What Is Hemochromatosis?
Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease
in which too much iron builds up in your body (iron overload). Iron is a
mineral found in many foods.
Too much iron is toxic to your body. It can poison
your organs and cause organ failure. In hemochromatosis, iron can build up in
most of your body's organs, but especially in the liver, heart, and pancreas.
Too much iron in the liver can cause an enlarged
liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is
scarring of the liver, which causes it to not work properly.
Too much iron in the heart can cause
arrhythmias
(ah-RITH-me-ahs), or irregular heartbeats, and
heart
failure. Too much iron in the pancreas can lead to
diabetes.
If hemochromatosis isn't treated, it may even cause
death.
Overview
There are two types of hemochromatosis: primary and
secondary. A defect in the genes that control how much iron you absorb from
food causes primary hemochromatosis. Secondary hemochromatosis usually is the
result of another disease or condition that causes iron overload.
Most people who have primary hemochromatosis inherit
it from their parents. If you inherit two hemochromatosis genesone from
each parentyou're at risk for iron overload and signs and symptoms of the
disease. The two faulty genes cause your body to absorb more iron than usual
from the foods you eat.
Hemochromatosis is one of the most common genetic
disorders in the United States. About 1 million people in the United States
have the disease.
Not everyone who has hemochromatosis has signs or
symptoms of the disease. Estimates of how many people develop signs and
symptoms vary greatly. Some estimates suggest that as many as half of all
people who have the disease don't have signs or symptoms.
The severity of hemochromatosis also varies from
person to person. Some people don't have complications, even with high amounts
of iron in their bodies. Others have severe complications or die from the
disease.
Certain factors can affect how severe the disease
is. For example, a high intake of vitamin C can make hemochromatosis worse.
This is because vitamin C helps your body absorb iron from food.
Alcohol use can worsen liver damage and cirrhosis
caused by hemochromatosis. Conditions such as hepatitis also can further damage
or weaken the liver.
Outlook
The outlook for
people who have hemochromatosis largely depends on how much organ damage they
have at the time of diagnosis. Early diagnosis and treatment of the disease are
important.
Treatment may help
prevent, delay, or sometimes reverse complications of the disease. Treatment
also may lead to better quality of life.
For people who are diagnosed and treated early, a
normal lifespan is possible. If left untreated, hemochromatosis can lead to
severe organ damage and even death.
Other Names for Hemochromatosis
- Acquired hemochromatosis
- Classical hemochromatosis
- Genetic hemochromatosis
- Genetic iron poisoning
- Hereditary hemochromatosis
- Iron overload disease
- Primary hemochromatosis
- Secondary hemochromatosis
What Causes Hemochromatosis?
There are two types of hemochromatosis: primary and
secondary. Each type has a different cause.
Primary Hemochromatosis
A defect in the genes that control how much iron you
absorb from food causes primary hemochromatosis. This form of the disease is
sometimes called hereditary or classical hemochromatosis. Primary
hemochromatosis is the most common type of the disease.
The genes usually involved in primary
hemochromatosis are called HFE genes. Faulty HFE genes cause the body to absorb
too much iron. If you inherit two copies of the faulty HFE gene (one from each
parent), you're at risk for iron overload and signs and symptoms of
hemochromatosis.
If you inherit one faulty HFE gene and one normal
HFE gene, you're a "hemochromatosis carrier." Carriers usually don't develop
the disease. However, they can pass the faulty gene on to their children.
Estimates suggest that about 1 in 10 people in the United States are
hemochromatosis carriers.
If two parents are carriers of the faulty HFE gene,
then each of their children has a 1 in 4 chance of inheriting two faulty
HFE genes.
Although less common, other abnormal genes also can
cause hemochromatosis. Researchers continue to study what changes to normal
genes may cause the disease.
Secondary Hemochromatosis
This type of hemochromatosis usually is the result
of another disease or condition that causes iron overload. Examples of such
diseases and conditions include:
- Certain types of
anemia,
such as
thalassemias
and sideroblastic anemia
- Atransferrinemia and aceruloplasminemiaboth
are rare, inherited diseases
- Chronic liver diseases, such as chronic hepatitis
C infection, alcoholic liver disease, or nonalcoholic steatohepatitis
Other factors also can cause secondary
hemochromatosis, including:
- Blood
transfusions
- Oral iron pills or iron injections, with or
without very high vitamin C intake (vitamin C helps your body absorb iron)
- Long-term kidney dialysis
Who Is At Risk for Hemochromatosis?
Hemochromatosis is one of the most common genetic
diseases in the United States. About 1 million people in the United States it.
Hemochromatosis is most common in Caucasians of
Northern European descent. The disease is uncommon in African Americans,
Hispanics, Asians, and American Indians.
