Hemochromatosis

Hemochromatosis is too much iron in the blood. It is a genetic disorder. This results in iron being deposited in the skin and organs.

Causes

Hemochromatosis is caused by a genetic defect. It runs in families.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.
  • Family members with hemochromatosis
  • Age: 50 or older
  • Race: White male of European ancestry

Symptoms

Symptoms may include:
  • Joint pain
  • Swollen liver
  • Cirrhosis of the liver
  • Abdominal pain
  • Weakness
  • Development of abnormal, fragile blood vessels in the esophagus (esophageal varices)
  • Serious bleeding from esophageal varices
  • Skin color changes (may be gray, brown, or bronze)
  • Enlarged heart
  • Heart failure
  • Diabetes
  • Sexual impotence in men

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam.
Tests may include:
  • Blood tests to check liver function
  • Tests to examine the liver:
    • CT Scan of the abdomen – a type of x-ray that uses a computer to make pictures of the inside of the body
    • MRI Scan of the abdomen – a test that uses magnetic waves to make pictures of the inside of the body
    • Liver biopsy – removal of a sample of liver tissue to be examined
    • Ultrasound – a test that uses sound waves to examine the liver
  • Genetic testing to verify the presence of the genetic defect that causes Hemochromatosis

Treatment

Treatments include:
Lifestyle Changes
These include steps to reduce the amount of iron you consume and/or absorb, and to help protect your liver:
  • Do not eat red meat or raw shellfish.
  • Do not take vitamin C supplements.
  • Do not take iron supplements.
  • Avoid alcohol.
Weekly Removal of Blood
This involves removing about 500 mL of blood each week over the course of 2-3 years. This procedure is called phlebotomy. Phlebotomy decreases the total amount of iron in your body. After you reach the appropriate level of iron in your system, you'll only need to have blood removed every 2-4 months.
Deferoxamine
This medication is given intravenously (IV). It helps remove iron from the body.
Treating Associated Medical Conditions
If Hemochromatosis has caused you to develop diabetes, liver cirrhosis, or heart failure, you'll need to be treated for these conditions.
Liver Transplant
This is a treatment of last resort for very severe liver cirrhosis due to Hemochromatosis.

Prevention

Because Hemochromatosis is a genetic disease, there are no known ways to prevent it. However, if the disease runs in your family, you should have genetic testing to see if you have the causative genetic defect. If this defect is identified early, you can be monitored before you develop symptoms. This may allow you to receive treatment very early in the course of the disease, and avoid serious complications.