochromatosis

It is not possible to prevent hemochromatosis (primary or inherited). But, people who inherit the specific genes may not develop the symptoms or other complications of the disease. You need proper treatment to keep the problem from escalating into something worse. But, you need to take some steps:

Genetic Testing

People who already suffer from the condition or have a family history of the problem need to undergo genetic testing. The genetic testing and counseling will help you understand the possibility of one or both having the faulty HFE genes. You need to talk to a genetic counselor to figure out the probability of affected people passing the faulty gene to their babies.

Conclusion

If you suffer hemochromatosis, then you need to manage it for your whole life. With proper medication and care, you can prevent any irreversible damage. The treatments aim to reduce the iron content in your body and bring it to normal levels. With early diagnosis, you can get proper treatment early. So, it prevents organ damage. In such cases, you can live a normal and happy life without complications. But, if you diagnose the problem after suffering damage to the organ, the outlook depends on the amount of damaged suffered to the organs. You can reverse the damage with early medical intervention. For severe cases, patients suffer from cirrhosis. The scarring of the liver puts you at risk of organ failure and other complications. So, never ignore the signs and get treatment immediately.

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