Hemochromatosis is more common in men than in women.
Older people are more likely to develop the disease than younger people. In
fact, signs and symptoms usually don't occur in men until they're 40 to 60
years old.
In women, signs and symptoms usually don't occur
until after the age of 50 (after menopause). Young children rarely develop
hemochromatosis.
Inheriting two faulty HFE genes (one from each
parent) is the major risk factor for hemochromatosis. However, many people who
have two copies of the faulty gene don't develop signs or symptoms of the
disease.
Alcoholism is another risk factor for
hemochromatosis. A family history of certain diseases and conditions also puts
you at higher risk for hemochromatosis. Examples of such diseases and
conditions include
heart
attack, liver disease,
diabetes, arthritis, and erectile dysfunction
(impotence).
What Are the Signs and Symptoms of
Hemochromatosis?
Hemochromatosis can affect many parts of the body
and can cause various signs and symptoms. Many of the signs and symptoms are
similar to those of other diseases. As many as half of the people who have
hemochromatosis may not have signs or symptoms.
Signs and symptoms of hemochromatosis usually don't
occur until middle age. Women are more likely to have general symptoms first,
such as fatigue (tiredness). In men, complications such as
diabetes or cirrhosis (scarring of the liver) often are the
first sign of the disease.
Signs and symptoms also vary based on how severe the
disease is. Common signs and symptoms of hemochromatosis include joint pain,
fatigue, general weakness, weight loss, and abdominal pain.
Hemochromatosis Complications
If hemochromatosis isn't found and treated early,
iron builds up in your body and can lead to:
- Liver disease, including an enlarged liver, liver
failure, liver cancer, or cirrhosis (scarring of the liver)
- Heart problems, including
arrhythmias
(irregular heartbeats) and
heart
failure
- Diabetes, especially in people who have a family
history of diabetes
- Joint damage and pain, including arthritis
- Reproductive organ failure, such as impotence,
shrinkage of the testicles, and loss of sex drive in men, and absence of the
menstrual cycle and early menopause in women
- Changes in skin color that make the skin look
gray or bronze
- Underactive pituitary and thyroid glands
- Damage to the adrenal glands
How Is Hemochromatosis Diagnosed?
Your doctor will diagnose hemochromatosis based on
your medical and family histories, a physical exam, and the results from tests
and procedures.
The disease is sometimes found during the diagnosis
of other diseases or conditions such as arthritis, liver disease,
diabetes, heart disease, and impotence.
Specialists Involved
Family doctors or internal medicine specialists may
diagnose and treat hemochromatosis. Other doctors also may be involved in
diagnosing and treating the disease, including:
- A hematologist (blood disease specialist)
- A cardiologist (heart specialist)
- An endocrinologist (gland system specialist)
- A hepatologist (liver specialist)
- A gastroenterologist (digestive tract specialist)
- A rheumatologist (specialist in diseases of the
joints and tissues)
Medical and Family Histories
To learn about your medical and family histories,
your doctor may ask:
- About your signs and symptoms, including when
they started and how severe they are.
- Whether you take iron (pills or injections) with
or without vitamin C supplements (vitamin C helps your body absorb iron from
food). If so, your doctor may ask how much iron you take. This information can
help him or her diagnose secondary hemochromatosis.
- Whether other members of your family have
hemochromatosis.
- Whether other members of your family have a
history of medical problems or diseases related to hemochromatosis.
Physical Exam
Your doctor will do a physical exam to check for
signs and symptoms of hemochromatosis. He or she will listen to your heart for
irregular heartbeats and check for arthritis, abnormal skin color, and an
enlarged liver.
Diagnostic Tests and
Procedures
Your doctor may
recommend one or more tests or procedures to diagnose hemochromatosis.
Blood Tests
In hemochromatosis, the amount of iron in your body
may be too high even though the level of iron in your blood is normal. As a
result, doctors use certain
blood
tests that give clues about how much iron is in your body.
During these tests, a small amount of blood is taken
from your body. It's usually drawn from a vein in your arm using a needle. The
procedure usually is quick and easy, although it may cause some short-term
discomfort.
The blood tests you have may include transferrin
saturation (TS), serum ferritin level, and liver function tests.
Transferrin is a protein that carries iron in the
blood. The TS test shows how much iron the transferrin is carrying. This helps
tell your doctor how much iron is in your body.
Your doctor may test your serum ferritin level if
your TS level is high. A serum ferritin level test shows how much iron is
stored in your body's organs. A buildup of iron may suggest hemochromatosis.
You may have liver function tests to check for
damage to your liver. Liver damage may be a sign of hemochromatosis. If you've
been diagnosed with hemochromatosis, liver function tests may show how severe
the disease is.
