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Although diabetes, impotence, and
may seem unrelated, they can all be consequences of
a common inherited disorder called hemochromatosis,
an iron overload disease. Few people have even heard
of hemochromatosis, even though it is estimated to affect
1.5 million Americans, and probably accounts for 15
percent of the cases of adult onset diabetes.
Is Hereditary Hemochromatosis?
bodies require a small amount of iron every day,
but large amounts of iron can damage our organs
is a disorder that causes the body to absorb excess
iron from food. Since there is no way for the body to
get rid of iron (other than bleeding or shedding of
skin and intestinal cells), people with hemochromatosis
have to store the excess iron in cells of the liver,
heart, pancreas, and other organs.
bodies require a small amount of iron every day, but
large amounts of iron can damage our organs. If untreated,
or not diagnosed early enough, hemochromatosis can lead
of the liver, liver failure, or (rarely) liver cancer
or decreased sex drive in men; early menopause in
individuals with advanced hemochromatosis also have
color changes in their skin. This was one of the first
clinical features recognized with this disorder, and
is the origin of the name hemochromatosis.
Discovery and Naming of Hemochromatosis
100 years ago, doctors described a disorder in which
individuals suffered from liver damage and diabetes.
The skin of these patients often turned a bronze
color, attributed to iron in the blood. For this
reason, the disorder was named hemochromatosis,
from the Greek heme meaning "of the blood" and from
chroma meaning color.
most common cause of hemochromatosis is genetics
hereditary hemochromatosis, in which the disease
runs in families, is the most common inherited
disorder. In fact, approximately 1 in 200 people in
the United States is thought to have a mutation
necessary for iron overload, but a far smaller number
of people develop fully symptomatic hemochromatosis.
Others who carry a mutation, but do not have symptoms
of hemochromatosis, may be at increased risk for other
disorders, such as cardiovascular problems.
Are the Symptoms of Hereditary Hemochromatosis?
over 30 different symptoms associated with hemochromatosis,
the disease can be extremely difficult to diagnose.
Many of the early symptoms of hemochromatosis are nonspecific,
including weakness and fatigue, loss of sex drive, and
general muscle aches that can also be caused by a number
of medical problems unrelated to hemochromatosis. Symptoms
may begin anywhere from age 30 to age 60, although in
some rare cases they occur as early as 20.
Symptoms of Hereditary Hemochromatosis
of sex drive
of monthly menstrual cycles
pain in the fingers
of breath on exertion
skin pigmentation (a bronze color)
of body hair
a physical examination, a doctor might note an enlarged
liver (hepatomegaly) and increased skin pigmentation
indicating that the patient is in the early stages of
the disease. If the disease is diagnosed at this stage,
treatment can begin that will reduce the chances of
getting other, more serious complications.
on Treatment and Prevention (Coming Soon)
hemochromatosis remains undiagnosed and untreated, iron
will continue to build up in the organs. Other, more
serious health problems including diabetes mellitus
(due to iron in the pancreas), cardiomyopathy (a stiff
heart that doesn't function efficiently due to iron
buildup in the heart), liver dysfunction, and cirrhosis
of the liver can develop. Cirrhosis of the liver can
lead to liver cancer, which occurs in about 30 percent
of male subjects who have cirrhosis due to hemochromatosis.
Unfortunately, if hemochromatosis is diagnosed at this
late stage, it doesn't respond to treatment as well
because organs have already been damaged. However, if
the diagnosis is made before cirrhosis develops, life
expectancy is normal, and, with treatment, almost all
other complications of iron overload can be reversed
or stopped from progressing.
is essential for the body to conduct many necessary
functions. In disorders like anemia for example, people
don't have enough iron and need to take iron supplements.
But too much iron can also be harmful. Excess iron is
toxic, causing organ damage.
uncommon, it is possible to be anemic and still
we get 10 to 20 milligrams of iron a day in our diet.
However, of that amount the body typically only absorbs
1 to 2 milligrams. The rest of the iron is not absorbed,
and some is lost in any skin cells that are shed. Individuals
with hereditary hemochromatosis absorb 3 to 4 milligrams
of iron through the intestine
(about twice the normal amount), and the body does not
have any way to get rid of it. Over decades, this iron
accumulates in organs including the heart, liver, and
pancreas. Iron accumulation results in organ damage
and other conditions like diabetes and abnormal heart
rhythms that are signs that the organs are sick.
iron accumulation in the organs begins
in childhood, but the symptoms of this disorder
do not usually appear
takes a long time for organs to sustain enough damage
due to excess iron before they begin to malfunction.
Excess iron accumulation in the organs begins in childhood,
but the symptoms of this disorder do not usually appear
until adulthood. Symptoms of hemochromatosis begin to
occur when the body has stored 20 grams or more of iron,
which can take 4 to 6 decades.
Will Symptoms of Hemochromatosis Appear?
factors effect when symptoms of hemochromatosis may
Because alcohol is an independent toxin to the liver,
liver disease may be present earlier due to the combined
effects of alcohol and iron.
People who take vitamin supplements that contain iron,
or take vitamin C, which increases the body's effectiveness
at absorbing iron, may have symptoms at a younger-than-average
Men are twice as likely to go to their doctor with
symptoms of hereditary hemochromatosis than women.
