Heart

How is hemochromatosis treated?

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much of iron builds up in your body (iron overload).

Overview
- Iron is a mineral found in many foods.
- Too much iron is toxic to your body.
- It can poison your organs and cause organ failure.
- In hemochromatosis, iron can build up in most of your body’s organs.
- It builds especially in the liver, heart, and pancreas.
- Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure.
- Too much iron in the pancreas can lead to diabetes.
- If hemochromatosis isn’t treated, it may even cause death.

Too much iron in the liver can cause:
- an enlarged liver,
- liver failure,
- liver cancer,
- cirrhosis (sir-RO-sis): scarring of the liver, which causes the organ to not work well.

Signs and Symptoms of Hemochromatosis:
- Joint pain
- Fatigue
- Lack of energy
- Abdominal pain
- Loss of sex drive
- Heart problems
- Arthritis
- Amenorrhea
- Early menopause
- Loss of sex drive
- Impotence
- Shortness of breath
- Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.
- Damage to the pancreas, possibly causing diabetes
- Chronic (ongoing) abdominal pain

The goals of treating hemochromatosis include:
- Reducing the amount of iron in your body to normal levels.
- Preventing or delaying organ damage from iron overload.
- Treating complications of the disease.
- Maintaining a normal amount of iron in your body for the rest of your life.
- The most effective treatment for hemochromatosis is to reduce iron in the body by phlebotomy (withdrawal of blood from the arm veins).
- One unit of blood, which contains 250 mg of iron, usually is withdrawn every one to two weeks.
- Serum ferritin and transferrin saturation are checked every two to three months.
- Once ferritin levels are below 50 ng/ml and transferrin saturations are below 50%, the frequency of phlebotomies is reduced to every two to three months.
- When hemochromatosis is diagnosed early and is treated effectively, damage to the liver, heart, testicles, pancreas and joints can be prevented completely.
- In patients with established cirrhosis, effective treatment can improve the function of the heart, skin color, and diabetes.
- The cirrhosis is irreversible and the risk of developing liver cancer remains.

The benefits of therapeutic phlebotomy in hemochromatosis are as follows:
- It prevents the development of liver cirrhosis and liver cancer upon early detection.
- It improves liver function partially in patients who have already developed advanced cirrhosis.
- It improves and completely resolves symptoms of weakness, liver pain, joint pain, and fatigue.
- It improves function of the heart in patients with mild and early heart disease.

What are dietary recommendations in hemochromatosis?
- A normal balanced diet is recommended.
- Iron containing foods are not totally avoided.
- Alcohol should be avoided.
- Alcohol consumption increases the risk of developing cirrhosis and liver cancer.
- Ingestion of high doses of vitamin C in patients with iron overload may lead to fatal abnormal heart rhythms.
- It is reasonable to avoid vitamin C supplementation until patients are adequately treated.
- Raw seafood should be avoided.
- Patients with hemochromatosis are at risk of acquiring bacterial infections that flourish in iron rich environment.

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How is hemochromatosis diagnosed?

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much of iron builds up in your body (iron overload).

Overview
- Iron is a mineral found in many foods.
- Too much iron is toxic to your body.
- It can poison your organs and cause organ failure.
- In hemochromatosis, iron can build up in most of your body’s organs.
- It builds especially in the liver, heart, and pancreas.
- Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure.
- Too much iron in the pancreas can lead to diabetes.
- If hemochromatosis isn’t treated, it may even cause death.

Too much iron in the liver can cause:
- an enlarged liver,
- liver failure,
- liver cancer,
- cirrhosis (sir-RO-sis): scarring of the liver, which causes the organ to not work well.

Signs and Symptoms of Hemochromatosis:
- Joint pain
- Fatigue
- Lack of energy
- Abdominal pain
- Loss of sex drive
- Heart problems
- Arthritis
- Amenorrhea
- Early menopause
- Loss of sex drive
- Impotence
- Shortness of breath
- Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.
- Damage to the pancreas, possibly causing diabetes
- Chronic (ongoing) abdominal pain

Diagnosis of Hemochromatosis
- Medical history
- Perform a physical examination
- Order routine blood tests

How Blood Tests Help in Diagnosing Hemochromatosis ?
- Blood tests can determine if the amount of iron stored in the body is too high.
- The transferrin saturation test determines how much iron is bound to the protein.
- This is the protein that carries iron in the blood.
- The total iron binding capacity (TIBC) test measures how well your blood can transport iron.
- The serum ferritin test shows the level of iron in the liver.
- If any of these tests shows higher-than-normal levels of iron in the body, healthcare providers can order a special blood test to detect the HFE mutation.
- This test will help confirm the diagnosis of hemochromatosis.
- If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup.