Blood tests alone can't diagnose hemochromatosis.
Thus, your doctor may recommend other tests as well.
Liver Biopsy
During a liver biopsy, your doctor numbs an area
near your liver and then removes a small sample of liver tissue using a needle.
The tissue is then examined under a microscope.
A liver biopsy can show how much iron is in your
liver. This procedure also can diagnose liver damage (for example, scarring and
cancer). Liver biopsies are less common now than in the past.
Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a safe test that
uses radio waves, magnets, and a computer to create pictures of your organs. An
MRI may be done to show the amount of iron in your liver.
Superconducting
Quantum Interference Device
A superconducting
quantum interference device (SQuID) is a machine that uses very sensitive
magnets to measure the amount of iron in your liver. It's available at only a
few medical centers.
Genetic Testing
Genetic testing can show whether you have a faulty
HFE gene or genes. However, even if you do have two faulty HFE genes, the
genetic test can't predict whether you will develop the signs and symptoms of
hemochromatosis.
Also, genetic testing may not detect other, less
common faulty genes that also can cause hemochromatosis.
There are two ways to do genetic testing. Cells can
be collected from inside your mouth using a cotton swab or a sample of blood
can be drawn from a vein in your arm and then tested.
People who have hemochromatosis or a family history
of it and are planning to have children may want to consider genetic testing
and counseling. This will help show whether one or both parents have faulty HFE
genes. A genetic counselor also can help figure out the likelihood of the
parents passing the faulty genes on to their children.
How Is Hemochromatosis Treated?
Treatments for hemochromatosis include therapeutic
phlebotomy (fle-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary
changes, and treatment for complications.
Goals of Treatment
The goals of treating hemochromatosis include:
- Reducing the amount of iron in your body to
normal levels
- Preventing or delaying organ damage from iron
overload
- Treating complications of the disease
- Maintaining a normal amount of iron in your body
for the rest of your life
Therapeutic Phlebotomy
Therapeutic phlebotomy is a procedure that removes
blood (and iron) from your body. For this procedure, a needle is inserted into
your vein, and your blood flows through an airtight tube into a sterile
container or bag.
The process is similar to donating blood and can be
done at blood donation centers, hospital donation centers, or a doctor's
office.
In the first stage of treatment, about 1 pint of
blood is removed once or twice a week. After your iron levels return to normal,
you may continue phlebotomy treatments. However, you may need them less
oftentypically every 3 months.
As long as treatment continues, which is often for
the rest of your life, your doctor will order frequent
blood
tests to check your iron levels.
Iron Chelation Therapy
Iron chelation therapy uses medicine to remove
excess iron from your body. This treatment is a good option for people who
can't have routine blood removal.
The medicine used in iron chelation therapy is
either injected or taken orally. Injected iron chelation therapy is done at a
doctor's office. Oral iron chelation therapy can be done at home.
Dietary Changes
Your doctor may
suggest that you change your diet if you have hemochromatosis. You may be
advised to:
- Avoid taking iron, including iron pills, iron
injections, or multivitamins that contain iron.
- Limit your intake of vitamin C. Vitamin C helps
your body absorb iron from food. Talk to your doctor about how much vitamin C
is safe for you.
- Avoid uncooked fish and shellfish. Some fish and
shellfish contain bacteria that can cause infections in people who have chronic
diseases, such as hemochromatosis.
- Limit alcohol intake. Drinking alcohol increases
the risk for liver disease and can make liver disease worse.
Treatment for Complications
Your doctor may prescribe other treatment as needed
for complications such as liver disease, heart problems, or
diabetes.
How Can Hemochromatosis Be Prevented?
You can't prevent primary, or inherited,
hemochromatosis. However, not everyone who inherits hemochromatosis genes
develops symptoms or complications of the disease. In those who do, treatments
can keep the disease from getting worse.
Treatments include therapeutic phlebotomy, iron
chelation therapy, dietary changes, and other treatments. For more information,
see "How Is Hemochromatosis Treated?"
People who have hemochromatosis or a family history
of it and are planning to have children may want to consider genetic testing
and counseling. This will help show whether one or both parents have faulty HFE
genes. A genetic counselor also can help figure out the likelihood of the
parents passing the faulty genes on to their children.
Living With Hemochromatosis
The outlook for
people who have hemochromatosis largely depends on how much organ damage has
already occurred at the time of diagnosis. Early diagnosis and treatment of the
disorder are important.
Treatment may help prevent, delay, or sometimes
reverse complications of the disorder. Treatment also may lead to higher energy
levels and better quality of life. With early diagnosis and treatment, a normal
lifespan is possible.
