Hemochromatosis

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- One unit of blood, which contains 250 mg of iron, usually is withdrawn every one to two weeks.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.

| More

If you found this post informative, why not sign up to receive new posts ?
It's simple, and free, and you can even opt to receive by email:
Subscribe in a reader
Subscribe to Good Health Tips by Email

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.