Hemochromatosis

Definition
Hemochromatosis is a disorder that interferes with iron metabolism and results in excess iron deposits throughout the body.

Causes, incidence, and risk factors

Primary hemochromatosis is the most common genetic disorder in the US, affecting an estimated 1 of every 200-300 Americans. Similar symptoms may occur from the secondary form of hemochromatosis, which can be caused by other diseases such as thalassemia or sideroblastic anemia. Hemochromatosis may also be caused by having a large number of blood transfusions, particularly in patients who get them for inherited or pre-malignant anemias. Occasionally, it may be seen with hemolytic anemia, porphyria cutanea tarda, excessive oral iron ingestion, or chronic alcoholism.

First, excess iron accumulates in the liver and causes liver enlargement. Then, other organs are affected. The disease may lead to the development of diabetes, skin pigment changes, cardiac problems, arthritis, testicular atrophy, cirrhosis of the liver, liver cancer, hypopituitarism, chronic abdominal pain, severe fatigue, and increased risk of certain bacterial infections.

Hemochromatosis affects men five times more frequently than women. It is particularly common in Caucasians of western European descent. Symptoms are often seen in men between the ages of 30 and 50 and in women over 50, although some people may develop problems by age 20. Alcoholism and a family history of hemochromatosis are risk factors.

Symptoms

     
  • Joint pain  
  • Fatigue  
  • Lack of energy  
  • Weight loss  
  • Generalized darkening of skin color (often referred to as bronzing)  
  • Abdominal pain  
  • Loss of sexual desire  
  • Testicular atrophy  
  • Loss of body hair  
  • Weakness  
  • Heart problems  
  • Symptoms related to the onset of diabetes

Signs and tests

A physical examination shows an enlarged liver, enlarged spleen, and pigmentation changes in the skin.

If hemochromatosis is suspected, blood tests may help make the diagnosis. These include:

     
  • Elevated serum iron  
  • Elevated TIBC (total iron binding capacity)  
  • Elevated serum ferritin  
  • Elevated percentage of transferrin saturation

This diagnosis may be confirmed with a liver biopsy or by systemic removal of iron through blood removal (quantitative phlebotomy).

Recently, genetic mutations have been found in some families who have hemochromatosis. Blood tests can be used to look for these genetic changes and confirm the diagnosis of hemochromatosis as well as to determine who may be at high risk of developing the disease.

Other tests after initial diagnosis may include liver function tests (LFT), CT scan, MRI, ultrasound, biphasic helical CAT scan, alpha fetoprotein, PIVKA-II, glucose, hepatitis screening, and ECG.

Treatment

The goal of treatment is to remove excess iron from the body and to give supportive treatment to damaged organs.

Iron removal is done by phlebotomy (removal of blood). One-half liter of blood is removed from the body each week for 2 to 3 years until the iron stores are depleted. After that, less frequent phlebotomy is needed to maintain iron levels within normal limits. The frequency of additional phlebotomy is determined individually for each person based on levels of hemoglobin, serum ferritin, and continuing symptoms.

Loss of sexual desire and change in secondary sexual characteristics are improved with testosterone therapy.

Management of diabetes, arthritis, liver failure, and heart failure associated with this condition are the same as conventional treatments for these problems.

People diagnosed with hemochromatosis must follow a special diet to help maintain a lower serum ferritin. The diet prohibits alcohol consumption, especially for patients who have suffered liver damage. People with hemochromatosis must also avoid iron pills or vitamins containing iron, vitamin supplements, iron cookware, raw seafood (cooked is fine), or fortified processed foods such as 100% iron breakfast cereals.

Diet does not prevent, control, or cure hemochromatosis, and phlebotomy is the most efficient method for removing excess iron from the body.

Expectations (prognosis)

The earlier a diagnosis is made and treatment is implemented, the better. If treatment is started before any organs have been affected, associated diseases such as liver disease, heart disease, arthritis, and diabetes can usually be prevented. The prognosis will be variable for people who already suffer from associated diseases, and it will depend on the degree of the organ damage. Early detection and treatment is key in preventing organ damage and associated diseases. Some of the damage to target organs can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.

Organizations such as the National Institute of Diabetes and Digestive Kidney Diseases (NIDDK), Centers for Disease Control and Prevention (CDC), and the American Hemochromatosis Society (AHS) are working to promote screening for hemochromatosis to improve early diagnosis and treatment.

Complications

     
  • Liver failure  
  • Liver cancer

Calling your health care provider
Call your health care provider if symptoms of hemochromatosis develop.

Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemochromatosis.

Prevention
Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.

Johns Hopkins patient information

Last revised: December 8, 2012
by Armen E. Martirosyan, M.D.

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