Hereditary Hemochromatosis
What is hereditary hemochromatosis? What
causes it?
Hereditary
hemochromatosis is a health problem that is passed from
parents to children. It is inherited by passing on the HFE
gene. The HFE gene makes your body store too much iron. The
extra iron builds up in your body. This is called "iron
overload." Iron overload can damage tissues and organs.
Does anything else cause iron overload?
Yes, you could have iron overload
that isn't caused by a hereditary problem. Iron overload can
show up in people who have been taking iron pills for more
than 10 years. People who have to get many blood transfusions
might end up with iron overload. In addition, people with
certain kinds of anemia or liver disease may also have iron
overload.
What are some signs of hereditary
hemochromatosis?
Most people with hereditary
hemochromatosis show no signs of the illness until they are
middle-aged. They might have only mild signs, like tiredness,
or they might have arthritis or impotence. These signs can
also be caused by something else. They might not mean that you
have hereditary hemochromatosis.
The signs of hereditary
hemochromatosis are different from person to person. Men are
more likely to have signs than women. The signs you have
depend on the amount of iron in your diet or if you are taking
iron pills or drinking alcohol. Blood loss in menstruation and
pregnancy can also be factors.
People who have a very high iron
level may have skin with a bronze or gray color. Their liver
may get bigger. Their lab tests may be abnormal. The liver may
become scarred. They might get cirrhosis--permanent and
extensive scarring in the liver. Other signs of hereditary
hemochromatosis include diabetes, a weak heart, and problems
with glands or joints.
How does my doctor find out if I have
hereditary hemochromatosis?
Your doctor will ask you about
certain signs, do a physical exam and look at the results of
your blood tests. If your blood tests are not normal, your
doctor might do a test to look for an HFE gene.
If you have signs of hereditary
hemochromatosis, you might need to have a liver biopsy to see
if your liver is damaged. For the biopsy, a small piece is
taken from your liver and looked at under a microscope. If you
have cirrhosis, you have a high risk for getting liver cancer.
A few people need to have a liver transplant.
How is hereditary hemochromatosis treated?
You will probably have phlebotomy
(say this: flee-bot-oh-me). This word means removal of blood.
A pint of blood is taken out of your body once a week. It's
just like donating blood.
It may take a few months to a few
years of weekly phlebotomy to get the extra iron out of your
body. Then you will have phlebotomy about four times a year to
keep the iron from building up again. The goal of the
treatment is to keep a normal level of iron in your
blood.
If you have hereditary
hemochromatosis, you can do some things to help:
- Don't take iron supplements,
not even vitamins with iron in them.
- Don't eat very much red meat.
- Don't drink very much alcohol.
You might give up all alcohol. Too much iron plus alcohol
can make liver disease worse. Ask your doctor if you can
drink alcohol and how much is OK for you to drink.
- Don't eat raw shellfish. Don't
even touch raw shellfish, because you have an increased risk
of bacterial infection.
What is the outlook for people with
hereditary hemochromatosis?
With early diagnosis and treatment, nearly all the
problems of hereditary hemochromatosis can be prevented. If
the illness is diagnosed and treated before you get cirrhosis
or diabetes, your life expectancy should be normal.
Who should be tested for hereditary
hemochromatosis?
Everyone with a relative with
hereditary hemochromatosis should have blood tests to see if
they also have it. All people with medical conditions that
could be caused by hereditary hemochromatosis should be
checked for iron overload. Even if your lab results are
normal, you might need to get blood tests again every few
years if you have some of the signs of hereditary
hemochromatosis or a relative with it.
Adult relatives of a person with
hereditary hemochromatosis might consider having a special
test to look for an abnormal HFE gene. This test would tell
their doctor if they might also have hereditary
hemochromatosis.
Your doctor should explain to you
the benefits and risks of genetic testing, because you could
have problems with your job or getting insurance if you have
the HFE gene. That is why HFE gene testing usually is not
recommended for children younger than 18 years of
age.
Other Organizations
Iron Overload Diseases
Association (IOD)
http://www.ironoverload.org
433 Westwind Drive
North Palm
Beach, FL 33408
561-840-8512
Iron Disorders Institute
Inc.
http://www.irondisorders.org
P.O. Box 2031
Greenville, SC
29602
888-565-4766
American Liver
Foundation
http://www.liverfoundation.org
75 Maiden Lane, Suite 603
New
York, NY 10038-4810
800-465-4837
Source
Recognition and Management
of Hereditary Hemochromatosis (American Family
Physician March 1, 2002, http://www.aafp.org/afp/20020301/853.html)
