July 2009 is National Hemochromatosis Awareness Month Please scroll down for the whole story.
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July 2009 is National Hemochromatosis Awareness Month
Hemochromatosis
(HHC) is a leading cause of iron overload disease. People with HHC absorb extra
amounts of iron from the daily diet. The human body cannot rid itself of extra
iron. Over time, these excesses build up in major organs such as the heart, liver,
pancreas, joints and pituitary. If the extra iron is not removed, these organs
can become diseased. Untreated hemochromatosis can be fatal.
Iron is an essential nutrient found in many foods. Iron carries oxygen (in
hemoglobin) to all parts of the body. Normally, humans absorb about 8-10% of
the iron in foods that they eat. People with HHC can absorb four times that
amount. Individuals with hemochromatosis absorb too much iron from the diet.
Iron cannot be excreted therefore the metal can reach toxic levels in tissues
of major organs such as the liver, heart, pituitary, thyroid, pancreas, and
synovium (joints). These overburdened organs cease to function properly and
eventually become diseased.
Therefore, undiagnosed and untreated HHC increases the risk for diseases and
conditions such as diabetes mellitus, irregular heart beat or heart attack,
arthritis (osteoarthritis, osteoporosis), cirrhosis of the liver or liver
cancer, depression, impotence, infertility, hypothyroidism, hypogonadism, and
some cancers. Mismanaged iron in the brain is seen in those patients with
neurodegenerative diseases: Alzheimer's, early onset Parkinson's, epilepsy,
multiple sclerosis, and Huntington's disease.
SIGNS & SYMPTOMS… Chronic fatigue
and joint pain are the most common complaint of people with hemochromatosis.
Other common symptoms include, lack of energy, abdominal pain, loss of sex
drive, and heart flutters or irregular heart beat. Symptoms usually begin in
men in their late 20’s to early 30’s. In women, symptoms usually start about
10-15 years after they stop having a period. If hemochromatosis is not found
early and treated, iron may accumulate in body tissues causing disease such as:
-
arthritis (osteoarthrithis, osteoporosis) knuckles, ankles and hips
- liver disease, including an enlarged liver, cirrhosis, cancer, and liver
failure diabetes
- heart problems ( irregular heartbeat, heart attack or heart failure)
- impotence
- infertility
- loss of period or early menopause
- abnormal skin color, ashen gray-green or reddish-bronze
- hypothyroidism (which can cause depression)
Hemochromatosis
can be overlooked by a doctor who is concentrating on treatment of diseases
that are present in the patient. Many doctors still believe what they learned
in medical school, that hemochromatosis is rare and only happens in older men.
When hemochromatosis is discovered early and treated before organ damage can
occur, a person can live a normal, healthy life.
GENETICS… Genetic tests
can confirm a diagnosis and can help identify family members who are at risk
for hemochromatosis.
Type I hemochromatosis, which occurs in adults, is caused by defects in the HFE
gene. HFE has many purposes, but one important role is that it helps to control
the amount of iron that is absorbed from food. There are several known defects
in the HFE gene, but two defects are most often found in people with
hemochromatosis. These two defects are called C282Y and H63D.
Everyone has two copies of HFE, one from Mom and one from Dad. A person can
have two normal copies, one normal and one changed (mutated or mutation) copy;
two copies of the same mutation; or two different mutated copies.
When a person has one mutated copy, he or she is called a carrier or
heterozygote. When a person has two of the same mutated copies, he or she is
called a homozygote. When a person has two different, but mutated, copies, he
or she is called a compound heterozygote. Genetics can be very difficult to
understand at first. What is most important is that you know which gene combination
causes the greatest known risk of loading iron.
DIAGNOSIS… A person can ask
his or her doctor to check body iron levels with the following tests: Serum iron -- (SI)
This test is best conducted after fasting for at least three hours. Also, iron
or vitamin C supplements should be discontinued at least three days before
taking the test. Do not discontinue other medication unless your doctor tells
you to. Total
iron binding capacity (TIBC) -- This test tells how well the body
binds iron. Serum iron divided by TIBC x 100% gives you important information
about the transferrin-iron
saturation percentage (TS%).
TS% is usually 25-35%; in some people with iron overload, the TS% is very
high. There are other types of iron overload where the TS% is normal. Serum ferritin (SF)
-- This measures the amount of iron stored in the body.
Normal levels of serum ferritin are different for men, women and children. If a
person has high body iron, the TS% is elevated and the serum ferritin is
elevated. There are exceptions to these test results; see other types of
hemochromatosis.
In the
past, liver biopsy was widely used to diagnose hemochromatosis. Today, liver
biopsy is not necessary to diagnose the inherited form of HHC. DNA tests are
available to determine if a person has genetic hemochromatosis.
TREATMENT… It is very
important to get iron levels down to normal. Therapeutic blood removal or
phlebotomy is used to accomplish this. Therapeutic phlebotomy (TP) is the same
as regular blood donation but TP requires a doctor’s order (prescription).
Regular blood donation can be done every 8 weeks. A person with severe iron
overload may need to give blood as much as 8 times in a single month! The goal
is to bring blood ferritin levels to a normal range of 25 to 75ng/ml. Depending
on the amount of iron overload at diagnosis, reaching normal levels can take
many phlebotomies. Serum ferritin drops about 30ng/mL with each full unit
(500cc) of blood removed. Once iron levels reach normal, a person can begin
maintenance therapy, which involves giving a pint of blood every 2 to 4 months
for life. Some people may need to give blood more often depending on what they
eat and how quickly their body absorbs iron. The TS% and serum ferritin tests
can be done periodically to help determine how often blood should be removed.
When
hemochromatosis is diagnosed early and treated before organs are damaged a
person can live a normal life expectancy. For people who have disease at the
time of diagnosis, life expectancy may be shortened depending upon the disease.
For example: if a person gets diagnosed and treated before serum ferritin is
above 1,000ng/ml the risk of cirrhosis or liver cancer is less than 1%.
DIET… Red meat
contains the most easily absorbable form of iron. People with hemochromatosis
should limit the amount of red meat they eat. They should also limit the amount
of alcohol they drink and how much supplemental vitamin C they take. Alcohol
and vitamin C can increase the absorption of iron. Supplemental vitamin C
should be limited to 200 milligrams. Many fresh fruits and vegetables contain
vitamin C. These foods should not be eliminated from the diet because they also
contain antioxidants, fiber and other important nutrients.