If organ damage has already occurred, treatment may
prevent further damage and improve life expectancy. However, treatment may not
be able to reverse existing damage.
If hemochromatosis isn't treated, it can lead to
severe organ damage or even death.
What To Expect After Treatment
People have different responses to treatment. Some
people who have frequent therapeutic phlebotomy may feel very tired. People who
have advanced disease or who are getting aggressive (very strong) treatment
that weakens them may need help with daily tasks and activities.
For the first 6 months to 3 years after diagnosis,
you may need to have therapeutic phlebotomy often. How long you will need this
treatment depends on how much extra iron is in your body.
After the initial treatment period, you may need
ongoing treatment two to six times a year. This will help prevent the iron from
building up again.
Ongoing Care
If you have hemochromatosis, getting ongoing care is
important. Ongoing care may include:
- Continuing therapeutic phlebotomy
- Taking medicines as prescribed
- Contacting your doctor right away about new or
worsening symptoms, or about possible reactions to phlebotomy
- Following up regularly with your doctor about
test results, ongoing treatments, and annual exams
- Using a diary or log to track the amount of iron
in your body
If you need routine phlebotomy, you may have to
change your usual work times to schedule your treatments. You also may have to
change your work schedule to allow for periods of fatigue (tiredness) or
recovery, especially if your treatment weakens you.
Emotional Issues
Having hemochromatosis may cause fear, anxiety,
depression, and stress. It's important to talk about how you feel with your
health care team. Talking to a professional counselor also can help. If you're
feeling very depressed, your health care team or counselor may prescribe
medicines to make you feel better.
Joining a patient support group may help you adjust
to living with hemochromatosis. You can see how other people who have the same
symptoms have coped with them. Talk to your doctor about local support groups
or check with an area medical center.
Support from family and friends also can help
relieve stress and anxiety. Let your loved ones know how you feel and what they
can do to help you.
Screening Family Members for Hemochromatosis
Parents, grandparents, brothers and sisters, and
children (blood relatives) of a person who has hemochromatosis may be at risk
for the disease. Talk with your doctor to see whether your relatives should
have their iron levels checked.
Your doctor may recommend genetic testing to show
whether family members are at risk for the disease. If a relative already has
been diagnosed with hemochromatosis, a genetic test can show whether he or she
has primary (inherited) disease.
Key Points
- Hemochromatosis is a disease in which too much
iron builds up in your body (iron overload).
- If the disease isn't detected and treated early,
it can lead to serious problems, including liver disease, heart disease,
diabetes, arthritis, impotence, abnormal menstrual cycles,
pituitary and thyroid problems, and changes in skin color. If hemochromatosis
isn't treated, it may even cause death.
- There are two types of hemochromatosis: primary
and secondary. A defect in the genes that control how much iron you absorb from
food causes primary hemochromatosis.
- Most people who have primary hemochromatosis
inherit it from their parents. If you inherit two hemochromatosis
genesone from each parentyou're at risk for iron overload and signs
and symptoms of the disease.
- Secondary hemochromatosis usually is the result
of another disease or condition that causes iron overload, such as certain
types of
anemia.
- Hemochromatosis is one of the most common genetic
disorders in the United States. About 1 million people in the United States
have it. The disease is most common in Caucasians of Northern European descent.
It's also more common in men and older people.
- Hemochromatosis can affect many parts of the body
and cause a number of signs and symptoms. The signs and symptoms of the disease
don't usually appear until at least age 40 in men and age 50 in women. Common
signs and symptoms include joint pain, fatigue (tiredness), general weakness,
weight loss, and abdominal pain.
- Your doctor will diagnose hemochromatosis based
on your medical and family histories, a physical exam, and the results from
tests and procedures.
- Treatments for hemochromatosis include
therapeutic phlebotomy, iron chelation therapy, dietary changes, and treatment
for complications.
- Your doctor may recommend frequent therapeutic
phlebotomy at first to get the amount of iron in your body back to normal.
After your iron levels return to normal, you may continue phlebotomy
treatments, but get them less often.
- You can't prevent inherited hemochromatosis.
However, not everyone who inherits hemochromatosis genes develops symptoms or
complications of the disease. If you do develop symptoms or complications,
treatments can keep the disease from getting worse.
- Family members (blood relatives) of people who
have hemochromatosis should consider having a doctor check their iron levels.
- The outlook for people who have hemochromatosis
largely depends on how much organ damage has already occurred at the time of
diagnosis. Early diagnosis and treatment are important. Treatment may help
prevent, delay, or reverse complications. With early diagnosis and treatment, a
normal lifespan is possible.
Links to Other Information About
Hemochromatosis
NHLBI Resources
Non-NHLBI Resources
Clinical Trials
|