(Hereditary Hemochromatosis [HH]; Primary Hemachromatosis; Familial Hemochromatosis)
Primary or Hereditary Hemochromatosis (HH)
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- 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)
- 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
- 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
- Early menopause
- Abnormal pigmentation of the skin, making it look gray or bronze
- Thyroid deficiency
- Damage to the adrenal gland
Blood tests—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. It is examined under a microscope. It will show how much iron has accumulated in the liver. It will also show any liver damage.
- Computed tomography (CT) scan of the abdomen —a type of x-ray. It uses a computer to make pictures of the inside of the body.
- Magnetic resonance imaging (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.
- 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
- Liver cirrhosis
- Heart failure
- Brothers and sisters of people who have hemochromatosis should have their blood tested. This will help identify those that 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. These conditions may result from hemochromatosis.
American Hemochromatosis Society http://www.americanhs.org/
American Society of Hematology http://www.hematology.org/
Canadian Liver Foundation http://www.liver.ca/
Health Canada http://www.hc-sc.gc.ca/
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.
- Reviewer: Igor Puzanov, MD
- Review Date: 03/2013 -
- Update Date: 03/15/2013 -