Hemochromatosis
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Hemochromatosis

(Hereditary Hemochromatosis [HH]; Primary Hemachromatosis; Familial Hemochromatosis)

Pronounced: He-moe-chrome-uh-toe-sis

En Español (Spanish Version)

Definition

Hemochromatosis is a condition in which the body accumulates excess iron. Primary hemochromatosis, or hereditary hemochromatosis (HH), is an inherited disorder that is a result of faulty genes causing abnormal regulation of iron absorption from the gastrointestinal tract.

Hereditary hemochromatosis is the most common genetic disorder in the US, affecting an estimated 1 of every 200-300 Americans. Secondary hemochromatosis results from treatments or diseases that cause iron to accumulate in the body. Dietary iron overload, juvenile hemochromatosis, anemias (eg, thalassemia ), and chronic liver disease all increase iron accumulation levels.

If diagnosed in a timely fashion HH is easily and effectively treated. Untreated HH can lead to severe organ damage. Build-up of iron over years results in excess iron deposited in the cells of the liver, heart, pancreas, joints, and pituitary gland, leading to diseases such as cirrhosis of the liver, liver cancer , diabetes , heart disease , and joint disease.

The Liver

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Causes

Hereditary hemochromatosis is caused by a genetic defect. Specifically, it is passed down through autosomal recessive inheritance, which means a child who inherits two copies of altered hemochromatosis genes (one from each parent) is highly likely to develop the disease. However, not all people who have two copies of changed hemochromatosis genes develop signs and symptoms of HH. The two most common mutations of the HFe gene are the C282Y and H63D mutations.

Risk Factors

A risk factor is something that increases your chance of getting a disease or condition.

Risk factors include:

  • Family members with hemochromatosis
  • Men: onset between 30-50 years old (Hemochromatosis affects men five times more frequently than women.)
  • Women: 50 years old or older (postmenopausal)
  • Western or Northern European ancestry
  • Alcoholism (which can lead to liver disease and secondary hemochromatosis)

Symptoms

Many people have no symptoms when they are diagnosed. But when they occur, symptoms may include:

  • Joint pain (most common symptom)
  • Fatigue, lack of energy
  • Abdominal pain
  • Loss of sex drive
  • Heart problems
  • Damage to the adrenal gland and resulting adrenal insufficiency

If the disease is not detected early and treated, iron may accumulate in body tissues and may eventually lead to serious problems such as:

  • Arthritis
  • Liver disease, including an enlarged liver, cirrhosis, cancer , and liver failure
  • Damage to the pancreas, possibly causing diabetes
  • Heart abnormalities, such as irregular heart rhythms or congestive heart failure
  • Impotence
  • Early menopause
  • Abnormal pigmentation of the skin, making it look gray or bronze
  • Thyroid deficiency
  • Damage to the adrenal gland

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam.

Tests may include:

  • Blood tests can determine whether the amount of iron stored in the body is too high
    • Transferrin saturation test—determines how much iron is bound to the protein that carries iron in the blood
    • Serum ferritin test—shows the level of iron in the liver
  • Blood tests can determine if hemochromatosis is hereditary
    • There are special blood tests to detect the mutation (C282Y and H63D mutations account for about 87% of HH cases)
    • If the mutation is not present the doctor will look for other causes of iron build up
  • Tests to examine the liver:
    • Liver Biopsy —a tiny piece of liver tissue is removed and examined under a microscope. It will show how much iron has accumulated in the liver and whether the liver is damaged.
    • 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 .
    • Ultrasound —a test that uses sound waves to examine the liver.

Treatment

Treatment is simple, inexpensive, and safe.

Blood Removal

The first step is to rid the body of excess iron. The process is called phlebotomy, which means removing blood. Depending on how severe the iron overload is, a pint of blood will be taken once or twice a week for several months to a year, and occasionally longer. Once iron levels return to normal, maintenance therapy, giving a pint of blood every 2 to 4 months for life, begins. Some people may need it more often and female patients may need to increase their phlebotomy schedule after menopause.

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.

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.

Prevention

Hemochromatosis is often undiagnosed and untreated. It is considered rare and doctors may not think to test for it. The initial symptoms can be diverse and vague and can mimic the symptoms of many other diseases. Also, doctors may focus on the conditions caused by hemochromatosis, arthritis, liver disease, heart disease, or diabetes, rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life. Screening for hemochromatosis (testing people who have no symptoms) is not a routine part of medical care or checkups. However, researchers and public health officials do have some suggestions:

  • Brothers and sisters of people who have hemochromatosis should have their blood tested to see if they have the disease or are carriers.
  • Parents, children, and other close relatives of people who have the disease should consider testing.
  • Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence , and diabetes, because these conditions may result from hemochromatosis.

Talking to a genetic counselor can help you review your family history, determine your specific risks, and review the appropriate testing for hemochromatosis.

RESOURCES:

American Hemochromatosis Society
http://www.americanhs.org

American Society of Hematology
http://www.hematology.org

CANADIAN RESOURCES

Health Canada
www.hc-sc.gc.ca/index_e.html

Canadian Liver Foundation
http://www.liver.ca/Home.aspx

References:

Current Medical Diagnosis and Treatment . Lange Medical Books; 2001.

Family Practice Sourcebook . Mosby; 2000.

Ferri's Clinical Advisor . Mosby; 2000.

The Little Black Book of Primary Care . Blackwell Science; 1999.



Last reviewed November 2007 by Mark A. Best, MD, MPH, MBA, FCAP, FASCP

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.


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