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 then the doctor will check your serum ferritin.

Using a Liver Biopsy to Confirm the Diagnosis
- A liver biopsy is a procedure where a tiny piece of liver tissue is removed and examined under a microscope.
- This may be needed to confirm a hemochromatosis diagnosis.
- It will show how much iron has accumulated in the liver.
- It will show whether the liver is damaged as a result.

Additional testing

Testing for gene mutations:
- Your doctor can test a sample of your DNA for mutations in the HFE gene.
- This test can help confirm a diagnosis of hereditary hemochromatosis.

Removing a sample of liver tissue for testing:
- During a liver biopsy, your doctor removes a sample of tissue from your liver, using a thin needle.
- The sample is sent to a laboratory where it’s checked for the presence of iron and also for evidence of liver damage, especially scarring or cirrhosis.
- Risks of biopsy include bruising, bleeding and infection.

Screening healthy people for hemochromatosis:
- Doctor may recommend a blood test to determine if you have hemochromatosis even with no linked symptoms.
- Patients undergo screening tests to determine whether they have the condition before complications can occur.

What are symptoms of hemochromatosis?

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much of iron builds up in your body (iron overload).

Overview
- Iron is a mineral found in many foods.
- Too much iron is toxic to your body.
- It can poison your organs and cause organ failure.
- In hemochromatosis, iron can build up in most of your body’s organs.
- It builds especially in the liver, heart, and pancreas.
- Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure.
- Too much iron in the pancreas can lead to diabetes.
- If hemochromatosis isn’t treated, it may even cause death.

Too much iron in the liver can cause:
- an enlarged liver,
- liver failure,
- liver cancer,
- cirrhosis (sir-RO-sis): scarring of the liver, which causes the organ to not work well.

Types of Hemochromatosis
The two types of hemochromatosis are primary and secondary.
- Primary hemochromatosis is caused by a defect in the genes. These genes control how much iron you absorb from food.
- Secondary hemochromatosis usually is the result of another disease or condition that causes iron overload.

Certain factors can affect the severity of the disease:
- A high intake of vitamin C can make hemochromatosis worse.
- This is because vitamin C helps your body absorb iron from food.
- Alcohol use can worsen liver damage.
- Cirrhosis caused by hemochromatosis.
- Conditions such as hepatitis also can further damage or weaken the liver.

How hemochromatosis affects your organs?
- Patients with hereditary hemochromatosis may absorb as much as 30 percent of the iron that is ingested.
- Your body can’t use or eliminate this extra iron, it’s stored in the tissues of major organs, especially the liver.
- Eventually you may accumulate five to 20 times as much iron as normal.
- Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.

Signs and Symptoms of Hemochromatosis:
- People with hemochromatosis absorb more iron than the body needs.
- The body has no natural way to rid itself of the excess iron, so it is stored in body tissues.
In particular, the:
- Liver
- Heart
- Pancreas.

Hemochromatosis symptoms tend to occur:
- In men between the ages of 30 and 50.
- In women over age 50.
- However, many people have no symptoms when they are diagnosed.
- Hemochromatosis can also develop in newborns and children.

Common Symptoms
- Joint pain is the most common symptom of hemochromatosis.
- Fatigue
- Lack of energy
- Abdominal pain
- Loss of sex drive
- Heart problems

Other Hemochromatosis Symptoms
- Arthritis
- Amenorrhea
- Early menopause
- Impotence (repeated inability to get or keep an erection firm enough for sexual intercourse)
- Shortness of breath.

Advanced Symptoms
Symptoms that can occur in advanced stages of hemochromatosis include:
- Arthritis
- Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.
- Damage to the pancreas, possibly causing diabetes.
- Chronic (ongoing) abdominal pain.
- Severe fatigue.
- Weakening of the heart muscle.
- Problems with your heart rate or rhythms.
- Heart failure.
- Abnormal skin color.
- Skin looks gray or bronze.