emochromatosis is a condition in which the body accumulates excess iron. Primary hemochromatosis, or hereditary hematosis (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 increased amounts of iron to accumulate in the body including dietary iron overload, juvenile hemochromatosis, anemias (eg, thalassemia), and chronic liver disease.

If diagnosed in a timely fashion, HH is easily and effectively treated, but if untreated, it 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.

Causes

Although hemochromatosis can have other causes, in the United States the disease is usually caused by a genetic disorder. A person who inherits the defective gene from both parents may develop hemochromatosis. The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. Because one inherits genes from his or her parents, this type of the disease is also called hereditary hemochromatosis.

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 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. The iron overload associated with hemochromatosis can be detected through two blood tests. The tests measure how much iron is in the body. You can have these tests done in your doctor’s office. If hemochromatosis is detected early, treatment can slow its progress and prevent serious problems. However, if the disease is not detected and treated early, it can cause more serious problems. These problems include arthritis, heart problems, and liver problems (such as cirrhosis and liver cancer).

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, which will help confirm the diagnosis.

• • If the mutation is not present, hereditary hemochromatosis is not the reason for the iron build-up, and the doctor will look for other causes.

• 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.

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, which involves 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.

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

Canada Health Portal
http://chp-pcs.gc.ca/CHP/index_e.jsp

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.

CDC