In untreated men, symptoms usually begin between age
40 and 60. For women, the symptoms usually start later,
between age 50 and 65. One reason is that women have
regular episodes of blood loss through menstruation
loss. Individuals who lose iron through blood
donation may also delay the onset of symptoms.
type. There are two common mutations in a gene
called HFE, which is known to cause hereditary hemochromatosis.
One of these two mutations, H63D, is associated with
a less severe and later onset form of hemochromatosis.
People who have one or two copies of this mutation
have a milder form of the disease compared to people
who have two copies of the other common mutation (called
good news is that the earlier hemochromatosis is diagnosed,
the easier the treatment process is, and the less likely
that organ damage will have occurred. If someone has
a predisposition towards abnormal iron storage, regular
loss of iron (through blood draws), avoiding iron supplements,
and high doses of vitamin C can prevent buildup of excess
iron and the damage it causes. The treatment for a person
with hemochromatosis includes getting iron levels back
to normal, as well as specific treatment for any organ
hemochromatosis is common, the disease is often underdiagnosed.
This may be in part because symptoms occur in mid-adult
life, mimicking many other adult onset disorders such
as diabetes and heart disease. Another reason may be
that the textbook symptoms that doctors learn (liver
disease, diabetes, and bronzed skin) may not be the
first symptoms that appear in people with hemochromatosis.
recent news about how hemochromotosis is underdiagnosed,
see Related News below.
Is Hemochromatosis Diagnosed
this disorder is easily detected through tests for blood
iron levels and by looking for mutations in the hemochromatosis
gene (HFE), more doctors are diagnosing individuals
with the disease before they have symptoms. Before moving
on to genetic testing or liver biopsy, doctors usually
perform screening tests.
Tests for Hemochromatosis
the Test Measures
saturation (related to the total iron binding capacity,
percentage of iron transport proteins in the blood
currently carrying iron atoms.
amount of the long-term storage protein for iron.
(An indirect measure of the amount of iron stored
in your liver.)
transferrin saturation test determines how much iron
is held by the protein that carries iron in the blood.
A fasting transferrin saturation of 60 percent or higher
in men, or 50 percent or higher in women, on at least
two occasions, is considered a sign of iron overload.
However, factors in addition to hemochromatosis can
cause iron overload. Values of greater than 45 percent
are considered suggestive of hemochromatosis and deserve
Ferritin Level Test
serum ferritin test acts as an indirect measure of iron
storage in the liver. Serum ferritin levels are considered
in the normal range for males and postmenopausal females
if they are between 20 and 300 ug/L, or between 20 and
200ug/L for premenopausal females. People with advanced
hemochromatosis may have serum ferritin levels as high
as 15,000 ug/L. However, other factors besides hemochromatosis
can cause high serum ferritin levels, including liver
disease, infection, cancer, heart disease, AIDS, metabolic
disorders, and inflammatory conditions such as arthritis.
individuals have elevated serum ferritin levels, or
fasting transferrin saturation levels, genetic
testing for hemochromatosis may
help to identify the reason for the increase in iron
often perform a liver biopsy in people who have high
serum ferritin levels (e.g., over 1000ug/L) in order
to determine the extent of liver damage and to distinguish
between hemochromatosis and other liver diseases. A
liver biopsy can also provide a clearer picture of the
amount of iron that is being stored in the liver, which
is known as hepatic iron concentration.
the availability of genetic testing for hemochromatosis,
a liver biopsy with measurements of hepatic iron was
considered the "gold standard" for diagnosing
hemochromatosis. A liver biopsy is now rarely needed
to make the diagnosis, and is usually only used in cases
of apparent iron overload with a negative genetic test
result and no other family history of hemochromatosis.
a liver biopsy is the only test that can tell whether
cirrhosis is present, which is the only complication
that affects the lifespan of someone with hemochromatosis,
since it increases the risk for liver cancer. A liver
biopsy should be recommended for anyone with hemochromatosis
who is also:
40 years old
a ferritin level over 1000 ug/L, or
abnormal liver function test results.
of those three conditions the likelihood of cirrhosis
is so low it does not usually justify the risk of the
of HLA antigens was also once used to help make
the diagnosis. This was because the gene for hemochromatosis
was very close to the highly polymorphic HLA genes
on chromosome six, and certain HLA gene alleles
were often found in patients with hemochromatosis.
This test had many false positive and false negative
results, and is now obsolete (although still offered
by some laboratories).
the Symptoms of Hemochromatosis
other genetic disorders, symptoms of hemochromatosis
are preventable if treatment is started early. Prevention
includes removing iron through weekly phlebotomy (blood
removal) treatments until iron levels reach normal;
preventing further accumulation through blood removal
three to four times a year, and avoiding supplemental
iron and high doses of vitamin C.
Is Iron Overload Not Hereditary Hemochromatosis?
the most common reason for abnormal iron storage in
the body is hereditary hemochromatosis, there are other
medical reasons for excess iron accumulation:
The body can only release a certain amount of excess
iron a day. If individuals take excessive amounts
of iron through vitamins, medicine, or a diet rich
in red meat, they may have temporary hemochromatosis.
liver disease. Individuals with liver disease
due to alcoholism, hepatitis C or other disorders
may have higher than usual amounts of iron stored
in the liver or other organs. This is termed hemosiderosis,
and the appearance of the liver on biopsy is different
rare hereditary conditions. Other hereditary conditions
can cause a build-up of excess iron. These include
thalassemia and other anemias requiring multiple transfusions;
juvenile onset hereditary hemochromatosis and porphyria
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